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Liu L, Sun J, Liu S, Zhang C, Li J. Malignant transformation of craniofacial fibrous dysplasia: A clinicopathological, immunohistochemical and molecular analysis of 15 cases in one single institution. JOURNAL OF STOMATOLOGY, ORAL AND MAXILLOFACIAL SURGERY 2025; 126:102098. [PMID: 39357811 DOI: 10.1016/j.jormas.2024.102098] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/19/2024] [Accepted: 09/29/2024] [Indexed: 10/04/2024]
Abstract
OBJECTIVE Malignant transformation of craniofacial fibrous dysplasia (FD) is not common and its clinicopathological as well as molecular characteristics remain largely unknown with limited literature reports. STUDY DESIGN Patients diagnosed with FD including McCune-Albright syndrome (MAS), polyostotic fibrous dysplasia (PFD), and monostotic fibrous dysplasia (MFD), accompanied by malignant transformation at our institution over the past 18 years (2005-2023) were retrospectively screened and analyzed to investigate the epidemiology and clinicopathological features of these tumors. RESULTS Three hundred and five patients were diagnosed as FD in our hospital from 2005 to 2023, with 176 females (57.7 %) and 129 males (42.3 %). The average age at diagnosis was 28.35 years, ranging from 7 to 70 years. A total number of 15 (4. 9 %) cases of FD with malignant transformation were selected. Among these 15 patients, the age of the initial diagnosis of FD ranged from 6 to 54 years (mean age 28.87 ± 16.77), and the ages when malignant transformation occurred ranged from 18 to 57 years (mean age 38.53 ± 13.05). Among 15 patients, 12 patients were female (80 %) and 3 were male (20 %). Fifteen cases included MSA in 2 patients, PFD in 4 patients, and MFD in 9 patients. Of the anatomical sites in craniofacial bones, the most common site of the lesion was the maxilla, followed by the mandible. Malignant neoplasm arising in FD were osteosarcoma (12/15), chondrosarcoma (1/15) and high-grade sarcoma of uncertain differentiation (2/15). The 3- and 5-year overall survival rate was 33.3 % (5/15) and 20 % (3/15) respectively. In secondary osteosarcoma from FD, MDM2 and CDK4 positivity were 33.3 % and 41.7 % respectively, and only one case was MDM2-amplified and CDK4-amplified. CONCLUSION Malignant transformation in fibrous dysplasia was an exceedingly rare event and with a female predominance. The overall survival rate was poor. Osteosarcoma was the most common malignant neoplasm arising in FD. MDM2 and CDK4 expression may aid in the diagnosis of secondary osteosarcoma in FD.
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Affiliation(s)
- Limin Liu
- Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China
| | - Jingjing Sun
- Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China
| | - Shengwen Liu
- Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China
| | - Chunye Zhang
- Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China
| | - Jiang Li
- Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China.
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Liu MH, Zhu HX, Fu L, Xie LL. Treatment approach with clinical follow-up in monostotic fibrous dysplasia: a case series. J Med Case Rep 2025; 19:223. [PMID: 40361161 PMCID: PMC12070764 DOI: 10.1186/s13256-025-05261-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2024] [Accepted: 04/10/2025] [Indexed: 05/15/2025] Open
Abstract
BACKGROUND Long bones are one of the most common sites involved in fibrous dysplasia. In some cases, there is no deformity, but patients suffer sustained or intermittent dull pain. CASE PRESENTATION Since 2021, a retrospective case series of seven East Asian patients with fibrous dysplasia of a long bone without severe deformity were reviewed. These patients include three male and four female patients, with an average age of 32.7 years (range 4-70 years). Fibrous dysplasia was diagnosed at a total of three different sites in these seven cases including five femurs (71.4%), one humerus (14.3%), and one fibular bone (14.3%). All patients received treatment with allogenic bone grafting or cortical strut grafting with or without compression locking and screw fixation. The radiological and clinicopathologic presentation was analyzed by the surgeon. There were no cases with polyostotic forms or fibrous dysplasia in combination with extraskeletal disease. The presenting complaint was pain in all cases and localized swelling in 1 (14.3%) of the cases. CONCLUSIONS Autogenous fibular cortical strut grafting and compression hip screw fixation achieved good postoperative function and provided an early return to work for adult patients with fibrous dysplasia of the femoral neck with mild but prolonged symptoms. However, total hip replacement may be a suitable method for fibrous dysplasia of the femoral neck accompanied by pathological fracture.
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Affiliation(s)
- Man-Hua Liu
- Department of Joint and Hand Orthopedics, Hunan University of Medicine General Hospital, No. 144 Jinxi South Road, Huaihua, 418000, Hunan Province, China
| | - Hong-Xia Zhu
- Department of Traumatic Orthopedics, Hunan University of Medicine General Hospital, Huaihua, 418000, Hunan Province, China
| | - Lei Fu
- Department of Joint and Hand Orthopedics, Hunan University of Medicine General Hospital, No. 144 Jinxi South Road, Huaihua, 418000, Hunan Province, China
| | - Lun-Li Xie
- Department of Joint and Hand Orthopedics, Hunan University of Medicine General Hospital, No. 144 Jinxi South Road, Huaihua, 418000, Hunan Province, China.
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Bergignat S, Chapurlat R, Nicolino M, Perge K. Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center. Front Endocrinol (Lausanne) 2025; 16:1531765. [PMID: 40078582 PMCID: PMC11896858 DOI: 10.3389/fendo.2025.1531765] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/21/2024] [Accepted: 02/03/2025] [Indexed: 03/14/2025] Open
Abstract
Introduction McCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene that lead to constitutive activation of the G protein alpha subunit (Gsα). Pathologic consequences can involve several tissues. Fibrous dysplasia (FD), café-au-lait skin macules and hyperfunctioning endocrinopathies are classic manifestations. However, the phenotypic spectrum of MAS is considerably wider and more complex. Methods We performed a pediatric retrospective study from our National Referral Center between 2007 and 2021 to describe the clinical spectrum of MAS in children, with a focus on unusual or severe manifestations. Results and discussion A total of 33 children were included. Peripheral precocious puberty was the most frequent endocrinopathy, affecting 84,6% of girls and was the presenting feature for 57,6% of them. Thyroid involvement was also common, consisting in morphological abnormalities with or without slight hyperthyroidism. Thyroid nodules were typically benign, but one patient presented a follicular thyroid carcinoma. Cushing syndrome typically occurs in the neonatal period, but we observed an unusual case of hypercortisolism revealed in early infancy. FD was very common and manifested along a wide range of severity, from monostotic and asymptomatic lesion to polyostotic FD with pain, fractures, and compressive optic neuropathy. We described a locally aggressive FD involving sphenoid and maxillary bones which leaded a young female patient to death. Finally, we reported hepatic disorders, including a case of hepatocellular adenoma. In conclusion, MAS is a multisystemic disorder, with a variable combination of symptoms, and a broad range of severity. These uncommon abnormalities mostly occurred in patients with significant involvement of multiple other tissues.
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Affiliation(s)
- Solène Bergignat
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, France
| | - Roland Chapurlat
- Faculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, France
- Hospices Civils de Lyon, Hôpital Edouard-Herriot, Service de rhumatologie, Lyon, France
- Centre National de Référence de la Dysplasie Fibreuse des Os, Hôpital E Herriot, Lyon, France
| | - Marc Nicolino
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, France
- Faculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, France
| | - Kevin Perge
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, France
- Faculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, France
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Perge K, Cabet S, Bergignat S, Gensburger D, Chapurlat R, Nicolino M. Fatal giant craniofacial fibrous dysplasia in a very young child. JOURNAL OF STOMATOLOGY, ORAL AND MAXILLOFACIAL SURGERY 2025; 126:101996. [PMID: 39084555 DOI: 10.1016/j.jormas.2024.101996] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/01/2024] [Revised: 07/17/2024] [Accepted: 07/28/2024] [Indexed: 08/02/2024]
Affiliation(s)
- Kevin Perge
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique et Pédiatrie Générale, 59 Boulevard Pinel, 69500 Bron, France; Université Claude Bernard, Lyon 1, Lyon, France; Centre national de référence de la dysplasie fibreuse des os, Hôpital E Herriot, 69437 Lyon, France.
| | - Sara Cabet
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Imagerie Médicale, 59 Boulevard Pinel, 69500 Bron, France; Université Claude Bernard, Lyon 1, Lyon, France
| | - Solene Bergignat
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique et Pédiatrie Générale, 59 Boulevard Pinel, 69500 Bron, France
| | - Deborah Gensburger
- eospices Civils de Lyon, Hôpital Edouard-Herriot, Service de rhumatologie, 5 place d'Arsonval, 69003 Lyon, France; Centre national de référence de la dysplasie fibreuse des os, Hôpital E Herriot, 69437 Lyon, France
| | - Roland Chapurlat
- eospices Civils de Lyon, Hôpital Edouard-Herriot, Service de rhumatologie, 5 place d'Arsonval, 69003 Lyon, France; Université Claude Bernard, Lyon 1, Lyon, France; Centre national de référence de la dysplasie fibreuse des os, Hôpital E Herriot, 69437 Lyon, France
| | - Marc Nicolino
- Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique et Pédiatrie Générale, 59 Boulevard Pinel, 69500 Bron, France; Université Claude Bernard, Lyon 1, Lyon, France; Centre national de référence de la dysplasie fibreuse des os, Hôpital E Herriot, 69437 Lyon, France
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Paris E, De Marco G, Vazquez O, Steiger C, Boudabbous S, Dayer R, Ceroni D. A narrative review of the literature on the pediatric orthopedic management of fibrous dysplasia. Front Pediatr 2025; 12:1502262. [PMID: 39981406 PMCID: PMC11841395 DOI: 10.3389/fped.2024.1502262] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/26/2024] [Accepted: 12/31/2024] [Indexed: 02/22/2025] Open
Abstract
Fibrous dysplasia is a congenital, non-inherited, benign intramedullary bone lesion in which the normal bone marrow is replaced by abnormal fibro-osseous tissue. The disorder can be monostotic (involving a single bone) or polyostotic (involving multiple bones). As the abnormal fibro-osseous tissue compromises the mechanical strength of bone, it can result in pain, deformity, fractures, or abnormalities in bone mechanics with inappropriate bone alignment. This narrative review attempts to summarize more than 20 years of observations of patients with FD to help pediatric orthopedists establish a care framework that can improve its identification, understand the impact that endocrinopathies can have on its clinical presentation, and optimize the management of bone disorders. Our focus is specifically on orthopedic manifestations of FD and modern management alternatives. The past 20 years have provided major advances in understanding of fibrous dysplasia (FD), and it is clear that the pediatric orthopedist's role remains highly relevant in the management of all types of FD. Surgical treatment remains appropriate when pain is unresponsive to other medical treatments, when a pathological fracture is impending or has happened, when a deformity is worsening or has formed, or when there is a suspicion of malignant transformation. The pediatric orthopedist must be aware, therefore, of the particularities of the different bones on which they may be called to intervene, and they should give very careful consideration to their operative strategy, which must be adjusted to the biological and static characteristics of the bone.
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Affiliation(s)
- Elio Paris
- Faculty of Medicine, University of Geneva, Geneva, Switzerland
| | - Giacomo De Marco
- Pediatric Orthopedic Unit, Pediatric Surgery Service, Geneva University Hospitals, Geneva, Switzerland
| | - Oscar Vazquez
- Pediatric Orthopedic Unit, Pediatric Surgery Service, Geneva University Hospitals, Geneva, Switzerland
| | - Christina Steiger
- Pediatric Orthopedic Unit, Pediatric Surgery Service, Geneva University Hospitals, Geneva, Switzerland
| | - Sana Boudabbous
- Radiology Department, Geneva University Hospitals, Geneva, Switzerland
| | - Romain Dayer
- Pediatric Orthopedic Unit, Pediatric Surgery Service, Geneva University Hospitals, Geneva, Switzerland
| | - Dimitri Ceroni
- Pediatric Orthopedic Unit, Pediatric Surgery Service, Geneva University Hospitals, Geneva, Switzerland
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Shah N, Drubach LA, Berry C, Mannstadt M, Peacock ZS, Upadhyay J. Dissecting the heterogeneity of craniofacial lesions in patients with fibrous dysplasia/McCune-Albright Syndrome. Int J Oral Maxillofac Surg 2024; 53:1006-1014. [PMID: 39127571 DOI: 10.1016/j.ijom.2024.08.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2024] [Revised: 07/30/2024] [Accepted: 08/02/2024] [Indexed: 08/12/2024]
Abstract
Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) frequently involves the craniofacial skeleton. Craniofacial fibrous dysplasia lesions exhibit diverse imaging characteristics on multimodality evaluation, utilizing radiographs, computed tomography (CT), magnetic resonance imaging (MRI), and 18F-sodium fluoride positron emission tomography (18F-NaF PET). A multimodal imaging classification of craniofacial fibrous dysplasia lesions may offer clinical insights into the types of lesions that are (1) prone to progression, (2) amenable to intervention (i.e., pharmacological or surgical), or (3) associated with symptoms such as pain. In this prospective, preliminary single site study of 15 patients with FD/MAS, the heterogeneity of craniofacial lesions (N = 35) was assessed using a combination of 18F-NaF PET, MRI, and CT. A k-means clustering algorithm was used to categorize lesions based on imaging characteristics. Clustering analysis revealed three types of lesion based on the magnitude of the regional 18F-NaF standardized uptake values (SUV), signal intensities on T1-weighted and fluid-sensitive sequences, and appearance on CT (lucent, sclerotic, and/or ground glass). This preliminary study provides a foundation for future longitudinal natural history or treatment studies, where the prognostic value of baseline craniofacial fibrous dysplasia imaging characteristics and clinical symptomatology can be further evaluated.
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Affiliation(s)
- N Shah
- Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
| | - L A Drubach
- Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
| | - C Berry
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
| | - M Mannstadt
- Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
| | - Z S Peacock
- Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA
| | - J Upadhyay
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA.
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Bauerle L, Hawkins E, Baker T, Harper JL, Kejner AE, Wessell J, Vandergrift WA, Strickland BA. Malignant sarcomatous transformation of calvarial fibrous dysplasia: illustrative case. JOURNAL OF NEUROSURGERY. CASE LESSONS 2024; 8:CASE24537. [PMID: 39527784 PMCID: PMC11558684 DOI: 10.3171/case24537] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/16/2024] [Accepted: 09/12/2024] [Indexed: 11/16/2024]
Abstract
BACKGROUND Fibrous dysplasia (FD) is a nonheritable genetic disorder characterized by abnormal osteogenesis, resulting in benign bone lesions in one or multiple bones. Despite their predominantly benign nature, these lesions can transform into malignant neoplasms, resulting in pain, swelling, disfigurement, and even death. The authors report a case of malignant sarcomatous transformation in an adult patient with a history of craniofacial FD. OBSERVATIONS A 61-year-old male with a history of systemic FD presented with a rapidly enlarging cranial mass that had recently started becoming painful to touch. Magnetic resonance imaging of the brain displayed extensive FD changes throughout the calvarium and a large dysplastic mass in the right parietal bone with extension into the underlying epidural space, resulting in severe mass effect. The patient subsequently underwent radical resection and complex soft tissue reconstruction. The pathology confirmed high-grade undifferentiated pleomorphic sarcoma, for which the patient subsequently underwent an adjuvant chemotherapy regimen. LESSONS Malignant sarcomatous transformation of craniofacial FD most often results in the formation of an osteosarcoma in the maxilla, with the temporal and sphenoid bones also being common sites of such transformations. Although treatment begins with radical resection, the efficacy of adjuvant chemotherapy and radiation remains controversial. https://thejns.org/doi/10.3171/CASE24537.
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Affiliation(s)
- Luke Bauerle
- College of Medicine, Medical University of South Carolina, Charleston, South Carolina
| | - Emma Hawkins
- Department of Pathology & Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina
| | - Tiffany Baker
- Department of Pathology & Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina
| | - Jennifer L. Harper
- Department of Radiation Oncology, Medical University of South Carolina, Charleston, South Carolina
| | - Alexandra E. Kejner
- Department of Otolaryngology, Medical University of South Carolina, Charleston, South Carolina
| | - Jeffrey Wessell
- Department of Neurosurgery, Medical University of South Carolina, Charleston, South Carolina
| | - William A. Vandergrift
- Department of Neurosurgery, Medical University of South Carolina, Charleston, South Carolina
| | - Ben A. Strickland
- Department of Neurosurgery, Medical University of South Carolina, Charleston, South Carolina
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Cantor EA, Segovia JM, Osorio S, Murillo Silva JA, Vargas HA, Pino LE, Triana IC, Sáenz AC, Echeverri PA, Bejarano AF. Undifferentiated sarcoma arising from fibrous dysplasia in a young adult. ORTHOPADIE (HEIDELBERG, GERMANY) 2024; 53:703-708. [PMID: 39198269 DOI: 10.1007/s00132-024-04525-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 06/02/2024] [Indexed: 09/01/2024]
Abstract
Fibrous dysplasia (FD) is a skeletal disorder characterized by the replacement of normal bone by fibrous tissue. Malignant transformation of FD is extremely rare and has been reported in both monostotic and polyostotic forms of FD. The most frequently reported malignant transformation is osteosarcoma. Among malignant bone tumors, spindle cell sarcomas are uncommon and difficult to diagnose. This report presents the case of a 30-year-old woman with an unusual presentation of a malignant undifferentiated spindle cell neoplasm secondary to fibrous dysplasia. The clinical features, radiological findings and management are discussed.
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Affiliation(s)
- Erick Andrés Cantor
- Department of Oncology, ICCAL. Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | - Javier Mauricio Segovia
- Department of Oncology, ICCAL. Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | - Sergio Osorio
- Department of Oncology, Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | | | - Henry Alexander Vargas
- Department of Oncology, ICCAL. Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | - Luis Eduardo Pino
- Department of Oncology, ICCAL. Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | - Iván Camilo Triana
- , Internal Medicine Department, Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
| | - Angelica Carolina Sáenz
- Faculty of Medicine, Universidad de los Andes, Fundación Santa Fe de Bogota, Bogotá, Colombia, Calle 119 No. 7-03
| | | | - Andres Felipe Bejarano
- Department of Oncology, Santa Fe Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03
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Zhu GG, Lu C, Petrovic I, Nafa K, Chen W, Syed A, Rana S, Klein MJ, Huang S, Wang L, Tap WD, Ghossein RA, Shah J, Hameed MR. DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing. Head Neck Pathol 2024; 18:48. [PMID: 38884816 PMCID: PMC11183031 DOI: 10.1007/s12105-024-01634-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/12/2024] [Accepted: 02/26/2024] [Indexed: 06/18/2024]
Abstract
BACKGROUND Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS. METHODS In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing. RESULT Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS. CONCLUSION High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.
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Affiliation(s)
- Gord Guo Zhu
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
- Department of Pathology, Cooper University Hospital, Cooper Medical School of Rowan University, Camden, NJ, 08103, USA
| | - Chuanyong Lu
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Ivana Petrovic
- Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Khedoudja Nafa
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Wen Chen
- Department of Pathology, Washington DC VA Medical Center, Washington, DC, 20310, USA
| | - Aijazuddin Syed
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Satshil Rana
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Michael J Klein
- Department of Pathology, Hospital for Special Surgery, New York, NY, 10021, USA
| | - Sinchun Huang
- Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Lu Wang
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
- Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38103, USA
| | - William D Tap
- Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Ronald A Ghossein
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Jatin Shah
- Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
| | - Meera R Hameed
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
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Wang X, Guan W, Zhang H, Bao L, Wang X. Fibrous dysplasia with aneurysmal bone cyst-like change occurring in pediatric orbit: case report and literature review. Oral Maxillofac Surg 2024; 28:999-1004. [PMID: 38378934 DOI: 10.1007/s10006-024-01217-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2023] [Accepted: 01/19/2024] [Indexed: 02/22/2024]
Abstract
PURPOSE We report a case of fibrous dysplasia (FD) with aneurysmal bone cyst (ABC)-like change in a child with orbital involvement, review the related cases, and discuss clinical features, therapy, and prognosis of this disease. CASE PRESENTATION A 10-year-old girl had right proptosis (degree of exophthalmos: OD 16 mm, OS 13 mm) and limited vision (visual acuity: OD 1.0, OS 0.8) without trauma. Preoperative CT showed a 5.0*4.3 cm right-sided crania-orbital communicating tumor. MRI indicated a well-defined multicystic mass with scattered fluid levels and soap bubble-like alterations. The child underwent total tumor resection and orbital parietal titanium mesh reconstruction. At 20 months of follow-up, the child has recovered from ocular problems, and the tumor has not recurred. CONCLUSION FD combined with ABC rarely occurs in orbit and generally begins with ocular symptoms. The etiology is uncertain. Early diagnosis and surgery are essential. Complete resection is suggested whenever possible because residual lesions may recur.
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Affiliation(s)
- Xinyao Wang
- Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
| | - Wenbin Guan
- Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
| | - Haibo Zhang
- Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
| | - Lei Bao
- Department of Imaging, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
| | - Xiaoqiang Wang
- Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
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Müller D, Aljinović Ratković N, Blivajs I, Franćeski D, Krstanac K, Seiwerth S. OSTEOSARCOMA IN A PATIENT WITH CRANIAL FIBROUS DYSPLASIA: A CASE REPORT. Acta Clin Croat 2024; 63:191-196. [PMID: 39959314 PMCID: PMC11827389 DOI: 10.20471/acc.2024.63.01.23] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2021] [Accepted: 08/10/2021] [Indexed: 02/18/2025] Open
Abstract
Fibrous dysplasia is a benign fibro-osseous lesion which rarely undergoes malignant transformation, frequently after radiotherapy. Osteosarcoma is the most common malignancy arising in fibrous dysplasia. We report a case of 67-year-old female patient with osteosarcoma developing in long lasting fibrous dysplasia without prior radiation. The patient underwent surgery with postoperative chemotherapy. She developed two relapses over the course of four years after the initial therapy. With this case, we want to underline the importance of noticing any significant change in the otherwise unremarkable course in patients with fibrous dysplasia.
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Affiliation(s)
- Danko Müller
- Department of Pathology, Dubrava University Hospital, Zagreb, Croatia
- Department of Pathology, School of Medicine, University of Zagreb, Zagreb, Croatia
| | | | - Igor Blivajs
- Department of Maxillofacial Surgery, Dubrava University Hospital, Zagreb, Croatia
| | - Dalibor Franćeski
- Department of Radiology, Dubrava University Hospital, Zagreb, Croatia
| | - Karolina Krstanac
- Department of Pathology, Dubrava University Hospital, Zagreb, Croatia
| | - Sven Seiwerth
- Department of Pathology, School of Medicine, University of Zagreb, Zagreb, Croatia
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12
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Lu JL, Ke M, Yuan XY, Zhang JS. Multimodal imaging diagnosis for bone fibrous dysplasia malignant transformation: A case report. Biomed Rep 2023; 19:73. [PMID: 37746591 PMCID: PMC10511946 DOI: 10.3892/br.2023.1655] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2023] [Accepted: 08/03/2023] [Indexed: 09/26/2023] Open
Abstract
Fibrous dysplasia of bone (FDB) is a rare benign condition in which fibrous tissue replaces normal bone architecture. FDB rarely undergoes malignant transformation, but there are reports of locally aggressive fibrous dysplasia with cortical destruction and soft tissue extension. Diagnosis of FDB malignant transformation is not easy, especially in monostotic form, because of the overlap in imaging features of locally aggressive fibrous dysplasia and fibrous dysplasia with malignant transformation. The present case study reports a rare case of FDB in a 23-year-old man with polyostotic fibrous dysplasia arising in the left side of the pelvis and lower limb bones with partial transformation to fibrosarcoma. This study explored the multimodal imaging features of FDB malignant transformation, to achieve early detection and improve diagnostic accuracy of local FDB aggressiveness and its malignant transformation.
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Affiliation(s)
- Jian-Lin Lu
- Department of Radiation Oncology and Nuclear Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
| | - Miao Ke
- Department of Radiation Oncology and Nuclear Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
| | - Xiao-Yan Yuan
- Department of Medical Ultrasonics, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
| | - Jin-Shan Zhang
- Department of Radiation Oncology and Nuclear Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
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13
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Gersey ZC, Zenonos GA, Gardner PA. Malignant Brain and Spinal Tumors Originating from Bone or Cartilage. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2023; 1405:477-506. [PMID: 37452950 DOI: 10.1007/978-3-031-23705-8_18] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 07/18/2023]
Abstract
Malignant bone tumors affecting the brain and spine are a rare and exceedingly difficult-to-treat group of diseases. Most commonly consisting of chordoma and chondrosarcoma, these tumors also include giant-cell tumors and osteosarcomas. This chapter will cover the background, epidemiology, genetics, molecular biology, histopathology, radiographic features, clinical manifestations, therapeutic approaches, and clinical management of each entity.
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Affiliation(s)
- Zachary C Gersey
- Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
| | - Georgios A Zenonos
- Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
| | - Paul A Gardner
- UPMC Center for Cranial Base Surgery, 200 Lothrop Street, PUH B-400, Pittsburgh, PA, 15213, USA.
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14
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Adeyemo AA, Ogunkeyede SA, Daniel A, Lasisi AO. Paediatric paranasal sinus fibrous dysplasia. Trop Doct 2023; 53:117-120. [PMID: 36112944 DOI: 10.1177/00494755221125080] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Fibrous dysplasia in the bony walls of a paranasal sinus is a developmental tumour that is associated with a marked facial deformity. Delay in hospital presentation contributes to the destructive resection techniques employed and the management outcome. Our study looks at the factors for delay in hospital presentation and the management outcome by a retrospective review between January 1997 and December 2018. Of 43 children (M: F 1:1.2) with a mean age of 12 ± 1.75 years, the maxillary bones were mostly affected. All underwent surgical resection with good management outcomes except for maxillectomy. Tumour recurrence was noted in five and there was no mitotic cell at histology. The clinical symptoms of fibrous dysplasia vary in severity and age of onset, often with late hospital presentation already with complications. Health education is needed to reverse this trend.
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Affiliation(s)
- A A Adeyemo
- Institute of Child Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.,Department of Otorhinolaryngology, University College Hospital, Ibadan, Nigeria
| | - S A Ogunkeyede
- Department of Otorhinolaryngology, University College Hospital, Ibadan, Nigeria.,Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria
| | - A Daniel
- Department of Otorhinolaryngology, University College Hospital, Ibadan, Nigeria.,Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria
| | - A O Lasisi
- Department of Otorhinolaryngology, University College Hospital, Ibadan, Nigeria.,Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria
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15
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Protsailo MD, Fedortsiv OY, Dzhyvak VG, Krycky IO, Hoshchynskyi PV, Horishnyi IM, Chornomydz IB, Rohalska YV, Synytska VO, Prodan AM, Nikitina IM. CLINICAL FEATURES OF CONNECTIVE TISSUE DYSPLASIA, OSGOOD-SCHLATTER DISEASE AND MULTIPLE CORTICAL DISORDERS IN A CHILD. WIADOMOSCI LEKARSKIE (WARSAW, POLAND : 1960) 2023; 76:1854-1860. [PMID: 37740981 DOI: 10.36740/wlek202308120] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/25/2023]
Abstract
OBJECTIVE The aim: To analyze scientific data on the problems of disorders of bone morphogenesis in children, in particular, non-ossifying fibroma. To analyze modern methods of diagnosis and treatment of this disease in the context of the latest scientific achievements. PATIENTS AND METHODS Materials and methods: The latest data of scientists from the world's leading clinics describing various forms of fibrous skeletal lesions in children of differ¬ent ages were analyzed. We examined a boy with fibrous lesions of the cortical layer of the knee joint bones and a girl with a large fibrous focus of the distal femoral metaphysis, which resulted in a closed pathological bone fracture. Surgical treatment, osteosynthesis, marginal resection of the tumor, bone grafting and histological examination were conducted. CONCLUSION Conclusions: Despite numerous studies of this disease, the etiopathogenesis of this disease has not been studied. There are no early symptoms of fibrous bone lesions in children. Diagnosis is possible only when a pathological fracture of the affected bone occurs due to extensive growth of fibrous tissue and a significant decrease in the mechanical strength of the bone. Most cases of recognition of such a disease occur accidentally when performing X-ray examinations for other reasons - bruises, sprains, arthralgias, osteochondropathy, infectious diseases, etc. It is known that boys are more mobile and require more frequent X-ray examinations for limb injuries than girls, so the likelihood of accidental detection of such changes increases significantly. Thus, long-term observations of children with fibrous bone lesions have shown that after 40 years, patients rarely developed malignant tumors - osteogenic sarcoma, fibrosarcoma, malignant fibroma of tubular bones, pelvic bones. There are no early symptoms of fibrous bone lesions in children. Recognition of such a disease occurs by chance when X-ray examinations are performed for other reasons.
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Affiliation(s)
| | - Olga Ye Fedortsiv
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
| | | | - Ihor O Krycky
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
| | | | - Ihor M Horishnyi
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
| | | | - Yana V Rohalska
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
| | - Vira O Synytska
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
| | - Andrii M Prodan
- I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY, TERNOPIL, UKRAINE
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16
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Leiomyosarcoma of the femur arising from an aneurysmal bone cyst treated seven years before: A case report and literature review. J Orthop Sci 2022; 27:1359-1362. [PMID: 32229164 DOI: 10.1016/j.jos.2020.03.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/25/2019] [Revised: 03/01/2020] [Accepted: 03/05/2020] [Indexed: 11/24/2022]
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Premalignant Conditions of Bone. JAAOS: GLOBAL RESEARCH AND REVIEWS 2022; 6:01979360-202210000-00004. [PMID: 36227850 PMCID: PMC9575816 DOI: 10.5435/jaaosglobal-d-22-00097] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/25/2022] [Accepted: 07/29/2022] [Indexed: 01/10/2023]
Abstract
Development of malignancy is a multifactorial process, and there are multitude of conditions of bone that may predispose patients to malignancy. Etiologies of malignancy include benign osseous conditions, genetic predisposition, and extrinsic conditions. New-onset pain or growth in a previously stable lesion is that should concern for malignant change and should prompt a diagnostic workup for malignancy.
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18
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Valadares LP, de Araújo Ferreira BS, da Cunha BM, Moreira LA, Batista FGA, da Fonseca Hottz C, Magalhães GGR. Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience. ARCHIVES OF ENDOCRINOLOGY AND METABOLISM 2022; 66:247-255. [PMID: 35420267 PMCID: PMC9832888 DOI: 10.20945/2359-3997000000459] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
Abstract
Objective Fibrous dysplasia (FD) is a rare bone disorder that can involve any part of the skeleton, leading to bone pain, deformities, and fractures. Treatment with intravenous bisphosphonates has been used with variable results. Therefore, we aimed to evaluate the effects of zoledronic acid (ZA) therapy in patients with monostotic or polyostotic FD. Methods The medical records of thirteen patients with FD evaluated between 2015 and 2020 were retrospectively analyzed. In the subgroup of patients treated with ZA (n = 7), data on pain relief, changes in bone turnover markers (BTMs), and adverse events following ZA infusions were retrieved. Moreover, radiological changes in response to treatment were recorded in patients who underwent radiological follow-up. Results Of the patients, 5 (38%) presented with monostotic whereas 8 (62%) had polyostotic FD. Bone pain was a common finding (69%), and most patients (62%) exhibited elevated baseline BTMs. Partial or complete pain relief was reported in 6 of 7 patients treated with ZA. BTMs, especially C-telopeptide of type I collagen (CTX), significantly decreased after therapy (change rate: -61.8% [IQR -71, -60%]), and median CTX levels were significantly lower than at baseline (0.296 ng/mL [0.216, 0.298] vs. 0.742 ng/mL [0.549, 0.907], respectively; P = 0.04). No radiological improvement was observed in cases with radiological follow-up (n = 3). No serious adverse effects of ZA were reported. Conclusion ZA treatment was well tolerated and provided beneficial effects in relieving bone pain and reducing BTMs, especially CTX. Our data reinforce the role of ZA in the treatment of FD-related bone pain.
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Affiliation(s)
- Luciana Pinto Valadares
- Ambulatório de Osteometabolismo, Rede SARAH de Hospitais de Reabilitação, Brasília, DF, Brasil,
| | | | - Bernardo Matos da Cunha
- Universidade do Planalto Central Apparecido dos Santos (UNICEPLAC), Gama, Distrito Federal, Brasil
| | - Larissa Aniceto Moreira
- Ambulatório de Osteometabolismo, Rede SARAH de Hospitais de Reabilitação, Brasília, DF, Brasil
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Sun Z, Shen C. Differential Diagnosis of Rare Diseases Involving Bilateral Lower Extremities with Similar 99mTc-MDP Bone Scan Patterns: Analysis of a Case Series. Diagnostics (Basel) 2022; 12:diagnostics12040910. [PMID: 35453958 PMCID: PMC9031204 DOI: 10.3390/diagnostics12040910] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/23/2022] [Revised: 03/27/2022] [Accepted: 04/04/2022] [Indexed: 02/04/2023] Open
Abstract
Here, we reported a panel of rare diseases involving bilateral lower extremities with similar imaging patterns on 99mTc-MDP bone scans. Glucose-6-phosphate dehydrogenase deficiency (G-6PD deficiency), Gaucher disease (GD), steroid-induced osteonecrosis, progressive diaphyseal dysplasia (PDD), Erdheim–Chester disease (ECD) and Langerhans cell sarcoma (LCS) were included and imaging characteristics were analyzed. The rare properties of these diseases and mimicking features on 99mTc-MDP bone scans rendered differential diagnosis difficult but necessary. We believe that the rarely known imaging features of the reported diseases will undoubtedly help nuclear medicine physicians make differential diagnoses in clinical practice.
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20
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Bone Tumors. Radiol Clin North Am 2022; 60:221-238. [DOI: 10.1016/j.rcl.2021.11.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
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21
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Shi R, Li X, Zhang J, Chen F, Ma M, Feng Y, Li T. Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws. Mol Genet Genomic Med 2022; 10:e1861. [PMID: 34989160 PMCID: PMC8801143 DOI: 10.1002/mgg3.1861] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2021] [Revised: 11/01/2021] [Accepted: 12/14/2021] [Indexed: 01/12/2023] Open
Abstract
BACKGROUND Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence. METHODS We present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole-exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed. RESULTS It was observed that patients with secondary sarcoma from FD showed a wide range of ages, with most during the third decade. Female and males were equally affected. Craniofacial bones and femurs were the most affected sites. High-risk factors for this occurrence included polyostotic FD, McCune-Albright syndrome and excess growth hormone. Notably, a potential relationship between thyroid hormones and sarcoma development was suggested in one patient, who began to show malignant features after hypothyroidism correction. Sanger sequencing revealed GNAS mutations of FD retained in all malignant tissues. Additionally, abnormal TP53 was demonstrated in all three cases by WES and IHC. WES also revealed two other driver mutations, ROS1 and CHD8, and large amounts of somatic copy number alterations (CNAs) where various oncogenes and tumour suppressors are located. CONCLUSION This study demonstrated and reviewed the clinical features and risk factors for a rare occurrence, secondary sarcoma from FD, and provided important new knowledge about its genetics.
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Affiliation(s)
- Ruirui Shi
- Central LaboratoryPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
- Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial RegionsChinese Academy of Medical Sciences (2019RU034)BeijingChina
| | - Xuefen Li
- Central LaboratoryPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
- Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial RegionsChinese Academy of Medical Sciences (2019RU034)BeijingChina
| | - Jianyun Zhang
- Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial RegionsChinese Academy of Medical Sciences (2019RU034)BeijingChina
- Department of Oral PathologyPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
| | - Feng Chen
- Central LaboratoryPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
| | - Ming Ma
- Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial RegionsChinese Academy of Medical Sciences (2019RU034)BeijingChina
- Department of Oral PathologyPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
| | - Yanrui Feng
- Central LaboratoryPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
| | - Tiejun Li
- Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial RegionsChinese Academy of Medical Sciences (2019RU034)BeijingChina
- Department of Oral PathologyPeking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental MaterialsBeijingPR China
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22
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Wahyudi M, Alaztha Z. Chondrosarcoma arising in monostotic fibrous dysplasia treated with total femur resection and megaprothesis: A case report. Int J Surg Case Rep 2021; 85:106194. [PMID: 34293652 PMCID: PMC8319740 DOI: 10.1016/j.ijscr.2021.106194] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2021] [Revised: 07/08/2021] [Accepted: 07/08/2021] [Indexed: 11/26/2022] Open
Abstract
INTRODUCTION Fibrous dysplasia is tumor like lesions of bone which develop as substitution of bone by an expansion of fibrous connective tissue mixed with hard trabeculae. Chondrosarcomas is one of common malignant primary bone tumor derived from heterogenous group of neoplasm producing chondroid matrix. Chondrosarcoma arising in fibrous dysplasia, especially in monostotic fibrous dysplasia is a very rare case. CASE REPORT A 54-year-old male presented with chief complaint of pain on left thigh. Patient with history of pathological fracture on left femoral diaphysis 3 years ago due to fibrous dysplasia and had underwent curettage, open reduction, and internal fixation at other hospital. Plain radiography revealed expansive lytic lesion, interrupted periosteal reaction with plate and screw attached to the lesion, and soft tissue mass. MRI T2FS sequence showed hyperintense mass extending from subtrochanteric to distal of left femoral diaphysis. Histopathological result from biopsy suggested chondrosarcoma. CONCLUSIONS Malignant transformation of monostotic type was less frequently compared to polyostotic type. Among all malignant transformation cases, alteration to chondrosarcoma was more scarce than other malignancy such as osteosarcoma and fibrosarcoma. Wide surgical margin and reconstruction in chondrosarcoma provide good local control and functional outcome.
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Affiliation(s)
- Muhammad Wahyudi
- Department of Orthopaedic and Traumatology, Fatmawati General Hospital, Indonesia
| | - Ziad Alaztha
- Department of Orthopaedic and Traumatology, Faculty of Medicine Universitas Indonesia, Dr. Cipto Mangunkusumo Hospital, Indonesia.
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23
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Low XZ, Lim MC, Nga V, Sundar G, Tan AP. Clinical application of "black bone" imaging in paediatric craniofacial disorders. Br J Radiol 2021; 94:20200061. [PMID: 34233472 DOI: 10.1259/bjr.20200061] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
Abstract
For decades, CT has been the primary imaging modality for the diagnosis and surveillance of paediatric craniofacial disorders. However, the deleterious effects of ionising radiation in the paediatric population are well established and remain an ongoing concern. This is especially so in the head and neck region, which has relatively poor soft tissue shielding with many radiosensitive organs. The development of "black bone" imaging utilising low flip angles and short echo time (TE) has shown considerable promise in alleviating the use of ionising radiation in many cases of craniofacial disorders. In this review article, we share our experience of utilising "black bone" sequence in children with craniofacial pathologies, ranging from traumatic injuries to craniosynostosis and focal osseous/fibro-osseous lesions such as fibrous dysplasia and Langerhans cell histiocytosis (LCH). A detailed discussion on the technical aspects of "black bone" sequence, including its potential pitfalls and limitations, will also be included.
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Affiliation(s)
- Xi Zhen Low
- Department of Diagnostic Imaging, National University Hospital, Singapore, Singapore
| | - Mei Chin Lim
- Department of Diagnostic Imaging, National University Hospital, Singapore, Singapore
| | - Vincent Nga
- Division of Neurosurgery, Department of Surgery, National University Hospital, Singapore, Singapore
| | - Gangadhara Sundar
- Dept of Ophthalmology, National University Hospital, Singapore, Singapore
| | - Ai Peng Tan
- Department of Diagnostic Imaging, National University Hospital, Singapore, Singapore
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24
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Khodarahmi I, Alizai H, Chalian M, Alaia EF, Burke CJ, Slasky SE, Wenokor C. Imaging Spectrum of Calvarial Abnormalities. Radiographics 2021; 41:1144-1163. [PMID: 34197249 DOI: 10.1148/rg.2021200198] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
Calvarial abnormalities are usually discovered incidentally on radiologic studies or less commonly manifest with symptoms. This narrative review describes the imaging spectrum of the abnormal calvaria. The extent, multiplicity, and other imaging features of calvarial abnormalities can be combined with the clinical information to establish a final diagnosis or at least narrow the differential considerations. Prior trauma (congenital depression, leptomeningeal cysts, posttraumatic osteolysis), surgical intervention (flap osteonecrosis and burr holes), infection, and inflammatory processes (sarcoidosis) can result in focal bone loss, which may also be seen with idiopathic disorders without (bilateral parietal thinning and Gorham disease) or with (Parry-Romberg syndrome) atrophy of the overlying soft tissues. Anatomic variants (arachnoid granulations, venous lakes, parietal foramina) and certain congenital lesions (epidermoid and dermoid cysts, atretic encephalocele, sinus pericranii, and aplasia cutis congenita) manifest as solitary lytic lesions. Other congenital entities (lacunar skull and dysplasia) display a diffuse pattern of skull involvement. Several benign and malignant primary bone tumors involve the calvaria and manifest as lytic, sclerotic, mixed lytic and sclerotic, or thinning lesions, whereas multifocal disease is mainly due to hematologic or secondary malignancies. Metabolic disorders such as rickets, hyperparathyroidism, renal osteodystrophy, acromegaly, and Paget disease involve the calvaria in a more diffuse pattern. Online supplemental material is available for this article. ©RSNA, 2021.
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Affiliation(s)
- Iman Khodarahmi
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Hamza Alizai
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Majid Chalian
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Erin F Alaia
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Christopher J Burke
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Shira E Slasky
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
| | - Cornelia Wenokor
- From the Division of Musculoskeletal Imaging, Department of Radiology, New York University School of Medicine, Center for Biomedical Imaging, 660 First Ave, Room 223, New York, NY 10016 (I.K., E.F.A., C.J.B.); Department of Radiology, Scottish Rite Hospital for Children, Dallas, Tex (H.A.); Division of Musculoskeletal Imaging and Intervention, Department of Radiology, University of Washington, Seattle, Wash (M.C.); Division of Neuroradiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY (S.E.S.); and Division of Musculoskeletal Radiology, Department of Radiology, Rutgers University Hospital, Newark, NJ (C.W.)
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Hagelstein-Rotman M, Meier ME, Majoor BCJ, Cleven AHG, Dijkstra PDS, Hamdy NAT, van de Sande MAJ, Dekkers OM, Appelman-Dijkstra NM. Increased Prevalence of Malignancies in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS): Data from a National Referral Center and the Dutch National Pathology Registry (PALGA). Calcif Tissue Int 2021; 108:346-353. [PMID: 33226445 DOI: 10.1007/s00223-020-00780-6] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/11/2020] [Accepted: 11/05/2020] [Indexed: 01/14/2023]
Abstract
Malignant transformation of fibrous dysplasia lesions has been reported in patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS). Recently, we have observed an increased risk for breast cancer. In this study, the prevalence of skeletal and extraskeletal malignancies in patients with FD/MAS in the Netherlands was assessed by analyzing data from our cohort of FD/MAS patients, the Dutch Pathology Registry (PALGA), and the Netherlands Cancer Registry (NCR). We extracted data on sex, age at diagnosis of FD/MAS, type of FD/MAS, type of malignancy, and age at diagnosis of malignancy and histology of bone and malignant tissue when available, including GNAS-mutation analysis from patients' medical records. Standardized Morbidity Ratios (SMRs) with 95% confidence intervals were calculated. Twelve malignancies were identified in the LUMC FD/MAS cohort and 100 in the PALGA cohort. In this cohort, SMR was increased for osteosarcoma (19.7, 95% CI 3.5-48.9), cervical cancer (4.93, 95%CI 1.7-8.2), thyroid cancer (3.71, 95% CI 1.1-7.8), prostate cancer (3.08, 95% CI 1.8-4.6), and melanoma (2.01, 95%CI 1.2-3.1). SMRs for pancreatic cancer or hepatocellular carcinoma could not be calculated due to low numbers. The small number of malignancies identified in our FD/MAS cohort precluded the calculation of SMRs for our cohort specifically. Our findings show that patients with FD/MAS appear to have an increased risk for osteosarcoma, cervical, thyroid, and prostate cancer and melanoma. However, these data should be interpreted with caution, as true incidence rates of the identified malignancies may be influenced by the inclusion of only patients with histologically confirmed FD/MAS. The etiology of this increased risk for malignancies still needs to be elucidated.
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Affiliation(s)
- M Hagelstein-Rotman
- Department of Medicine, Division Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
| | - M E Meier
- Department of Orthopaedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - B C J Majoor
- Department of Orthopaedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - A H G Cleven
- Department of Pathology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - P D S Dijkstra
- Department of Orthopaedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - N A T Hamdy
- Department of Medicine, Division Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - M A J van de Sande
- Department of Orthopaedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - O M Dekkers
- Department of Medicine, Division Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
- Department of Epidemiology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
- Department of Epidemiology, Aarhus University Hospital, Aarhus, Denmark
| | - N M Appelman-Dijkstra
- Department of Medicine, Division Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
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Pan B, Wang SC, Xi-Chen. 18F-FDG PET findings of a case of polyostotic fibrous dysplasia. INTERDISCIPLINARY NEUROSURGERY 2021. [DOI: 10.1016/j.inat.2020.100990] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022] Open
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Bachelet JT, Granzotto A, Ferlazzo M, Sonzogni L, Berthel E, Devic C, Foray N. First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment. Int J Radiat Biol 2021; 97:317-328. [PMID: 33320757 DOI: 10.1080/09553002.2021.1864045] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
Abstract
PURPOSE MacCune-Albright syndrome (MAS) is a rare autosomal dominant osteo-hormonal disorder. MAS is characterized by a severe form of polyostotic fibrous dysplasia, 'café-au-lait' pigmentation of the skin and multiple endocrinopathies. MAS was shown to be caused by mosaic missense somatic mutations in the GNAS gene coding for the alpha-subunit of the stimulatory G-protein. MAS is also associated with radiation-induced malignant tumors, like osteosarcoma, fibrosarcoma and chondrosarcoma but their origin remains misunderstood. In parallel, bisphosphonates treatment was shown to improve the MAS patients' outcome, notably by increasing bone density but, again, the molecular mechanisms supporting these observations remain misunderstood. MATERIALS AND METHODS Here, by using fibroblast and osteoblast cell lines derived from 2 MAS patients, the major radiobiological features of MAS were investigated. Notably, the clonogenic cell survival, the micronuclei and the γH2AX, pATM and MRE11 immunofluorescence assays were applied to MAS cells. RESULTS It appears that cells from the 2 MAS patients are associated with a moderate but significant radiosensitivity, a delayed radiation-induced nucleoshuttling of the ATM kinase likely caused by its sequestration in cytoplasm, suggesting impaired DNA double-strand breaks (DSB) repair and signaling in both fibroblasts and osteoblasts. Such delay may be partially corrected by using bisphosphonates combined with statins, which renders cells more radioresistant. CONCLUSIONS Our findings represent the first radiobiological characterization of fibroblasts and osteoblasts providing from MAS patients. Although the number of studied cases is reduced, our findings suggest that the MAS cells tested belong to the group of syndromes associated with moderate but significant radiosensitivity. Further investigations are however required to secure the clinical transfer of the combination of bisphosphonates and statins, to reduce the disease progression and to better evaluate the potential risks linked to radiation exposure.
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Affiliation(s)
- Jean-Thomas Bachelet
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Adeline Granzotto
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Mélanie Ferlazzo
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Laurène Sonzogni
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Elise Berthel
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Clément Devic
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
| | - Nicolas Foray
- Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France
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Wang J, Du Z, Li D, Yang R, XiaodongTang, Yan T, Guo W. Increasing serum alkaline phosphatase is associated with bone deformity progression for patients with polyostotic fibrous dysplasia. J Orthop Surg Res 2020; 15:583. [PMID: 33272306 PMCID: PMC7713166 DOI: 10.1186/s13018-020-02073-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/06/2020] [Accepted: 11/05/2020] [Indexed: 11/10/2022] Open
Abstract
BACKGROUND Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of Shepherd's crook deformity. How to predict the progression of Shepherd's crook deformity is still a challenging for the orthopedic surgeon. METHODS A total of 159 cases were reviewed in the retrospective study between January 2000 and September 2016. Clinical and monitoring data were collected. We analyzed the correlationship between the bone turnover markers and other parameters (age, gender, FD type, deformity, BMI, and lesion location). RESULTS Age, gender, lesion location, lesion type, and shepherd's crook deformity had a close relationship with preoperative ALP level in the univariate analysis, and the multivariate analysis showed age, gender, lesion type, and shepherd's crook deformity had the significant relationship with the preoperative serum ALP level. The surgery could remove the bone lesion and suppressed the abnormal bone metabolism. Furthermore, the preoperative ALP level of FD patients with the shepherd's crook deformity was obviously higher than that without deformity, and the preoperative calcium and phosphorus levels of FD patients with deformity were significantly lower than that without deformity. Notably, for some patients with progression of the shepherd's crook deformity during the follow-up, ALP increased to the high level and at that time X-ray showed the shepherd's crook deformity severely progressing. CONCLUSIONS PFD with higher serum ALP level has obvious tendency to progress severely, and risk factors of progression to the deformity are the condition of bony metabolism and FD type. The deformity of PFD may be related to high speed of bone turnover, which is exactly reflected by the levels of serum ALP and calcium. Evaluation of patients with FD should include a thorough evaluation of calcium/phosphate metabolism and bone turnover.
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Affiliation(s)
- Jun Wang
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - Zhiye Du
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - Dasen Li
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - Rongli Yang
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - XiaodongTang
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - Taiqiang Yan
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China
| | - Wei Guo
- Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China.
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Okuda M, Kobayashi S, Gabata T, Yamamoto N, Nojima T. Undifferentiated Pleomorphic Sarcoma Arising in a Fibrous Dysplasia Confirmed by GNAS Mutation Analysis: A Case Report. JBJS Case Connect 2020; 10:e20.00157. [PMID: 33438968 DOI: 10.2106/jbjs.cc.20.00157] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022]
Abstract
CASE We report the case of a 78-year-old woman with undifferentiated pleomorphic sarcoma (UPS) of the proximal femur arising in a previous site of fibrous dysplasia (i.e., a liposclerosing myxofibrous tumor) that had been treated 4 years earlier with curetted surgery. GNAS mutation was detected in both the previous benign lesion and the UPS. CONCLUSION Genetic analysis is useful in demonstrating the origin of the tumor especially in fibrous dysplasia with severe degeneration that have undergone malignant transformation.
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Affiliation(s)
- Miho Okuda
- Department of Radiology, Kanazawa University Hospital, Kanazawa, Japan
| | - Satoshi Kobayashi
- Department of Quantum Medical Technology, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
| | - Toshifumi Gabata
- Department of Radiology, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
| | - Norio Yamamoto
- Department of Advanced and Innovative Musculoskeletal Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
| | - Takayuki Nojima
- Department of Diagnostic Pathology, Kanazawa University Hospital, Kanazawa, Japan
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Pan KS, de Castro LF, Roszko KL, Greenberg ED, FitzGibbon EJ, Dufresne CR, Boyce AM, Collins MT. Successful Intravascular Treatment of an Intraosseous Arteriovenous Fistula in Fibrous Dysplasia. Calcif Tissue Int 2020; 107:195-200. [PMID: 32556405 PMCID: PMC7449234 DOI: 10.1007/s00223-020-00712-4] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/21/2020] [Accepted: 05/25/2020] [Indexed: 10/24/2022]
Abstract
Fibrous dysplasia (FD) is a benign bone disease characterized by expansile lesions that typically stabilize with age. Rarely, FD can undergo malignant transformation, presenting with atypical, rapid growth and destruction of adjacent bone. Other potential causes of rapid FD expansion include secondary lesions, such as aneurysmal bone cysts. We describe a case of an aggressive occipital lesion that presented with pain associated with diplopia and tinnitus, raising concern for malignant transformation. A massive intraosseous arteriovenous fistula was identified giving rise to an anomalous vein coursing to the cavernous sinus with compression of the abducens nerve. The vascular anomaly was mapped and after embolization symptoms resolved; a biopsy with extensive genetic analyses excluded malignancy. The differential diagnosis for expanding FD lesions includes aggressive FD, malignant transformation, and secondary vascular anomalies. In cases when traditional radiographic and histologic assessments are nondescript, use of additional radiographic modalities and genetic analyses are required to make an accurate diagnosis and guide treatment. When vascular anomalies are suspected, detailed angiography with embolization is necessary to define and treat the lesion. However, to rule out malignant transformation, genetic screening is recommended.
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Affiliation(s)
- Kristen S Pan
- Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 207, Bethesda, MD, 20892-4320, USA.
| | - Luis F de Castro
- Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 207, Bethesda, MD, 20892-4320, USA
| | - Kelly L Roszko
- Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 207, Bethesda, MD, 20892-4320, USA
| | | | - Edmond J FitzGibbon
- Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
| | - Craig R Dufresne
- Department of Plastic Surgery, Georgetown University, Washington, DC, USA
| | - Alison M Boyce
- Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 207, Bethesda, MD, 20892-4320, USA
| | - Michael T Collins
- Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 207, Bethesda, MD, 20892-4320, USA
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Kinnunen AR, Sironen R, Sipola P. Magnetic resonance imaging characteristics in patients with histopathologically proven fibrous dysplasia-a systematic review. Skeletal Radiol 2020; 49:837-845. [PMID: 32040603 PMCID: PMC7170814 DOI: 10.1007/s00256-020-03388-x] [Citation(s) in RCA: 20] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/14/2019] [Revised: 01/08/2020] [Accepted: 01/28/2020] [Indexed: 02/02/2023]
Abstract
OBJECTIVE To examine the demographics, lesion location, and characteristic magnetic resonance imaging (MRI) findings in patients with histopathologically proven fibrous dysplasia (FD). MATERIALS AND METHODS A systematic literature search of the MRI findings in patients with histologically proven FD was performed. Altogether, 76 articles with 136 patients were evaluated. RESULTS The mean age of the patients was 35.0 + - 18.5 years (range 1 month-75 years). Fifty-eight of the cases were females, 51 males, and in 27 gender was not defined. The most common locations were craniofacial (n = 55 (40%)), long bones (n = 31 (23%)), and spine (n = 24 (18%)). The monostotic form of FD was the most common. Signal intensities (SI) on T1-weighted images were predominantly hypointense (n = 46 (37%)). The SI was highly variable on T2-weighted images with hyperintensity being most common (n = 22 (18%)). Contrast enhancement was found in 75 (55%) FD patients. Secondary aneurysmal bone cysts (ABCs) and malignant transformation in patients without prior radiotherapy was found in some patients. CONCLUSION Current knowledge of the MRI findings in patients with FD is based mainly on case reports. SI in patients with FD is variable and contrast enhancement is common. FD may explain etiology of spinal bone tumor in some patients. FD with malignant transformation should be considered also in patients without prior radiotherapy. Further studies are needed to clarify if FD displays specific characteristics allowing it to be distinguished from other bone tumors.
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Affiliation(s)
- Anna-Reetta Kinnunen
- Institute of Clinical Medicine, University of Eastern Finland, Yliopistonranta 1, 70210, Kuopio, Finland.
| | - Reijo Sironen
- Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland
| | - Petri Sipola
- Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland
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Elangovan SM, Sebro R. Positron emission tomography/computed tomography imaging appearance of benign and classic “do not touch” osseous lesions. World J Radiol 2019; 11:81-93. [PMID: 31396371 PMCID: PMC6597458 DOI: 10.4329/wjr.v11.i6.81] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/06/2019] [Revised: 05/11/2019] [Accepted: 06/21/2019] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Classic “do not touch” and benign osseous lesions are sometimes detected on 18-F-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) studies. These lesions are often referred for biopsy because the physician interpreting the PET/CT may not be familiar with the spectrum of 18F-FDG uptake patterns that these lesions display.
AIM To show that “do not touch” and benign osseous lesions can have increased 18F-FDG uptake above blood-pool on PET/CT; therefore, the CT appearance of these lesions should dictate management rather than the standardized uptake values (SUV).
METHODS This retrospective study evaluated 287 independent patients with 287 classic “do not touch” (benign cystic lesions, insufficiency fractures, bone islands, bone infarcts) or benign osseous lesions (hemangiomas, enchondromas, osteochondromas, fibrous dysplasia, Paget’s disease, osteomyelitis) who underwent 18F-FDG positron emission tomography/computed tomography (PET/CT) at a tertiary academic healthcare institution between 01/01/2006 and 12/1/2018. The maximum and mean SUV, and the ratio of the maximum SUV to mean blood pool were calculated. Pearson’s correlations between lesion size and maximum SUV were calculated.
RESULTS The ranges of the maximum SUV were as follows: For hemangiomas (0.95-2.99), bone infarcts (0.37-3.44), bone islands (0.26-3.29), enchondromas (0.46-2.69), fibrous dysplasia (0.78-18.63), osteochondromas (1.11-2.56), Paget’s disease of bone (0.93-5.65), insufficiency fractures (1.06-12.97) and for osteomyelitis (2.57-12.64). The range of the maximum SUV was lowest for osteochondromas (maximum SUV 2.56) and was highest for fibrous dysplasia (maximum SUV of 18.63). There was at least one lesion that demonstrated greater 18F-FDG avidity than the blood pool amongst each lesion type, with the highest maximum SUV ranging from 9.34 times blood pool mean (osteomyelitis) to 1.42 times blood pool mean (hemangiomas). There was no correlation between the maximum SUV and the lesion size except for enchondromas. Larger enchondromas had higher maximum SUV (r = 0.36, P = 0.02).
CONCLUSION The classic “do not touch” lesions and classic benign lesions can be 18F-FDG avid. The CT appearance of these lesions should dictate clinical management rather than the maximum SUV.
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Affiliation(s)
- Stacey M Elangovan
- Department of Radiology, University of Pennsylvania, Philadelphia, PA 19104, United States
| | - Ronnie Sebro
- Department of Radiology, University of Pennsylvania, Philadelphia, PA 19104, United States
- Department of Orthopedic Surgery, University of Pennsylvania, Philadelphia, PA 19104, United States
- Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, United States
- Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA 19104, United States
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Malignant transformation of craniofacial fibrous dysplasia: a systematic review of overall survival. Neurosurg Rev 2019; 43:911-921. [DOI: 10.1007/s10143-019-01089-1] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2018] [Revised: 01/18/2019] [Accepted: 02/20/2019] [Indexed: 12/23/2022]
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Decmann A, Patócs A, Igaz P. Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors. EXPERIENTIA SUPPLEMENTUM (2012) 2019; 111:105-127. [PMID: 31588530 DOI: 10.1007/978-3-030-25905-1_7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/10/2023]
Abstract
In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary hyperparathyroidism, and neuroendocrine tumors. McCune-Albright syndrome that only exists in non-hereditary, sporadic forms is also discussed in detail, as tumors of several endocrine organs can develop in the same individual.
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Affiliation(s)
- Abel Decmann
- 2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
| | - Attila Patócs
- Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
- "Lendület" Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
- Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
| | - Peter Igaz
- 2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
- MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
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Zoccali C, Attala D, Rossi B, Zoccali G, Ferraresi V. Fibrous dysplasia: an unusual case of a very aggressive form with costo-vertebral joint destruction and invasion of the contralateral D7 vertebral body. Skeletal Radiol 2018; 47:1571-1576. [PMID: 29789859 DOI: 10.1007/s00256-018-2961-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/13/2018] [Revised: 04/24/2018] [Accepted: 04/25/2018] [Indexed: 02/02/2023]
Abstract
Fibrous dysplasia (FD) is a benign fibro-osseous disease of the bone that may be solitary or multicentric. It is important to distinguish this type of lesion from low-grade osteosarcomas (LGOS) and from secondary sarcomas, because malignant transformation has rarely been reported. It is classically described as having a ground-glass appearance, endosteal scalloping, and thinning of the cortex. Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior. We present an unusual case of aggressive FD of the 7th left rib, already diagnosed more than 22 years ago, where cortical and costo-vertebral joint disruption and 7th thoracic vertebral body involvement were not evidence of malignant behavior. From a histological perspective, FD and LGOS are similar; even if histology is of fundamental importance, the diagnosis has to be made based on the clinical and radiological aspects as well, although at imaging, differentiation between FD and LGOS can be difficult. In the present case, even though the histological examination suggested a benign lesion, the radiological examination instead consistently suggests malignancy. It is for this reason that there should be a high index of suspicion during follow-up and a new biopsy should be scheduled in case any changes occur during follow-up.
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Affiliation(s)
- Carmine Zoccali
- Oncological Orthopaedics Department, Muscular-skeletal Tissue Bank, IFO-Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144, Rome, Italy
| | - Dario Attala
- Oncological Orthopaedics Department, Muscular-skeletal Tissue Bank, IFO-Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144, Rome, Italy
| | - Barbara Rossi
- Orthopaedics Department, Gubbio General Hospital, Largo Unità d'Italia, Loc. Branca, 06024, Gubbio, PG, Italy
| | - Giovanni Zoccali
- Department of Plastic Surgery, Guy's and St. Thomas' Hospital, NHS Foundation Trust, London, UK. .,IFO-Regina Elena National Cancer Institute, Via Elio Chianesi 53, Rome, Italy.
| | - Virginia Ferraresi
- Medical Oncology "A", IFO-Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144, Rome, Italy
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Ahn SJ, Hong JW, Kim YO, Lew DH, Lee WJ. Treatment of fibrous dysplasia of the zygomaticomaxillary complex with radical resection and three-dimensional reconstruction with autologous calvarial bone graft. Arch Craniofac Surg 2018; 19:200-204. [PMID: 30282430 PMCID: PMC6177671 DOI: 10.7181/acfs.2018.00052] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2018] [Accepted: 05/24/2018] [Indexed: 01/11/2023] Open
Abstract
Fibrous dysplasia (FD) is a rare, benign bone disease with abnormal bone maturation and fibroblastic proliferation. Optimal treatment of zone 1 craniofacial FD is radical resection and reconstruction. To achieve of structural, aesthetic, and functional goals, we use three-dimensionally designed calvarial bone graft for reconstruction of zygomatic defect after radical resection of FD. The authors used a rapid-prototyping model for simulation surgery for radical resection and immediate reconstruction. Donor site was selected from parietal bone reflect shape, contour, and size of defect. Then radical resection of lesion and immediate reconstruction was performed as planned. Outcomes were assessed using clinical photographs and computed tomography scans. Successful reconstruction after radical resection was achieved by three-dimensional calvarial bone graft without complications. After a 12-month follow-up, sufficient bone thickness and symmetric soft tissue contour was well-maintained. By considering three-dimensional configuration of zygomaticomaxillary complex, the authors achieved satisfactory structural, aesthetic and functional outcomes without complications.
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Affiliation(s)
- Sung Jae Ahn
- Department of Plastic and Reconstructive Surgery, Yonsei University College of Medicine, Seoul, Korea
| | - Jong Won Hong
- Department of Plastic and Reconstructive Surgery, Yonsei University College of Medicine, Seoul, Korea.,Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Korea
| | - Yong Oock Kim
- Department of Plastic and Reconstructive Surgery, Yonsei University College of Medicine, Seoul, Korea.,Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Korea
| | - Dae Hyun Lew
- Department of Plastic and Reconstructive Surgery, Yonsei University College of Medicine, Seoul, Korea.,Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Korea
| | - Won Jai Lee
- Department of Plastic and Reconstructive Surgery, Yonsei University College of Medicine, Seoul, Korea.,Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Korea
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Martini M, Klausing A, Heim N, Fischer HP, Sommer A, Reich RH. Fibrous dysplasia imitating malignancy. J Craniomaxillofac Surg 2018; 46:1313-1319. [PMID: 29859820 DOI: 10.1016/j.jcms.2018.05.019] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/22/2018] [Revised: 04/06/2018] [Accepted: 05/07/2018] [Indexed: 11/19/2022] Open
Abstract
Fibrous dysplasia is a benign bone disease, presenting as monostotic or polyostotic lesions, or as part of a syndrome (McCune-Albright/Mazabraud). Its clinical course shows a variegated picture and the progression of its growth is unpredictable. In the workup of 39 fibrous dysplasia cases in the cranio-facial area, four cases presented fast growth tendencies, of which two patients with McCune-Albright syndrome showed malignant-like rapid growth. This local aggressive form is extremely rare, and the concept of this issue has not been clearly defined. With regard to the speed of growth a volumetric-time analysis in one of our cases demonstrated a 74 days tumor doubling rate with an exponential growth curve. According to the literature the aggressive form presented extra-cranially mainly at an adult age, whereas its appearance in our cranio-facial patient collective was much younger. Distinguishing nonmalignant and malignant aggressive forms is difficult and highly inconsistent in the literature. We therefore implemented a quantitative growth measure analysis to define aggressive forms based on progression and speed of growth and impartial of type of FD, localization or functional incapacity. Due to our study findings and literature review we state a prevalence of an aggressive form might be possibly about 5 %.
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Affiliation(s)
- Markus Martini
- Department of Maxillofacial and Plastic Surgery, (Head: Prof. Dr. Dr. R. H. Reich), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
| | - Anne Klausing
- Department of Maxillofacial and Plastic Surgery, (Head: Prof. Dr. Dr. R. H. Reich), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany
| | - Nils Heim
- Department of Maxillofacial and Plastic Surgery, (Head: Prof. Dr. Dr. R. H. Reich), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany
| | - Hans-Peter Fischer
- Department of Pathology, (Head: Prof. Dr. G. Kristiansen), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany
| | - Alexandra Sommer
- Department of Radiology, (Head: Prof. Dr. H. H. Schild), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany
| | - Rudolf Hermann Reich
- Department of Maxillofacial and Plastic Surgery, (Head: Prof. Dr. Dr. R. H. Reich), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany
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Zhang L, He Q, Li W, Zhang R. The value of 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia. BMC Med Imaging 2017; 17:46. [PMID: 28738834 PMCID: PMC5525212 DOI: 10.1186/s12880-017-0218-4] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2017] [Accepted: 07/17/2017] [Indexed: 11/10/2022] Open
Abstract
Background Fibrous dysplasia (FD) is a rare benign bone disorder in which the normal bone is replaced by immature fibro-osseous tissue. However, some case reports have reported that FD showed significantly increased 99mTc-methylene diphosphonate (99mTc-MDP) uptake on whole-body bone scintigraphy (WBS), which may mimic bone metastasis or skeletal involvement of the patients with known cancer. Thus, the purpose of present study is to observe the reliable characteristics and usefulness of single photon emission computed tomography/computed tomography (SPECT/CT) for the diagnosis of FD. Methods This was a retrospective review of 21 patients with FD (14 males and 7 females, mean age 51.2 ± 12.5 years) who were referred to have WBS to determine whether there was any osseous metastasis. WBS and SPECT/CT images were independently interpreted by two experienced nuclear medicine physician together with a diagnostic radiologist. In cases of discrepancy, consensus was obtained by a joint reading. The final diagnosis was based on biopsy proof and radiologic follow-up over at least 1 year. Results The lesions of FD were most frequently found in craniofacial region (15/21). Eighteen of the 21 (85.7%) cases showed moderate and high metabolism on WBS (compared to sternum). On CT imaging, GGO and expansion were the most common finding, were noted in 90.5% and 85.7% of the patients. Lytic lesions were present in 61.9% of the patients, and sclerosis was present in 38.1% of the patients. Cortical disruption was not seen in any patient. Conclusions FD has certain characteristic appearance on SPECT/CT. It should be enrolled in the differential diagnoses when lesions show elevated 99mTc-MDP uptake on WBS. For SPECT/CT, the CT features of GGO and expansion in the areas of abnormal radiotracer uptake are helpful for the diagnosis of FD.
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Affiliation(s)
- Linqi Zhang
- Department of Nuclear Medicine, Affiliated Cancer Hospital&Institute of Guangzhou Medical University, 78 Hengzhigang Road, Guangzhou, 510095, Guangdong province, People's Republic of China
| | - Qiao He
- Department of Nuclear Medicine, the First Affiliated Hospital of Sun Yat-Sen University, 58 Zhongshan Er Road, Guangzhou, 510080, Guangdong province, People's Republic of China
| | - Wei Li
- Department of Nuclear Medicine, Affiliated Cancer Hospital&Institute of Guangzhou Medical University, 78 Hengzhigang Road, Guangzhou, 510095, Guangdong province, People's Republic of China
| | - Rusen Zhang
- Department of Nuclear Medicine, Affiliated Cancer Hospital&Institute of Guangzhou Medical University, 78 Hengzhigang Road, Guangzhou, 510095, Guangdong province, People's Republic of China.
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Distraction osteogenesis reconstruction of large segmental bone defects after primary tumor resection: pitfalls and benefits. EUROPEAN JOURNAL OF ORTHOPAEDIC SURGERY AND TRAUMATOLOGY 2017. [PMID: 28643081 DOI: 10.1007/s00590-017-1998-5] [Citation(s) in RCA: 42] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
Abstract
Successful cure is achieved in almost 70% of patients with primary bone sarcomas with currently available therapies. Some soft tissue sarcomas require wide bone resection in order to achieve appropriate margins for cure of disease, and patients undergoing these procedures need durable reconstruction. Biological reconstruction has been shown to provide patients with superior long-term results over other alternatives. Distraction osteogenesis is well studied in the correction of deformities as well as in addressing some congenital musculoskeletal pathologies. The use of this technique in tumor settings has been avoided by many surgeons for a multitude of concerns, including infection risk, potential tumor activation, and uncertainty regarding the effect of systemic therapy on the callus regenerate. We review the use of this reconstruction technique using cases from our institutional experience to illustrate its incorporation into the successful management of orthopedic oncology patients. Distraction osteogenesis is an effective method for reconstructing even large bony defects and is safe in the setting of systemic therapy. This technique has the potential to address some of the common problems associated with orthopedic oncology resection, such as infection and leg length discrepancy.
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Sasikumar A, Joy A, Pillai MA, Alex TM, Narayanan G. 68Ga-PSMA PET/CT in Osteosarcoma in Fibrous Dysplasia. Clin Nucl Med 2017; 42:446-447. [PMID: 28346248 DOI: 10.1097/rlu.0000000000001646] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Lee BD, Lee W, Park YC, Kim MH, Choi MK, Yoon JH. Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase. Imaging Sci Dent 2016; 46:259-265. [PMID: 28035304 PMCID: PMC5192024 DOI: 10.5624/isd.2016.46.4.259] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/27/2016] [Revised: 08/05/2016] [Accepted: 09/11/2016] [Indexed: 11/18/2022] Open
Abstract
Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease.
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Affiliation(s)
- Byung-Do Lee
- Department of Oral and Maxillofacial Radiology and Research Institute of Dental Education, College of Dentistry, Wonkwang University, Iksan, Korea
| | - Wan Lee
- Department of Oral and Maxillofacial Radiology, College of Dentistry, Wonkwang University, Iksan, Korea
| | - Yong-Chan Park
- Department of Oral and Maxillofacial Radiology, College of Dentistry, Wonkwang University, Iksan, Korea
| | - Myoung-Hyoun Kim
- Department of Nuclear Medicine, Wonkwang University, School of Medicine and Institute of Wonkwang Medical Science, Iksan, Korea
| | - Moon-Ki Choi
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Wonkwang University, Iksan, Korea
| | - Jung-Hoon Yoon
- Department of Oral and Maxillofacial Pathology, College of Dentistry, Wonkwang Bone Regeneration Research Institute, Daejeon Dental Hospital, Wonkwang University, Daejeon, Korea
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42
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Burke AB, Collins MT, Boyce AM. Fibrous dysplasia of bone: craniofacial and dental implications. Oral Dis 2016; 23:697-708. [PMID: 27493082 DOI: 10.1111/odi.12563] [Citation(s) in RCA: 88] [Impact Index Per Article: 9.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2016] [Accepted: 08/01/2016] [Indexed: 12/13/2022]
Abstract
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.
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Affiliation(s)
- A B Burke
- Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - M T Collins
- Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - A M Boyce
- Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.,Division of Endocrinology and Diabetes, Children's National Health System, Washington, D.C., USA.,Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System, Washington, D.C., USA
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Mainville GN, Turgeon DP, Kauzman A. Diagnosis and management of benign fibro-osseous lesions of the jaws: a current review for the dental clinician. Oral Dis 2016; 23:440-450. [PMID: 27387498 DOI: 10.1111/odi.12531] [Citation(s) in RCA: 32] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2016] [Revised: 06/28/2016] [Accepted: 07/02/2016] [Indexed: 02/07/2023]
Abstract
Benign fibro-osseous lesions of the maxillofacial skeleton constitute a heterogeneous group of disorders that includes developmental, reactive (dysplastic) and neoplastic lesions. Although their classification has been reviewed multiple times in the past, the most common benign fibro-osseous lesions are fibrous dysplasia, osseous dysplasia and ossifying fibroma. For the dental clinician, the challenges involve diagnosis and treatment (or lack thereof). A careful correlation of all clinical, radiologic and microscopic features is essential to establish a proper diagnosis and a clear treatment plan. This article aimed to review the clinical, radiologic and histopathologic characteristics of benign fibro-osseous lesions of the jaws, with emphasis on their differential diagnoses. With a deeper understanding of benign fibro-osseous lesions, clinicians will be better prepared to manage these lesions in their practice.
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Affiliation(s)
- G N Mainville
- Department of Stomatology, Faculty of Dentistry, Université de Montréal, Montreal, QC, Canada
| | - D P Turgeon
- Department of Stomatology, Faculty of Dentistry, Université de Montréal, Montreal, QC, Canada
| | - A Kauzman
- Department of Stomatology, Faculty of Dentistry, Université de Montréal, Montreal, QC, Canada
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A Rare Cause of Shoulder Pain: Monostotic Fibrous Dysplasia. Arch Rheumatol 2016; 31:184-187. [PMID: 29900939 DOI: 10.5606/archrheumatol.2016.5828] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/21/2015] [Accepted: 01/15/2016] [Indexed: 11/21/2022] Open
Abstract
Fibrous dysplasia is a rare bone disease which has a wide spectrum of symptoms depending on the involvement area such as pain, deformity, fracture, dyspnea or visual loss. One of the rare involvement areas is the bones around the shoulder. Fibrous dysplasia presents in two forms named monostotic or polyostotic. In this article, we present a case with monostotic fibrous dysplasia of the humeral head who admitted to our clinic with shoulder pain.
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