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Battistelli M, Grilli F, Rapisarda A, Di Domenico M, Montano N, Gessi M, Olivi A, Albanese A, Polli FM. Unsatisfactory Neurological Outcome in an Intramedullary Thoracic Intermediate-Grade Melanocytoma-Systematic Review and Illustrative Case. Cancers (Basel) 2024; 16:1867. [PMID: 38791946 PMCID: PMC11119811 DOI: 10.3390/cancers16101867] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/12/2024] [Revised: 05/10/2024] [Accepted: 05/12/2024] [Indexed: 05/26/2024] Open
Abstract
BACKGROUND Intramedullary melanocytomas are exceedingly rare, with only twenty-four cases reported up to now. They present as local invasive tumors despite their benign biological behavior. Attempting a complete safe resection often results in severe post-operative neurological deficits, as in our case presented here. METHODS A systematic review was conducted across the PubMed and Scopus databases including studies published till February 2024. RESULTS A total of 19 studies were included, encompassing 24 cases. A similar distribution between sexes was noted (M:F 13:11), with ages ranging from 19 to 79 years. The thoracic segment was most affected, and intermediate-grade melanocytoma (19 cases) was the most common histotype. Radiographically, intramedullary melanocytomas usually appear as hyperintense hemorrhagic lesions peripheral to the central canal with focal nodular enhancement. Intraoperatively, they are black-reddish to tan and are tenaciously adherent lesions. In the sampled studies, IONM employment was uncommon, and post-operative new-onset neurological deficits were described in 16 cases. Adjuvant RT was used in four cases and its value is debatable. Recurrence is common (10 cases), and adjuvant therapies (RT or repeated surgery) seem to play a palliative role. CASE PRESENTATION A 68-year-old woman presented with a three-year history of worsening spastic paraparesis and loss of independence in daily activities (McCormick grade 4). An MRI revealed an intramedullary tumor from Th5 to Th7, characterized by T1-weighted hyperintensity and signs of recent intralesional hemorrhage. Multimodal neuromonitoring, comprising the D-Wave, guided the resection of a black-tan-colored tumor with hyper-vascularization and strong adherence to the white matter. During final dissection of the lesion to obtain gross total resection (GTR), a steep decline in MEPs and D-Wave signals was recorded. Post-operatively, the patient had severe hypoesthesia with Th9 level and segmental motor deficits, with some improvement during neurorehabilitation. Histopathology revealed an intermediate-grade melanocytoma (CNS WHO 2021 classification). A four-month follow-up documented the absence of relapse. CONCLUSIONS This literature review highlights that intramedullary T1 hyperintense hemorrhagic thoracic lesions in an adult patient should raise the suspicion of intramedullary melanocytoma. They present as locally aggressive tumors, due to local invasiveness, which often lead to post-operative neurological deficits, and frequent relapses, which overwhelm therapeutic strategies leading to palliative care after several years.
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Affiliation(s)
- Marco Battistelli
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Fulvio Grilli
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Alessandro Rapisarda
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Michele Di Domenico
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Nicola Montano
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Marco Gessi
- Neuropathology Unit, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Università Cattolica S. Cuore, 00168 Rome, Italy;
| | - Alessandro Olivi
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Alessio Albanese
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
| | - Filippo Maria Polli
- Department of Neurosurgery, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy; (M.B.); (F.G.); (M.D.D.); (N.M.); (A.O.); (A.A.); (F.M.P.)
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Nakamae T, Kamei N, Tanaka N, Nakanishi K, Tsuchikawa Y, Harada T, Maruyama T, Adachi N. Primary Spinal Cord Melanoma: A Two-Case Report and Literature Review. Spine Surg Relat Res 2022; 6:717-720. [PMID: 36561164 PMCID: PMC9747206 DOI: 10.22603/ssrr.2022-0024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/26/2022] [Accepted: 03/05/2022] [Indexed: 12/25/2022] Open
Affiliation(s)
- Toshio Nakamae
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Naosuke Kamei
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Nobuhiro Tanaka
- Department of Orthopaedic Surgery, JR Hiroshima Hospital, Hiroshima, Japan
| | - Kazuyoshi Nakanishi
- Department of Orthopedic Surgery, Nihon University School of Medicine, Tokyo, Japan
| | - Yuji Tsuchikawa
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Takahiro Harada
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Toshiaki Maruyama
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Nobuo Adachi
- Department of Orthopaedic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
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Manan A, Rizvi S, Kondlapudi J. Intramedullary Spinal Cord Metastasis as Initial Presentation of Malignant Melanoma: A Unique Case Report and Role of Contrast vs Non-contrast MRI in Its Diagnosis. Cureus 2021; 13:e19731. [PMID: 34934593 PMCID: PMC8684581 DOI: 10.7759/cureus.19731] [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] [Accepted: 11/18/2021] [Indexed: 11/16/2022] Open
Abstract
Intramedullary spinal cord metastasis (ISCM) is a diagnostically challenging and dreadful complication of cancer. Twenty-seven cases of ISCM exclusively related to malignant melanoma have been reported so far in a recent study.On review of literature, we could not find any reported case with ISCM secondary to malignant melanoma as initial presentation. To the best of our knowledge, we are reporting the first such case. We report a case of a 71-year-old lady presenting with gradual onset of bilateral leg weakness “off legs” and lower limb paresthesias. On examination she had an upper motor neuron pattern lower limb weakness with reduced sensations to all modalities and brisk reflexes with extensor plantar responses. She was evaluated with non-contrast MRI (magnetic resonance imaging) spine which showed focal myelopathic cord signal at the conus and at the level of T10 and T11 vertebrae (radiological differential diagnosis given on MRI were B12 deficiency/inflammatory/infection). Thorough radiological scans were ordered which revealed a disseminated malignancy. A biopsy sample from gastric lesion revealed diagnosis of malignant melanoma. A repeat MRI whole spine with gadolinium contrast was done later with suspicion of spinal metastasis which has led to lower limb weakness. MRI with contrast showed an enhancing soft tissue metastatic mass lesion within conus in comparison with plain MRI done one week earlier. At present, diagnostic modalities available for diagnosing ISCM particularly secondary to melanoma do not have high specificity. Contrast MRI is the diagnostic modality of choice at present. Non-contrast MRI has low sensitivity in diagnosis of ISCM compared to contrast MRI and could potentially delay the management, especially in highly aggressive malignancies like malignant melanoma where an early diagnosis and treatment is critical for better outcome.
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Affiliation(s)
- Abdul Manan
- Nephrology and General Internal Medicine, The Royal Wolverhampton NHS Trust, Wolverhampton, GBR
| | - Syed Rizvi
- Acute and General Internal Medicine, University Hospitals Birmingham, Birmingham, GBR
| | - Jyothi Kondlapudi
- Nephrology and General Internal Medicine, The Royal Wolverhampton NHS Trust, Wolverhampton, GBR
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4
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Liu ZQ, Liu C, Fu JX, He YQ, Wang Y, Huang TX. Primary intramedullary melanocytoma presenting with lower limbs, defecation, and erectile dysfunction: A case report and review of the literature. World J Clin Cases 2021; 9:8616-8626. [PMID: 34754876 PMCID: PMC8554421 DOI: 10.12998/wjcc.v9.i28.8616] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/29/2021] [Revised: 06/22/2021] [Accepted: 08/06/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Primary intramedullary melanocytoma is an exceedingly rare type of primary melanocytic tumor in the central nervous system. Unfortunately, primary intramedullary melanocytoma lacks specificity in clinical symptoms and imaging features and there is currently no standard strategy for diagnosis or treatment.
CASE SUMMARY A 52-year-old male patient suffered from weakness and numbness involving the bilateral lower limbs for 18 mo, and defecation and erectile dysfunction for 6 mo. Furthermore, these symptoms started to worsen for the last 3 mo. Preoperative magnetic resonance imaging (MRI) revealed an intramedullary tumor located at the T9-T10 level. In subsequently surgery, the maximal safe resection extent approached to 98%. The lesion was confirmed to be melanocytoma by pathological examination. In addition, the possibility of original melanocytoma outside the spinal cord was excluded after the examination of the whole body. Therefore, a diagnosis of primary intramedullary melanocytoma was established. The patient refused to accept radiotherapy or Gamma Knife, but MRI examination on July 28, 2020 showed no sign of development. In addition, on April 10, 2021, the recent review showed that the disorder of defecation and lower limbs improved further but erectile dysfunction benefited a little from the surgery.
CONCLUSION After diagnosing intramedullary melanocytoma by postoperative pathology, the inspection of the whole body contributed to excluding the possibility of metastasis from other regions and further suggested a diagnosis of primary intramedullary melanocytoma. Complete resection, adjuvant radiation, and regular review are critical. In addition, maximal safe resection also benefits prognosis while the tumor is difficult to be resected totally.
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Affiliation(s)
- Zhi-Qiang Liu
- Department of Neuroscience, Erasmus Medical Center, Erasmus University Rotterdam, Rotterdam 3015 AA, Netherlands
| | - Chao Liu
- Department of Oncology, Xiangya Hospital of Central South University, Changsha 410008, Hunan Province, China
| | - Jia-Xin Fu
- Grade of 2015 in Oral Medicine, Medical College of Jinzhou Medical University, Jinzhou 121001, Liaoning Province, China
| | - Yan-Qing He
- Department of Neurosurgery, Xiangya Hospital of Central South University, Changsha 410008, Hunan Province, China
| | - Ying Wang
- Department of Neurosurgery, Xiangya Hospital of Central South University, Changsha 410008, Hunan Province, China
| | - Tian-Xiang Huang
- Department of Neurosurgery, Xiangya Hospital of Central South University, Changsha 410008, Hunan Province, China
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Kandemirli SG, Reddy A, Hitchon P, Saini J, Bathla G. Intramedullary tumours and tumour mimics. Clin Radiol 2020; 75:876.e17-876.e32. [PMID: 32591229 DOI: 10.1016/j.crad.2020.05.010] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/28/2019] [Accepted: 05/07/2020] [Indexed: 01/12/2023]
Abstract
Spinal cord lesions are traditionally classified as either extradural or intradural extramedullary or of intramedullary origin. Intramedullary spinal cord tumours are histopathologically similar to cranial tumours with a diverse range of pathologies. Astrocytomas and ependymomas account for approximately 80% of all intramedullary tumours, with other primary and secondary lesions accounting for the remaining 20%. Magnetic resonance imaging is the preferred imaging modality for diagnosing and characterising spinal cord lesions; however, accurate characterisation of tumour histology can be challenging, and is further confounded by intramedullary non-neoplastic lesions, such as demyelinating vascular, inflammatory, infectious, or traumatic lesions. This review illustrates the spectrum of intramedullary tumours and tumour mimics with emphasis on the imaging findings.
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Affiliation(s)
- S G Kandemirli
- University of Iowa Hospital and Clinics, Department of Radiology, Iowa city, IOWA, USA.
| | - A Reddy
- University of Iowa Hospital and Clinics, Department of Radiology, Iowa city, IOWA, USA
| | - P Hitchon
- University of Iowa Hospital and Clinics, Department of Neurosurgery, Iowa city, IOWA, USA
| | - J Saini
- Neuroimaging and Interventional Radiology, National Institute for Mental Health and Neurosciences (NIMHANS), Bengaluru, India
| | - G Bathla
- University of Iowa Hospital and Clinics, Department of Radiology, Iowa city, IOWA, USA
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6
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Armocida D, Pesce A, Berra LV, Marzetti F, Antonelli M, Santoro A. Intradural extramidullary dorsal melanocytoma in the adult: Case report and review of the literature. J Clin Neurosci 2019; 62:248-253. [PMID: 30580915 DOI: 10.1016/j.jocn.2018.12.004] [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: 10/30/2018] [Accepted: 12/11/2018] [Indexed: 10/27/2022]
Abstract
Intradural Extramedullary Spinal Melanocytoma (IESM) is an extremely uncommon tumour arising from the spinal leptomeninges; both from a gross pathology and microscopic point of view it can mimick its malignant counterpart, the Melanoma. Such tumours are usually solitary, with a lower proliferating rate and without obvious SC invasion. Their common differential diagnoses include Spinal Schwannoma and Spinal Meningiomas since they share a significant amount of radiological similarities. It is a relatively benign condition which is, to date, with no more than 24 previously reported cases, yet widely unexplored and poorly understood. We report the detailed clinical history of a 60 years old individual suffering from IESM and, by means of a thorough Literature review, the most relevant features concerning the epidemiological issues, the clinical course, the radiological appearance, the surgical results and the typical gross and microscopic pathology of a cohort of previously reported cases of IESM are extensively discussed and systematically investigated through statistical analyses in order to add to the relevant Literature a dedicated work concerning this rare and enigmatic condition.
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Affiliation(s)
- Daniele Armocida
- A.U.O. "Sant'Andrea", Neurosurgery Division, Sapienza University, Rome, NESMOS Department, Via di Grottarossa, 1035-1039, 00189 Roma, Italy; A.U.O. "Policlinico Umberto I", Neurosurgery Division, Sapienza University, Rome, Human Neurosciences Department, Via del Policlinico, 155, 00161 Roma, Italy.
| | - Alessandro Pesce
- A.U.O. "Sant'Andrea", Neurosurgery Division, Sapienza University, Rome, NESMOS Department, Via di Grottarossa, 1035-1039, 00189 Roma, Italy
| | - Luigi Valentino Berra
- A.U.O. "Policlinico Umberto I", Neurosurgery Division, Sapienza University, Rome, Human Neurosciences Department, Via del Policlinico, 155, 00161 Roma, Italy
| | - Francesco Marzetti
- A.U.O. "Policlinico Umberto I", Neurosurgery Division, Sapienza University, Rome, Human Neurosciences Department, Via del Policlinico, 155, 00161 Roma, Italy
| | - Manila Antonelli
- A.U.O. "Policlinico Umberto I", Neuropathology Division, Sapienza University, Rome, Human Neurosciences Department, Via del Policlinico, 155, 00161 Roma, Italy
| | - Antonio Santoro
- A.U.O. "Policlinico Umberto I", Neurosurgery Division, Sapienza University, Rome, Human Neurosciences Department, Via del Policlinico, 155, 00161 Roma, Italy
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7
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Dubey A, Kataria R, Sardana VR. Intramedullary Melanocytoma of the Cervicothoracic Cord: Case Report and Review of Literature. Asian J Neurosurg 2018; 13:478-481. [PMID: 29682066 PMCID: PMC5898137 DOI: 10.4103/1793-5482.228560] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022] Open
Abstract
Melanocytoma is rare pigmented tumor of the leptomeninges which arise from the neural crest. Intramedullary location of the tumor is extremely rare, and only a few case reports are available in the literature. We report a case of 35-year-old female with the entity who had a near total removal of the intramedullary tumor with good postoperative outcome. The available literature is reviewed.
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Affiliation(s)
- Amitesh Dubey
- Department of Neurosurgery, SMS Medical College, Jaipur, Rajasthan, India
| | - Rashim Kataria
- Department of Neurosurgery, SMS Medical College, Jaipur, Rajasthan, India
| | - Vimal R Sardana
- Department of Neurosurgery, SMS Medical College, Jaipur, Rajasthan, India
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8
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Merhemic Z, Stosic-Opincal T, Thurnher MM. Neuroimaging of Spinal Tumors. Magn Reson Imaging Clin N Am 2016; 24:563-79. [DOI: 10.1016/j.mric.2016.04.007] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
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9
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Primary intramedullary melanocytoma in the cervical spinal cord: Case report and literature review. Radiol Case Rep 2015; 10:1010. [PMID: 27408655 PMCID: PMC4921164 DOI: 10.2484/rcr.v10i1.1010] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
Abstract
A 63-year-old man with right hemiparesis was found (on MRI) to have an expansive intramedullary tumorous lesion at the C2-C3 level. After complete neurosurgical tumor resection, the tumor was histologically categorized as an intermediate grade of intramedullary melanocytoma, an uncommon neoplasm. Based on this peculiar case and review of the literature, radical surgical resection appears to be the therapy of choice for intramedullary melanocytomas. However, their high recurrence rate and aggressive behavior suggest the need for close followup with serial MRI.
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10
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Mahta A, Borys E, Vandenberg SR, Carter B, Kesari S. 72 Year Old Female with Leg Weakness. Brain Pathol 2014; 24:195-6. [DOI: 10.1111/bpa.12123] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
Affiliation(s)
- Ali Mahta
- Department of Neurosciences; Moores Cancer Center
| | - Ewa Borys
- Department of Pathology; Neuropathology division; University of California; San Diego La Jolla CA
| | - Scott R. Vandenberg
- Department of Pathology; Neuropathology division; University of California; San Diego La Jolla CA
| | - Bob Carter
- Department of Neurosurgery; University of California; San Diego La Jolla CA
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11
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Kurokawa R, Kim P, Kawamoto T, Matsuda H, Hayashi S, Yamazaki S, Hatamochi A, Mori S, Shimoda M, Kubota K. Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report. Neurol Med Chir (Tokyo) 2013; 53:730-4. [PMID: 24077274 PMCID: PMC4508742 DOI: 10.2176/nmc.cr2012-0241] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022] Open
Abstract
Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and PPV has not been reported to the best of our knowledge. Melanocytoma, which usually involves the leptomeninges or spinal cord, is extremely rare in the retroperitoneum. We present here a case of a patient with NCM, PPV, and melanocytic tumors in the spinal cord and retroperitoneum, which were treated surgically. A 40-year-old woman had a 2-year history of dysesthesia and weakness in the left leg. History included congenital giant blue nevus-like lesion in the trunk, a port-wine stain in the sacral area, and Caesarean section performed 8 years before, when diffuse pigmentation in the peritoneum was noted. Magnetic resonance (MR) imaging of the spine revealed an intramedullary tumor at T10 level with paramagnetic signal characteristics. The spinal cord tumor was totally removed, and the histological diagnosis was melanocytoma. Three months later, a left retroperitoneal mass with histological features of melanocytic tumor was removed. Neither tumors recurred and the patient stays ambulatory 4 years after the surgery. Multiple subtypes of melanocytic tumors with distinctive features of NCM and PPV can develop simultaneously, mimicking malignant melanoma. Gross total resection of each tumor, when indicated, is beneficial.
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Affiliation(s)
- Ryu Kurokawa
- Department of Neurologic Surgery, Dokkyo Medical University
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12
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Wang H, Zhang S, Wu C, Zhang Z, Qin T. Melanocytomas of the central nervous system: a clinicopathological and molecular study. Eur J Clin Invest 2013; 43:809-15. [PMID: 23683178 DOI: 10.1111/eci.12109] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/23/2012] [Accepted: 04/22/2013] [Indexed: 12/20/2022]
Abstract
BACKGROUND Melanocytomas of the Central Nervous System (CNS) are rare and benign lesions. These slow-growing tumours can behave aggressively, with local recurrence. Various genetic aberrations occur in malignant melanomas and raise possible new therapeutic options. However, little information is available regarding these characteristic genetic alterations in melanocytomas of the CNS. This study was designed to better understand the clinicopathological and molecular features of melanocytomas. MATERIALS AND METHODS Twenty cases of melanocytoma were studied by light microscopy, electron microscopy and immunohistochemistry. Clinical characteristics, therapeutic options and prognosis were analysed. BRAF, NRAS and KIT gene mutations were tested by direct DNA sequencing. RESULTS Fourteen of twenty patients had intracranial tumours including one associated with naevus of Ota and six were spinal. Histologically, these tumours contain fusiform and epithelioid cells with little or no cellular pleomorphism and rare mitoses. Immunohistochemical and ultrastructural findings confirmed the origin of tumour cells as melanocytic. None of the melanocytomas harboured BRAF, NRAS and KIT mutations. Patients with complete resection had no tumour recurrence. Moreover, patients with incomplete tumour resection followed by radiotherapy showed a higher local control (LC) rate than incomplete resection alone (P < 0·05). CONCLUSIONS BRAF, NRAS and KIT mutations appear to be rare, if not completely absent in melanocytomas of the CNS. The complete resection of the tumour or incomplete resection followed by radiotherapy should be considered as better therapeutic options to reduce the tumour recurrence.
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Affiliation(s)
- Hai Wang
- Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China
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13
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Bifocal extra- and intradural melanocytoma of the spine: case report and literature review. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2013; 22 Suppl 3:S521-5. [PMID: 23584164 DOI: 10.1007/s00586-013-2773-x] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/10/2013] [Accepted: 04/01/2013] [Indexed: 12/28/2022]
Abstract
BACKGROUND Spinal melanocytoma is one of the most infrequent space-occupying lesions of the central nervous system. To the best of our knowledge, this is the first report of primary bifocal intradural melanocytoma of heterogeneous pathological grade to date. CASE DESCRIPTION We report the case of a 43-year old patient with primary bifocal melanocytoma, clinically and radiologically resembling benign schwannoma. The patient presented with myeloradiculopathy of the left C3 dermatome. Magnetic resonance imaging of the upper spine revealed two space-occupying lesions with paraspinal extension, initially diagnosed as neurofibroma. Definitive histopathological classification of both lesions was melanocytoma. Both tumours were only partially removed due to adherence to surrounding structures. The patient underwent stereotactic external beam irradiation (EBR). Follow-up at 1 year after surgery revealed no recurrence and the patient remained free of symptoms. The clinical, radiological and pathological features of this rare tumour entity are presented and the available literature is reviewed. CONCLUSIONS Intradural melanocytoma, although exceedingly rare, requires a thorough work-up to exclude malignant melanoma. With only two previous reports of multifocal melanocytoma published in the literature, standard therapy has not yet been established and complete surgical removal remains the modality of choice. Patients should be closely monitored to detect local recurrence or malignant degeneration. EBR may be considered in cases where total excision is not achievable and reduces risk of local recurrences.
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Muthappan M, Muthu T, Hussain Z, Lamont D, Balakrishnan V. Cervical intramedullary melanocytoma: A case report and review of literature. J Clin Neurosci 2012; 19:1450-3. [PMID: 22796275 DOI: 10.1016/j.jocn.2011.09.040] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2011] [Revised: 09/08/2011] [Accepted: 09/10/2011] [Indexed: 12/27/2022]
Affiliation(s)
- M Muthappan
- Department of Neurosurgery, Waikato Hospital, 222 Pembroke Street, Hamilton 3240, New Zealand.
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15
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Cicuendez M, Paredes I, Munarriz PM, Hilario A, Cabello A, Lagares A. Primary melanoma of the cauda equina: Case report and review of the literature. Neurocirugia (Astur) 2012; 23:112-5. [PMID: 22561234 DOI: 10.1016/j.neucir.2012.02.003] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2011] [Accepted: 02/02/2012] [Indexed: 02/07/2023]
Abstract
The authors report the case of an 82 year-old woman with a primary malignant melanoma of the cauda equina resembling lumbar schwannoma in the MRI study. Melanocytic neoplasms are very rare but they should be included in the differential diagnosis of lesions involving the spinal nerves. The treatment of choice for these lesions is complete resection followed by radiotherapy. The outcomes reported in the literature are variable and are associated with the age of presentation, histopathological findings, extent of surgical resection and absence of metastatic lesions.
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Affiliation(s)
- Marta Cicuendez
- Department of Neurosurgery, Hospital 12 de Octubre, Madrid, Spain
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Hou GQ, Sun JC, Zhang XJ, Shen BX, Zhu XJ, Liang L, Zhang XL. MR imaging findings of the intraspinal meningeal melanocytoma: correlation with histopathologic findings. AJNR Am J Neuroradiol 2012; 33:1525-9. [PMID: 22442042 DOI: 10.3174/ajnr.a2987] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
Our aim was to better understand and improve the accuracy of the preoperative diagnosis of intraspinal MM by a combined analysis of MR imaging and pathologic findings. All 5 patients had undergone unenhanced and contrast-enhanced MR imaging examinations. All tumor samples had immunohistochemical reactions to HMB-45, vimentin, S-100, EMA, and Leu-7 antibodies. All 5 cases were located in the intradural extramedullary compartment. Two cases had multifocal lesions, and 3 cases were solitary. Two cases showed homogeneously strong enhancement, and 3 cases showed moderate enhancement on contrast-enhanced T1WI. The tumor cells had positive reactions to HMB-45, vimentin, and S-100 antibodies. MR imaging plays an important role in the detection and diagnosis of intraspinal MM. Final diagnosis should be based on histopathology and IHC examinations.
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Affiliation(s)
- G Q Hou
- Department of Medical Image Center, Nanshan Hospital, Guangdong Medical College, Guangdong Province, People's Republic of China
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Perrini P, Caniglia M, Pieroni M, Castagna M, Parenti GF. Malignant transformation of intramedullary melanocytoma: case report. Neurosurgery 2011; 67:E867-9; discussion E869. [PMID: 20657325 DOI: 10.1227/01.neu.0000372919.96651.34] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
Abstract
OBJECTIVE Meningeal melanocytomas are low-grade primary melanocytic tumors with benign histological features and a favorable clinical prognosis. Transition from meningeal melanocytoma to primary melanoma of the central nervous system is exceptionally rare, with only 5 cases having been previously reported. Here, we discuss a case of malignant transformation of an intramedullary melanocytoma to primary melanoma and review the pertinent literature. CLINICAL PRESENTATION A 79-year-old woman presented with progressive paresis in the lower limbs followed by sphincter dysfunction. Magnetic resonance imaging scans disclosed an intramedullary lesion located at the T10-T11 level. INTERVENTION The patient underwent subtotal resection of an intermediate-grade melanocytoma. Two years later, the tumor recurred locally, and the patient underwent additional surgery to remove the intramedullary mass. The histological findings of the tumor were consistent with an intramedullary malignant melanoma. CONCLUSION The malignant transformation of melanocytic tumors of the central nervous system may occur years after surgical treatment, and its incidence remains unknown. Emphasis should be placed on the importance of careful and continued follow-up monitoring of the tumor.
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Affiliation(s)
- Paolo Perrini
- Department of Neurosurgery, University of Pisa, Pisa, Italy.
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Black brain: transformation of a melanocytoma with diffuse melanocytosis into a primary cerebral melanoma. J Neurooncol 2010; 102:323-8. [PMID: 20640479 DOI: 10.1007/s11060-010-0311-9] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2010] [Accepted: 07/08/2010] [Indexed: 10/19/2022]
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Eskandari R, Schmidt MH. Intramedullary spinal melanocytoma. Rare Tumors 2010; 2:e24. [PMID: 21139826 DOI: 10.4081/rt.2010.e24] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2009] [Revised: 03/24/2010] [Accepted: 03/25/2010] [Indexed: 02/07/2023] Open
Abstract
Meningeal melanocytoma is a benign lesion arising from leptomeningeal melanocytes that at times can mimic its malignant counterpart, melanoma. Lesions of the spine usually occur in extramedullary locations and present with spinal cord compression symptoms. Because most reported spinal cases occur in the thoracic region, these symptoms usually include lower extremity weakness or numbness. The authors present a case of primary intramedullary spinal meningeal melanocytoma presenting with bilateral lower extremity symptoms in which the patient had no known supratentorial primary lesions. Gross total surgical resection allowed for full recovery, but early recurrence of tumor was detected on close follow-up monitoring, allowing for elective local radiation without loss of neurological function. Case reports of such tumors discuss different treatment strategies, but just as important is the close follow-up monitoring in these patients even after gross total surgical resection, since these tumors can recur.
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Affiliation(s)
- Ramin Eskandari
- Department of Neurosurgery, University of Utah, Salt Lake City, Utah, USA
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