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Wang C, Yantiss RK, Lieberman MD, Tubito-Massarano F, Qin L, Yemelyanova A, Solomon JP, Hissong E. A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature. Int J Surg Pathol 2023; 31:1139-1145. [PMID: 36802986 DOI: 10.1177/10668969231152588] [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] [Indexed: 02/22/2023]
Abstract
Molecular alterations in PDGFRA are well-described as drivers of sporadic gastrointestinal stromal tumors (GISTs) and inflammatory fibroid polyps (IFPs). However, a small number of families with germline PDGFRA mutations in exons 12, 14, and 18 have been reported, forming the basis of an autosomal dominant inherited disorder with incomplete penetrance and variable expressivity, now referred to as PDGFRA-mutant syndrome or GIST-plus syndrome. Phenotypic manifestations of this rare syndrome include multiple gastrointestinal GISTS, IFPs, fibrous tumors, and other variable features. Herein, we report the case of a 58-year-old female who presented with a gastric GIST and numerous small intestinal IFPs, found to harbor a previously undescribed germline PDGFRA exon 15 p.G680R mutation. Somatic tumor testing was performed on the GIST, a duodenal IFP, and an ileal IFP utilizing a targeted next-generation sequencing panel, revealing additional and distinct secondary PDGFRA exon 12 somatic mutations in each of the 3 tumors. Our findings raise important considerations regarding mechanisms of tumor development in patients with underlying germline PDGFRA alterations and highlight the potential utility of expanding currently available germline and somatic testing panels to include exons outside the typical hotspot regions.
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Affiliation(s)
- Chiyun Wang
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
- Department of Pathology and Laboratory Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada
| | - Rhonda K Yantiss
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, FL, USA
| | | | | | - Lihui Qin
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
| | - Anna Yemelyanova
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
| | - James P Solomon
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
| | - Erika Hissong
- Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA
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2
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Khanduri A, Singh S, Tyagi H, Morey P, Gupta R. Ileocolic Intussusception in an Adult Due to Inflammatory Fibroid Polyp: A Case Report. Cureus 2022; 14:e31098. [DOI: 10.7759/cureus.31098] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/04/2022] [Indexed: 11/06/2022] Open
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3
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Hodan R, Charville GW, Ladabaum U. Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome. Cancer Genet 2021; 256-257:106-109. [PMID: 34107389 DOI: 10.1016/j.cancergen.2021.05.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2020] [Revised: 04/21/2021] [Accepted: 05/14/2021] [Indexed: 01/21/2023]
Abstract
A 35-year-old Filipino woman presented with epigastric pain and was found to have two large jejunal and ileal inflammatory fibroid polyps (IFPs) and dozens of subcentimeter small bowel submucosal nodules. Targeted exon sequencing of PDGFRA on the resected jejunum IFP identified a variant c.1664A>G that was subsequently confirmed in the germline. Family history was striking for three relatives with confirmed IFPs, including one with small bowel intussusception on five occasions. All relatives with IFPs were confirmed to have the same PDGFRA germline likely pathogenic variant, all were female, and all had IFPs by age 50 years that necessitated surgery. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This is the sixth reported family with a germline PDGFRA pathogenic variant and history of IFPs or gastrointestinal stromal tumor (GIST). This is the second report of the c.1664A>G likely pathogenic variant in a family that is unrelated to, and of different ethnic origin than, the first family. This second family exhibited a striking history of multiple IFPs without any reported GISTs, suggesting a possible genotype/phenotype association for this variant, and a possible female gender penetrance bias.
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Affiliation(s)
- Rachel Hodan
- Cancer Genetics and Genomics, Stanford Health Care, United States; Department of Pediatrics (Genetics), Stanford University School of Medicine, United States.
| | - Gregory W Charville
- Department of Pathology, Stanford University School of Medicine, United States
| | - Uri Ladabaum
- Cancer Genetics and Genomics, Stanford Health Care, United States; Division of Gastroenterology and Hepatology, Department of Medicine, Stanford University School of Medicine, United States
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4
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Giant Ileocecal Inflammatory Fibroid Polyp: Unique Clinical Presentation. Case Rep Surg 2020; 2020:8811404. [PMID: 32774977 PMCID: PMC7391106 DOI: 10.1155/2020/8811404] [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: 05/18/2020] [Revised: 07/12/2020] [Accepted: 07/13/2020] [Indexed: 12/03/2022] Open
Abstract
Inflammatory fibroid polyps (IFPs) are infrequent gastrointestinal tract benign neoplasms. They mostly occur in the stomach especially the antrum. Signs and symptoms depend on their anatomic location and lesion size. Lesion biopsies are very challenging for accurate diagnosis in these lesions. Histopathological examination of resected tissue along with immunohistochemical studies is the perfect way to confirm the final diagnosis. In this paper, the authors present an unusual case of IFP in a 23-year-old female patient presented to the emergency room (ER) with a picture of intestinal obstruction and severe abdominal pain. Her investigations revealed a huge mass located at the ileocecal valve, with overall features mimic gastrointestinal stromal tumor (GIST) clinical presentation. Surgical resection is considered the most commonly used treatment method. The overall prognosis is good with a low risk of recurrence.
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Wang H, Zhou T, Zhang C, Li H, Lü M. Inflammatory Fibroid Polyp: An Unusual Cause of Abdominal Pain in the Upper Gastrointestinal Tract a Case Report. Open Med (Wars) 2020; 15:225-230. [PMID: 32258417 PMCID: PMC7101478 DOI: 10.1515/med-2020-0033] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2019] [Accepted: 01/15/2020] [Indexed: 01/05/2023] Open
Abstract
Inflammatory fibroid polyps (IFPs) tend to occur in the gastrointestinal tract, and they are rare and benign neoplasms. In general, IFPs often come from epithelial tissue. The gastric antrum is the most common location. Endoscopic ultrasound (EUS) often shows a predominantly hypoechoic mass with well-defined borders originating from the submucosal area. Here, we report the case of a 46-year-old woman with abdominal pain who underwent computed tomography (CT), endoscopic ultrasound and endoscopic submucosal dissection (ESD) of resected specimens; the diagnosis was ultimately an inflammatory fibroid polyp. She is currently in clinical remission.
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Affiliation(s)
- Huan Wang
- Department of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China
| | - Tiejun Zhou
- Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China
| | - Cuiwei Zhang
- Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China
| | - Hao Li
- Department of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China
| | - Muhan Lü
- Department of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.,25 Taiping Road, Luzhou,Sichuan Province 646000, People's Repubic of China
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Analysis of clinical and pathological findings in inflammatory fibroid polyps of the gastrointestinal system: A series of 69 cases. Ann Diagn Pathol 2018; 37:47-50. [DOI: 10.1016/j.anndiagpath.2018.09.006] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/31/2018] [Revised: 09/07/2018] [Accepted: 09/11/2018] [Indexed: 11/21/2022]
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Ahtil R, Bensghir M, Meziane M, Houba A, Jaafari A, Lalaoui SJ, Haimeur C. [Rare etiology of subocclusive syndrome: inflammatory fibroid polyp of the ileum, about a clinical case]. Pan Afr Med J 2017; 26:146. [PMID: 28533869 PMCID: PMC5429441 DOI: 10.11604/pamj.2017.26.146.10775] [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: 09/19/2016] [Accepted: 02/24/2017] [Indexed: 11/20/2022] Open
Abstract
Le polype fibroïde inflammatoire (PFI) est une lésion bénigne rare, qui découle de la sous-muqueuse du tractus gastro-intestinal, apparait généralement comme une lésion bénigne solitaire, localisée rarement au niveau de l'iléon. Son origine est controversée. La présentation clinique varie selon sa localisation, l'invagination et l'obstruction constituent les symptômes révélateurs les plus fréquents quand le polype siège au niveau de l'intestin grêle. Nous rapportons le cas d'un patient âgé de 22 ans, qui présentait une douleur abdominale, des nausées et des vomissements avec des antécédents de constipation intermittente et une perte de poids dans l'année précédente. La radiologie a objectivé une invagination iléo-iléale obstruant complètement la lumière de l'iléon. La résection segmentaire du segment iléal obstrué et l'anastomose termino-terminale ont été effectuées. Le diagnostic final de PFI a été établi par l'examen histologique et immuno-histochimique.
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Affiliation(s)
- Redouane Ahtil
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Mustapha Bensghir
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Mohammed Meziane
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Abdelhafid Houba
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Abelhamid Jaafari
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Salim Jaafar Lalaoui
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
| | - Charki Haimeur
- Service d'Anesthésiologie, Hôpital Militaire Med V, Université Souissi Med V, Rabat, Maroc
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Hui YZ, Noffsinger AE, Guo QX, Yochman LK, Hurtubise P, Fenoglio-Preiser CM. Delineation of the Proliferative Component of Inflammatory Fibroid Polyps of the Intestine. Int J Surg Pathol 2016. [DOI: 10.1177/106689699500200306] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Formalin-fixed, paraffin-embedded tissues from eight intestinal inflammatory fibroid polyps were analyzed using immunohistochemistry and flow cytometry to determine their immunohistochemical properties, DNA content, and the nature of the proliferat ing cells. In all cases, stromal cells stained diffusely for vimentin and focally for actin and histiocytic markers. Cell proliferative activity was assessed by flow cytometry and proliferating cell nuclear antigen staining. The S phase fraction was significantly in creased in inflammatory fibroid polyp when compared to control normal bowel tissues (10.8% ± 8.6% vs 6.7% ± 1.6%, P < .02). S phase fraction and proliferating cell nuclear antigen correlated in the stromal cells (r = 0.78, P < .05). Our data indicate that inflammatory fibroid polyps represent reactive, benign lesions containing poly clonal cell populations with diploid DNA content, and they have increased proliferative activity compared with normal intestinal tissues. Both the stromal cells and the vascu lar cells contributed to the proliferative activity of the lesion. Int J Surg Pathol 2(3): 207-214, 1995
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Affiliation(s)
- Yun-Zhong Hui
- Department of Pathology, People's Hospital, Beijing Medical University, Beijing, China
| | - Amy E. Noffsinger
- Department of Pathology and Laboratory Medicine, University of Cincinnati Medi cal Center, Cincinnati, Ohio
| | - Qian-Xin Guo
- Department of Pathology, People's Hospital, Beijing Medical University, Beijing, China
| | - Lucy K. Yochman
- Department of Pathology and Laboratory Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio
| | - Paul Hurtubise
- Department of Pathology and Laboratory Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio
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Ricci R. Syndromic gastrointestinal stromal tumors. Hered Cancer Clin Pract 2016; 14:15. [PMID: 27437068 PMCID: PMC4950812 DOI: 10.1186/s13053-016-0055-4] [Citation(s) in RCA: 63] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2016] [Accepted: 06/09/2016] [Indexed: 12/28/2022] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract. They feature heterogeneous triggering mechanisms, implying relevant clinical differences. The vast majority of GISTs are sporadic tumors. Rarely, however, GIST-prone syndromes occur, mostly depending on heritable GIST predisposing molecular defects involving the entire organism. These conditions need to be properly identified in order to plan appropriate diagnostic, prognostic and therapeutic procedures. Clinically, GIST-prone syndromes must be thought of whenever GISTs are multiple and/or associated with accompanying signs peculiar to the background tumorigenic trigger, either in single individuals or in kindreds. Moreover, syndromic GISTs, individually considered, tend to show distinctive features depending on the underlying condition. When applicable, genotyping is usually confirmatory. In GIST-prone conditions, the prognostic features of each GIST, defined according to the criteria routinely applied to sporadic GISTs, combine with the characters proper to the background syndromes, defining peculiar clinical settings which challenge physicians to undertake complex decisions. The latter concern preventive therapy and single tumor therapy, implying possible surgical and molecularly targeted options. In the absence of specific comprehensive guidelines, this review will highlight the traits characteristic of GIST-predisposing syndromes, with particular emphasis on diagnostic, prognostic and therapeutic implications, which can help the clinical management of these rare diseases.
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Affiliation(s)
- Riccardo Ricci
- Department of Pathology, Università Cattolica del S. Cuore, Largo Agostino Gemelli, 8, I-00168 Rome, Italy
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10
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Ricci R, Martini M, Cenci T, Carbone A, Lanza P, Biondi A, Rindi G, Cassano A, Larghi A, Persiani R, Larocca LM. PDGFRA-mutant syndrome. Mod Pathol 2015; 28:954-64. [PMID: 25975287 DOI: 10.1038/modpathol.2015.56] [Citation(s) in RCA: 45] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2015] [Revised: 03/20/2015] [Accepted: 03/24/2015] [Indexed: 12/12/2022]
Abstract
Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards, however, inflammatory fibroid polyps also revealed PDGFRA mutations. Subsequently, gastrointestinal CD34+ 'fibrous tumors' of uncertain classification were described in a germline PDGFRA-mutant context. Our aim was to characterize the syndrome produced by germline PDGFRA mutations and establish diagnostic criteria and management strategies for this hitherto puzzling disease. We studied a kindred displaying multiple gastrointestinal mesenchymal tumors, comparing it with published families/individuals with possible analogous conditions. We identified a novel inherited PDGFRA mutation (P653L), constituting the third reported example of familial PDGFRA mutation. In adult mutants we detected inflammatory fibroid polyps, gastric GISTs and gastrointestinal fibrous tumors of uncertain nosology. We demonstrate that the syndrome formerly defined as INF/NF3b (exemplified by the family reported herein) is simplistically considered a form of familial GIST, because inflammatory fibroid polyps often prevail. Fibrous tumors appear variants of inflammatory fibroid polyps. 'INF/NF3b' and 'familial GIST' are misleading terms which we propose changing to 'PDGFRA-mutant syndrome'. In this condition, unlike KIT-dependent familial GIST syndromes, if present, GISTs are stomach-restricted and diffuse Cajal cell hyperplasia is not observed. This restriction of GISTs to the stomach in PDGFRA-mutant syndrome: (i) focuses oncological concern on gastric masses, as inflammatory fibroid polyps are benign; (ii) supports a selective role of gastric environment for PDGFRA mutations to elicit GISTs, justifying the known predilection for stomach of sporadic PDGFRA-mutant GISTs. An awareness that inflammatory fibroid polyps, relatively common among gastrointestinal mesenchymal tumors, may be the prevailing tumor in PDGFRA-mutant syndrome could eventually reveal an unsuspected prevalence of this condition.
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Affiliation(s)
- Riccardo Ricci
- Department of Pathology, Catholic University, Rome, Italy
| | | | - Tonia Cenci
- Department of Pathology, Catholic University, Rome, Italy
| | | | - Paola Lanza
- Department of Pathology, Catholic University, Rome, Italy
| | | | - Guido Rindi
- Department of Pathology, Catholic University, Rome, Italy
| | | | - Alberto Larghi
- Department of Digestive Endoscopy, Catholic University, Rome, Italy
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Mizutani Y, Nakamura M, Goto H. An unusual cause of obscure gastrointestinal bleeding. Gastroenterology 2015; 148:908-9. [PMID: 25824360 DOI: 10.1053/j.gastro.2014.12.048] [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: 11/15/2014] [Revised: 11/25/2014] [Accepted: 12/02/2014] [Indexed: 12/02/2022]
Affiliation(s)
- Yasuyuki Mizutani
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Masanao Nakamura
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Hidemi Goto
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
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12
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Xiang YN, Xu LB. Clinical, endoscopic and pathologic features of inflammatory fibroid polyps of the digestive system. Shijie Huaren Xiaohua Zazhi 2015; 23:1514-1520. [DOI: 10.11569/wcjd.v23.i9.1514] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
AIM: To investigate the clinical, endoscopic and pathologic features, as well as differential diagnosis of gastrointestinal inflammatory fibroid polys (IFPs).
METHODS: The clinical data for 16 cases of IFPs were analyzed. The findings of endoscopy, endoscopic ultrasound, and histopathology were reviewed. Immunohistochemistry studies for Vimentin, CD34, CD117, discovered on GIST-1 (DOG-1), smooth muscle actin (SMA), S-100, and Desmin and cytokeratin (CK) were performed.
RESULTS: IFPs were mainly found in adults aged 40-60 years (56.25%), slightly more frequently in women. IFPs occurred mainly in the stomach (56.25%), small bowel (25%), and colon (18.75%), with the antrum being the most common place. The tumor might present as a polyp, submucosal mass or neoplasm-like mass. Endoscopic ultrasound showed hypoechoic lesions in the third or the second sonographic layer of the gastric wall but without involving the fourth layer, and the margin was poorly circumscribed. Histopathology showed that the tumor was mainly located in the submucosa and could invade the mucosa, but not the muscle layer. Microscopically, the main tumor components were fibroblast-like spindle cells, vascular and polymorphic inflammatory cells, usually dominant by eosinophils. The specific pathologic findings included eosinophils and concentric fibroblast-like spindle cells with an 'onion-skin'-like appearance around vessels. Immunohistochemical staining of the spindle cells of IFPs showed 100% positivity for vimentin and 87.5% positivity for CD34. Treatments for IFPs included surgery and endoscopic submucosal dissection (ESD) or endoscopic mucosal resection (EMR).
CONCLUSION: There are similar patterns for patient age and tumor location in IFPs. Endoscopy and endoscopic ultrasound can provide specific findings. The histopathological and immunohistochemical characteristics are useful for accurately diagnosing IFPs and differential diagnosis of the tumors occurring in the submucosa.
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14
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Voltaggio L, Montgomery EA. Gastrointestinal tract spindle cell lesions--just like real estate, it's all about location. Mod Pathol 2015; 28 Suppl 1:S47-66. [PMID: 25560599 DOI: 10.1038/modpathol.2014.126] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2014] [Revised: 06/22/2014] [Accepted: 06/23/2014] [Indexed: 12/21/2022]
Abstract
Interpretation of gastrointestinal tract mesenchymal lesions is simplified merely by knowing in which anatomic layer they are usually found. For example, Kaposi sarcoma is detected on mucosal biopsies, whereas inflammatory fibroid polyp is nearly always in the submucosa. Gastrointestinal stromal tumors (GISTs) are generally centered in the muscularis propria. Schwannomas are essentially always in the muscularis propria. Mesenteric lesions are usually found in the small bowel mesentery. Knowledge of the favored layer is even most important in interpreting colon biopsies, as many mesenschymal polyps are encountered in the colon. Although GISTs are among the most common mesenchymal lesions, we will concentrate our discussion on other mesenchymal lesions, some of which are in the differential diagnosis of GIST, and point out some diagnostic pitfalls, particularly in immunolabeling.
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Affiliation(s)
- Lysandra Voltaggio
- Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA
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Albuquerque A, Rios E, Carneiro F, Macedo G. Evaluation of clinico-pathological features and Helicobacter pylori infection in gastric inflammatory fibroid polyps. Virchows Arch 2014; 465:643-647. [PMID: 25257403 DOI: 10.1007/s00428-014-1659-6] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2014] [Revised: 09/09/2014] [Accepted: 09/17/2014] [Indexed: 01/10/2023]
Abstract
Inflammatory fibroid polyps are rare mesenchymal lesions. The frequency of Helicobacter pylori infection in the gastric mucosa overlying inflammatory fibroid polyps and its relation with the histologic features of the polyps are undetermined. The clinico-pathological features of inflammatory fibroid polyps, the frequency of Helicobacter pylori infection in the overlying gastric mucosa, and its putative impact on the phenotype of the polyps were evaluated. Gastric inflammatory fibroid polyps diagnosed in our Hospital from 1998 to 2012 were reviewed and the histological. The histological sections were stained with hematoxylin and eosin and modified Giemsa for the evaluation of Helicobacter pylori infection. Inconclusive cases were further analyzed by immunohistochemistry with anti-Helicobacter pylori antibody. Diagnosis was confirmed in 54 polyps, 85 % developed in females, mean age 63 ± 11 years. Most polyps were sessile (74 %), with a mean size of 15 ± 12 mm, 96 % were located in the antrum and 85 % were removed by snare polypectomy. Helicobacter pylori infection was identified in 48 % of the polyps. Most inflammatory fibroid polyps developed in the submucosa, and mucosal extension was observed in 96 % of the cases. Chronic gastritis was observed in all cases (63 % with activity, 31 % with intestinal metaplasia, and 61 % with foveolar hyperplasia). Erosion and ulceration of the overlying gastric mucosa was observed in 48 % and 11 % of the polyps, respectively. Onion skin features were present in 52 % of the polyps and were more frequently observed in cases without evidence of Helicobacter pylori infection. Background changes in gastric mucosa were not distinctive according to Helicobacter pylori infection. Chronic atrophic gastritis with intestinal metaplasia was associated with the presence of perivascular onion skin lesions. To our knowledge, this is the second largest series of gastric inflammatory fibroid polyps. Helicobacter pylori infection was identified in about half of the cases and was associated with a lower frequency of onion skin features in the polyps.
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Affiliation(s)
- Andreia Albuquerque
- Department of Gastroenterology, Centro Hospitalar São João, 4200-319, Porto, Portugal,
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16
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Entzündung, Malignität und Immunologie gastrointestinaler Spindelzelltumoren. DER PATHOLOGE 2014; 35 Suppl 2:207-13. [DOI: 10.1007/s00292-014-1978-z] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
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17
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Voltaggio L, Montgomery E. Gastric mesenchymal lesions other than gastrointestinal stromal tumor. ACTA ACUST UNITED AC 2014. [DOI: 10.1016/j.mpdhp.2014.03.008] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
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Giant Inflammatory Fibroid Polyp of the Descending Colon Treated with Endoscopic Resection. ACG Case Rep J 2013; 1:36-9. [PMID: 26157816 PMCID: PMC4435274 DOI: 10.14309/crj.2013.14] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/01/2013] [Accepted: 09/06/2013] [Indexed: 12/23/2022] Open
Abstract
Inflammatory fibroid polyps (IFPs) of the colon are very rare, reactive, non-neoplastic polyps that may grow to large sizes but do not carry any risk of malignancy. Because of their size, IFPs are usually treated with surgery; however, size alone should not be an indication for surgery. Depending on the location and morphology of the polyp, endoscopic resection should be considered. We here describe a case of a giant IFP that was successfully removed with endoscopy without complication or recurrence.
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Inflammatory fibroid polyps of the gastrointestinal tract: spectrum of clinical, morphologic, and immunohistochemistry features. Am J Surg Pathol 2013; 37:586-92. [PMID: 23426127 DOI: 10.1097/pas.0b013e31827ae11e] [Citation(s) in RCA: 88] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Inflammatory fibroid polyps (IFPs) are rare, benign tumors that can arise throughout the gastrointestinal tract. Although the molecular pathogenesis of these lesions has been well characterized, their morphologic features often vary. We report the clinicopathologic findings of the largest series of IFPs to date. A total of 83 IFPs seen at our institution were collected between 1999 and 2012. The specimens included 64 biopsies and 19 resections. A review of the clinical features identified a modest female predominance (47 women and 36 men) with patients ranging in age from 26 to 87 years (mean, 60 y). Involved sites included the esophagus (n=2), stomach (n=31; mainly antrum), small intestines (n=17), appendix (n=1), large intestines (n=31; majority within the rectosigmoid), and anal canal (n=1). Although most patients had a nonspecific presentation, those with small intestinal lesions frequently presented with intussusception. Grossly, the tumors ranged in size from 0.2 to 4.2 cm (mean, 1.7 cm). Histologically, IFPs were centered within the submucosa in all resection specimens, but mucosal extension was found in 74 of 83 (89%) cases. The tumors varied in both cellularity and degree of vascularity. However, the characteristic feature of perivascular onion skinning was present in only 54% (45/83) of the cases. In addition, a short fascicular growth pattern was also noted in 36% (30 of 83) of cases, whereas both features were present in 14 cases (17%). Eosinophils were present in 94% (78 of 83) of cases but varied widely in number from abundant (20/hpf) to sparse (1/hpf). Interestingly, in those cases with sparse eosinophils, prominent hyalinization was also present (11 of 78, 13%). In addition, although the majority of IFPs expressed CD34, 6 of 44 (14%) were negative. No associated dysplasia or malignancy was seen. IFPs represent a diverse set of submucosal-based lesions that commonly extend into the mucosa, making them amenable to endoscopic biopsy. Although their classic histologic features of perivascular onion skinning and predominance of eosinophils are well described, they may alternatively present with a short fascicular growth pattern, a sparse number of eosinophils, and prominent hyalinization.
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Modi C, Shah A, Depasquale JR, Shah N, Spira RS. A large prolapsed inflammatory fibroid polyp of the esophagus: an unusual presentation. Gastroenterol Hepatol (N Y) 2013; 9:322-325. [PMID: 23943671 PMCID: PMC3740812] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/02/2023]
Affiliation(s)
- Chintan Modi
- Saint Michael's Medical Center and Seton Hall University School of Health and Medical Sciences, Newark, New Jersey
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Mucientes P, Mucientes F, Klaassen R. Inflammatory fibroid polyp associated with early gastric carcinoma: a case report. Ann Diagn Pathol 2012; 16:148-51. [DOI: 10.1016/j.anndiagpath.2011.01.001] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2010] [Accepted: 01/03/2011] [Indexed: 11/24/2022]
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Pavageau AH, Valo I, Lavoine É, Bourgois JL, Verrièle V. Le polype fibroïde inflammatoire : à propos de trois observations dont une localisation œsophagienne. Ann Pathol 2009; 29:499-503. [DOI: 10.1016/j.annpat.2009.10.029] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/13/2009] [Indexed: 11/29/2022]
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Gain-of-function PDGFRA mutations, earlier reported in gastrointestinal stromal tumors, are common in small intestinal inflammatory fibroid polyps. A study of 60 cases. Mod Pathol 2009; 22:1049-56. [PMID: 19448595 DOI: 10.1038/modpathol.2009.62] [Citation(s) in RCA: 53] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
Abstract
The inflammatory fibroid polyp is a rare benign lesion occurring throughout the digestive tract. It usually forms a solitary mass, characterized by a proliferation of fibrovascular tissue infiltrated by a variable number of inflammatory cells. The etiology of this lesion is unknown and conflicting histogenetic theories have been proposed. Recently, mutations in platelet-derived growth factor receptor (PDGFRA) and PDGFRA expression were reported in gastric inflammatory fibroid polyps. In this study, PDGFRA exons 12, 14, and 18 were screened for activating mutations in 60 small intestinal inflammatory fibroid polyps. In addition, the PDGFRA expression was evaluated immunohistochemically. Mutations in PDGFRA were identified in 33 of 60 (55%) cases, whereas 95% expressed PDGFRA. There were 26 deletions, three deletion-insertions, duplication, and single nucleotide substitution in exon 12, and a single nucleotide substitution and deletion in exon 18. The majority (n=23) of exon 12 deletions were 1837_1851del leading to S566_E571delinsR. However, 1835_1852delinsCGC leading to the same S566_E571delinsR, were found in two tumors. Three inflammatory fibroid polyps had 1836_1850del leading to S566_E571delinsK. A complex deletion-insertion affecting a similar region (1837_1856delinsGATTGATGATC) and leading to S566_I573delinsRIDDL was identified once. In addition, duplication and single nucleotide substitution were found 5' to the common inflammatory fibroid polyp mutational 'hot spot'. These mutations consist of 1808_1828dup leading to I557_E563dup, and 1821T>A resulting in 561V>D substitution. A 2664A>T and 2663_2674del leading to 842D>V and D842_H845del, respectively, were identified in exon 18. Similar gain-of-function PDGFRA mutations reported in gastrointestinal stromal tumors have been considered to be a driving pathogenetic force. This study showed consistent expression and common mutational activation of PDGFRA in small intestinal inflammatory fibroid polyps as in their gastric counterparts, and these lesions should be considered PDGFRA-driven benign neoplasms. We also suggest that these polyps may develop from earlier described PDGFRA-positive mesenchymal cells distributed along the villus membrane after oncogenic PDGFRA activation.
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Bhatti I, Melhado R, Leeder P, Semeraro D, Tierney G. Clinical challenges and images in GI. Image 3: Inflammatory fibroid polyp. Gastroenterology 2008; 135:1465, 1808. [PMID: 18851972 DOI: 10.1053/j.gastro.2008.10.008] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/02/2022]
Affiliation(s)
- Imran Bhatti
- Department of Surgery, Derby City General Hospital, Derby, United Kingdom
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O'Kane AM, O'Donnell ME, McCavert M, Taylor K, Lee J, Wilkinson AJ. Inflammatory fibroid polyp of the ileum causing recurrent intussusception and chronic ischaemia: a case report. CASES JOURNAL 2008; 1:244. [PMID: 18925962 PMCID: PMC2577644 DOI: 10.1186/1757-1626-1-244] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 05/22/2008] [Accepted: 10/16/2008] [Indexed: 12/23/2022]
Abstract
INTRODUCTION Inflammatory fibroid polyp is a rare condition of the gastrointestinal tract which can lead to intestinal obstruction. CASE PRESENTATION We present a case of a 65-year-old woman presenting with a 1-month history of intermittent generalised abdominal pain. Computerised tomography imaging demonstrated intussusception of the small bowel. Histology of the resected small bowel revealed an inflammatory fibroid polyp with evidence of chronic ischaemia related to repeated intussusception. This rare complication of inflammatory fibroid polyps is reviewed. CONCLUSION Although computed tomography is useful in confirming an anatomical abnormality, final diagnosis requires histopathological analysis. Operative resection of the affected segment is recommended.
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Affiliation(s)
- Anna M O'Kane
- Department of Surgery, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
| | - Mark E O'Donnell
- Department of Surgery, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
| | - Mark McCavert
- Department of Surgery, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
| | - Kirsty Taylor
- Department of Radiology, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
| | - Jack Lee
- Department of Surgery, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
| | - Alan J Wilkinson
- Department of Surgery, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
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Enríquez Sánchez S, Alonso Guillén R, Buendía Pérez EJ, Hamed-Moh M, Bumedien F. Pólipo inflamatorio de intestino delgado en un menor de 17 años con repercusión sistémica. Cir Esp 2008; 84:285-6. [DOI: 10.1016/s0009-739x(08)75925-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
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Carney JA, Stratakis CA. Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation. Am J Surg Pathol 2008; 32:1412-20. [PMID: 18670346 PMCID: PMC3139498 DOI: 10.1097/pas.0b013e31816250ce] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
Abstract
We report the case of a woman with 3 different types of gastrointestinal tumors--stromal, fibrous, and fatty--and a germline defect of the platelet-derived growth factor receptor alpha (PDGFRA) gene (V561D). The patient, now 52 years old, presented in 1977 at age 22 years with a gastric tumor and a duodenal lipoma. Subsequently, she developed obstructing small intestinal fibrous tumors that required 3 laparotomies and intestinal resections. Most recently (in 2002), more than 100 fibrous tumors were resected and also multiple small intestinal lipomas and multiple gastric KIT, PDGFRalpha, and CD34-positive stromal tumors. The nosology of the fibrous tumors was not clear. The lesions were hypocellular and featured poorly outlined spindle, stellate, and polygonal CD34 positive, and KIT- and PDGFRalpha-negative cells. They extended through the muscularis propria, expanded the subserosa, and occasionally extended into the mesentery but did not metastasize. The patient is currently asymptomatic; radiologic study in June 2007 revealed postoperative changes only. None of the patient's primary relatives have had similar tumors.
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Affiliation(s)
- J Aidan Carney
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
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Deschamps L, Bretagnol F, Couvelard A, Corcos O, Bedossa P, Panis Y. Inflammatory fibroid polyp in Crohn's disease revealed by ileoileal intussusception: case report and review of the literature. Inflamm Bowel Dis 2008; 14:1317-20. [PMID: 18357578 DOI: 10.1002/ibd.20446] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
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Sall I, Bouchentouf SM, El Kaoui H, Aitali A, Achour A, Zentar A, Sair K, Janati IM. [Intestinal intussusception on an inflammatory fibroid polyp (Vanek's tumors)]. GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE 2007; 31:978-979. [PMID: 18166889 DOI: 10.1016/s0399-8320(07)78309-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/25/2023]
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Hirasaki S, Matsubara M, Ikeda F, Taniguchi H, Suzuki S. Inflammatory fibroid polyp occurring in the transverse colon diagnosed by endoscopic biopsy. World J Gastroenterol 2007; 13:3765-6. [PMID: 17659744 PMCID: PMC4250656 DOI: 10.3748/wjg.v13.i27.3765] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
A case of an inflammatory fibroid polyp occurring in the transverse colon and diagnosed by endoscopic biopsy is reported. The patient was an 82-year-old man who visited our hospital for further evaluation of occult blood in stool. The Colonoscopy revealed a small, red, and peduncular polyp, about 6 mm in diameter, in the transverse colon. Histological examination of the biopsy specimen obtained from the polyp revealed proliferation of fibroblasts and infiltration of inflammatory cells such as plasma cells and eosinophils. This polyp was diagnosed as an inflammatory fibroid polyp, which can appear in many different locations throughout gastrointestinal tract, though still rare in the transverse colon.
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Affiliation(s)
- Shoji Hirasaki
- Second Department of Internal Medicine, Sumitomo Besshi Hospital, 3-1 Ohji-cho, Niihama 792-8543, Japan.
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Acero D, Garijo G, Hombrados M, Figa M, Adrados M, Aldeguer X, González-Huix F, Miró J, Bernadó L. [Gastrointestinal inflammatory fibroid polyps. Clinical characteristics and follow-up in a series of 26 patients]. GASTROENTEROLOGIA Y HEPATOLOGIA 2005; 28:215-20. [PMID: 15811262 DOI: 10.1157/13073089] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
INTRODUCTION Inflammatory fibroid polyp (IFP) is a protuberant lesion, located near the muscularis mucosae and composed of a proliferation of fusiform cells and conjunctive fibers surrounding capillaries and a variable inflammatory infiltrate. It is believed to be a poorly controlled inflammatory repair response. Our aim was to study the clinical, pathological and follow-up characteristics of a series of patients with IFP. PATIENTS AND METHOD We studied 26 IFPs from 25 patients (16 women and 9 men) registered between 1985 and 2001 in a specific register of 3 centers in the city of Gerona (Spain). The variables analyzed were age, sex and clinical presentation, IFP localization and size, mucosal characteristics and associated disease, as well as follow-up information. Routine statistical analyses were performed. RESULTS IFPs were antral in 16 patients, ileal in 7, jejunal in 2 and colonic in the remaining patient. Size determined whether they were symptomatic (35 +/- 13.6 mm) or asymptomatic (8.4 +/- 6.3 mm). Gastric polyps were significantly smaller than intestinal polyps. Symptomatic polyps (5 out of 16 gastric polyps and 9 out of 10 intestinal polyps) predominated in women and occurred at a significantly lower age than asymptomatic polyps (59.2 versus 74.1 years). Most gastric IFPs were associated with chronic atrophic gastritis while only one ileal polyp was associated with Meckels diverticulum. The mean length of follow-up was 60.6 months and, except in one patient who underwent incomplete resection, no recurrences of IFP were observed. CONCLUSION IFP is a heterogeneous entity, depending on age at presentation, sex, size and location in the digestive tract. IFP does not recur after resection. The association of gastric IFP and chronic atrophic gastritis could suggest a modulatory effect of the mucosa on IFP growth.
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Affiliation(s)
- D Acero
- Unidad de Aparato Digestivo, Hospital Universitario Doctor Josep Trueta, Girona, Spain.
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Bayle S, Rossi P, Bagneres D, Demoux AL, Ashero A, Dales JP, Vitton V, Frances Y, Granel B. [Ileum inflammatory fibroid polyp revealed by intussusception. About one familial case]. Rev Med Interne 2004; 26:233-7. [PMID: 15777585 DOI: 10.1016/j.revmed.2004.10.030] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2004] [Accepted: 10/21/2004] [Indexed: 12/16/2022]
Abstract
INTRODUCTION Acute ileum intussusception is a frequent and mostly benign condition in childhood. Conversely, it is a rare condition during adulthood and generally associated with an underlying malignancy. We report a familial form of benign inflammatory fibroid polyps, revealed by an acute ileum intussusception. EXEGESIS A 41-year-old man, whose mother had undergone three surgical procedures for acute ileum intussusception associated with inflammatory fibroid polyp, was admitted for a abdominal pain that started three month ago. The patient displayed alteration of the intestinal transit, weight loss and sub-occlusive syndrome. Upper and lower endoscopies, performed before admission, were normal. In the emergency room, the abdominal computed tomography-scan revealed an acute intussusception of the last loop of the small intestine, probably caused by a tumor and leading to an occlusive syndrome. Surgical resection and histological analysis concluded to an inflammatory fibroid polyp. Clinical outcome was excellent. CONCLUSION Inflammatory fibroid polyp is always a benign tumor. It is usually isolated, expressing itself mainly in the form of an acute intussusception when located in the small bowel. The familial form presented here is exceptional and illustrates the possibility of an inherited transmission of this disease. However the pathogenesis of this type of polyp is still unclear.
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Affiliation(s)
- S Bayle
- Service de médecine interne, hôpital Nord, chemin des Bourrelly, 13326 Marseille cedex 20, France
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Santos GDC, Alves VAF, Wakamatsu A, Zucoloto S. Inflammatory fibroid polyp: an immunohistochemical study. ARQUIVOS DE GASTROENTEROLOGIA 2004; 41:104-7. [PMID: 15543383 DOI: 10.1590/s0004-28032004000200007] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
BACKGROUND Inflammatory fibroid polyp is a localized lesion, which arises in the submucosa of the gastrointestinal tract, most often in the stomach. Although it is generally believed to represent a reactive, nonneoplastic condition, its histogenesis remains controversial. AIM To study inflammatory fibroid polyp by immunohistochemistry in an attempt to further clarify their histogenesis. MATERIAL AND METHODS Nine cases were studied by immunohistochemistry using a panel of antibodies against smooth-muscle actin, vimentin, S-100 protein, factor VIII- R.Ag and macrophage (HAM-56). RESULTS There was a strong diffuse positive staining pattern in the spindle cells with vimentin antibody. A patchy staining for smooth-muscle actin was observed in these cells. Immunophenotyping revealed a heterogeneous reaction with HAM-56. In edematous areas, HAM-56-positive cells show voluminous cytoplasm and reniform nuclei. In cell-rich areas, the HAM-56-positive cells had fusiform cytoplasm. Stains for S-100 and factor VIII RAg were negative in the proliferating elements. CONCLUSIONS The present immunohistochemical study refutes the suggested neural or vascular nature of the lesion. The strong positivity for vimentin in all cases suggests a major component of spindle cells best recognizable as fibroblasts. These results would favor the existence of a span of morphological and immunohistochemical patterns possibly indicating evolutive phases of an inflammatory reaction.
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Affiliation(s)
- Gilda da Cunha Santos
- Department of Pathology, School of Medicine, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
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Daum O, Hes O, Vanecek T, Benes Z, Sima R, Zamecnik M, Mukensnabl P, Hadravska S, Curik R, Michal M. Vanek's tumor (inflammatory fibroid polyp). Report of 18 cases and comparison with three cases of original Vanek's series. Ann Diagn Pathol 2004; 7:337-47. [PMID: 15018116 DOI: 10.1016/j.anndiagpath.2003.09.003] [Citation(s) in RCA: 50] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/03/2023]
Abstract
Eighteen cases of Vanek's tumors are presented. The patients included nine men and nine women between the ages of 45 and 93 years (mean, 66.2 years). Nine cases were clinically diagnosed as polyps of the gastric antrum, five cases as polyps of the stomach (not otherwise specified), one polyp was located in the ileum and the three remaining polyps in the small intestine (not otherwise specified). The thirteen polyps with available size information measured from 0.4 to 5 cm in the greatest diameter (mean, 2.2 cm). Immunohistochemically, the affections were positive for vimentin (18/18) and CD34 (15/18). All the cases negative for CD34 also lacked concentric onion skin-like formations of the spindle cells around glands and vessels. The different immunophenotype and absence of concentric formations could be explained by the existence of two different lesions commonly designated as Vanek's tumor (inflammatory fibroid polyp) or by the hypothesis of various evolutional stages. In the differential diagnosis, it is important to distinguish namely eosinophilic gastroenteritis, gastrointestinal stromal tumor, inflammatory pseudotumor, hemangioendothelioma, and hemangiopericytoma. In contrast to gastrointestinal stromal tumors, genetically no substitution, deletion, or insertion occurred in c-kit exon 11 in all analyzed samples. Likewise, no deletion or insertion in part of c-kit exon 9 was observed.
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Affiliation(s)
- Ondrej Daum
- Department of Pathology, Medical Faculty Hospital, Plzen, Czech Republic
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Ozolek JA, Sasatomi E, Swalsky PA, Rao U, Krasinskas A, Finkelstein SD. Inflammatory Fibroid Polyps of the Gastrointestinal Tract. Appl Immunohistochem Mol Morphol 2004; 12:59-66. [PMID: 15163021 DOI: 10.1097/00129039-200403000-00011] [Citation(s) in RCA: 39] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
Inflammatory fibroid polyp (IFP) of the gastrointestinal tract is an uncommon proliferative lesion. When sampled by biopsy, IFP can be mistaken for various lesions, from granulation tissue to high-grade sarcoma. We present an unusual case of IFP and review a large series of IFPs to characterize clinical, histologic, and molecular features of diagnostic value. A total of 42 IFPs were gathered from the pathology archives of the University of Pittsburgh Medical Center over the past 22 years. Clinical, histopathologic, and immunohistochemical features were collected. A random subset of IFPs (n = 12) underwent microdissection genotyping for a broad panel of tumor suppressor gene-associated mutations (loss of heterozygosity). IFPs occurred in both sexes (male, 17; female, 25) over a broad age range (29-85 years). IFPs varied in size from 0.2 to 8 cm. The stomach (n = 19) was the most common location, followed by large bowel (n = 13) and small bowel (n = 10). Most IFPs displayed typical morphologic features (eosinophils admixed with loose, mature fibrous tissue), and in 2 instances, sampled by biopsy, IFP was confused for sarcoma. All IFPs lacked c-kit staining. No mutations were identified in any IFPs examined. IFP is a clinically underrecognized entity with unique morphologic and immunohistochemical features. On biopsy alone, the differential diagnosis may include sarcoma and other malignancies. The absence of mutational change may help to exclude malignant lesions.
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Affiliation(s)
- John A Ozolek
- Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
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Pantanowitz L, Antonioli DA, Pinkus GS, Shahsafaei A, Odze RD. Inflammatory fibroid polyps of the gastrointestinal tract: evidence for a dendritic cell origin. Am J Surg Pathol 2004; 28:107-14. [PMID: 14707872 DOI: 10.1097/00000478-200401000-00013] [Citation(s) in RCA: 71] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
Abstract
Inflammatory fibroid polyps (IFPs) are rare mesenchymal tumors of the gastrointestinal tract that consist of spindle-shaped stromal cells and an inflammatory infiltrate rich in eosinophils. Their etiology and histogenesis remain unknown. Based on previous reports of their immunoreactivity for CD34 and c-kit biomarkers, IFPs have been thought to be related to gastrointestinal stromal tumors (GISTs). After reviewing the current literature and examining IFPs at the light microscopic level, we evaluated a series of IFPs using an extensive panel of immunohistochemical and in situ hybridization markers in an effort to gain insight into their etiology and histogenesis and to determine their true relationship to GISTs. Sixteen routinely processed IFP specimens (14 gastric, 1 ileal, and 1 rectal) were immunohistochemically stained for antibodies to CD34, HMB-45, desmin, smooth muscle actin, calponin, h-caldesmon, anaplastic lymphoma kinase, S-100 protein, epithelial membrane antigen, c-kit (CD117), stem cell factor (SCF/N19 or kit ligand), p53, bcl-2, cyclin D1, and human herpesvirus-8 (HHV8). In situ hybridization for Epstein-Barr virus-encoded RNA (EBER) was also performed. Ten cases were further evaluated for the dendritic cell markers fascin, CD21, CD23, and CD35. Stromal cells were diffusely positive for CD34 and fascin in all (100%) cases, and these stromal cells were, in addition, immunoreactive for calponin and smooth muscle actin in 88% and 25% of cases, respectively. CD35 was also found to be focally reactive in the stromal cells. Cyclin-D1 was overexpressed in all (100%) IFPs. All other immunohistochemical markers and EBER were negative in the stromal cells. These findings suggest that the proliferating stromal cells in IFPs are of dendritic cell origin, with some cases also exhibiting myofibroblastic features. Absence of c-kit, SCF, and h-caldesmon immunoreactivity fails to support a relationship to GISTs. We also conclude that Epstein Barr virus and HHV8 are unlikely etiologic agents of IFPs. Overexpression of cyclin D1 in all cases suggests that a defect in cell-cycle regulation may be involved in the growth of IFPs.
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Affiliation(s)
- Liron Pantanowitz
- Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA
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Lowichik A, Jackson WD, Coffin CM. Gastrointestinal polyposis in childhood: clinicopathologic and genetic features. Pediatr Dev Pathol 2003; 6:371-91. [PMID: 14708731 DOI: 10.1007/s10024-002-0701-x] [Citation(s) in RCA: 20] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Abstract
Gastrointestinal polyps and certain extraintestinal lesions in children may herald a hereditary polyposis syndrome, with an increased risk of neoplasia and other health problems for both children and their relatives. The availability of molecular/genetic screening tests has increased early diagnosis of younger members of known polyposis families. This article reviews the gross and microscopic features of polyposis syndromes of childhood and summarizes the molecular/genetic advances in this field. Clinical management is also briefly discussed.
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Affiliation(s)
- Amy Lowichik
- Department of Pathology, University of Utah Health Sciences Center, 30 N. 1900 E, Salt Lake City, UT 84132-2501, USA.
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de la Plaza R, Picardo AL, Cuberes R, Jara A, Martínez-Peñalver I, Villanueva MC, Medina M, Alías D, Osorio S, Pacheco E, Suárez A. Inflammatory fibroid polyps of the large intestine. Dig Dis Sci 1999; 44:1810-1816. [PMID: 10505719 DOI: 10.1023/a:1018886421409] [Citation(s) in RCA: 30] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Affiliation(s)
- R de la Plaza
- General and Digestive Surgery, Pathology, and Family Medicine, Hospital de Móstoles, Madrid, Spain
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Abstract
Colon polyps may be single or multiple, noninherited or inherited, histologically may vary from inflammatory, hamartomatous, neurogenic, or adenomatous, and may be benign or malignant. The various recognized syndromes are discussed including their clinical presentation, malignant potential, and associated tumors. Recognition of these clinical syndromes will allow the clinician to categorize the patient and the relative risk. The discussion goes into the genetic studies identifying the adenomatous polyposis coli gene on chromosome 5 q21 and the identification of mutations arising in the DNA repair genes (MSA2, MLH1, PMSI, and M52) in the HNPCC syndrome. This identified two divergent pathologies, both involving "multiple hits" with mucosal cells going from normal to adenoma-dysplasia-carcinoma. The understanding of the multiple hit concept with the adenoma-dysplasia-carcinoma progression will aid in the further understanding of the broad neoplastic process.
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Affiliation(s)
- A L Watne
- Harris Cancer Center, Atlanta, GA 30312, USA
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Bosch O, González Campos C, Jurado A, Guijo I, Miro C, Renedo G, Porres JC. Esophageal inflammatory fibroid polyp. Endoscopic and radiologic features. Dig Dis Sci 1994; 39:2561-6. [PMID: 7995180 DOI: 10.1007/bf02087691] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
We present the case of a 60-year-old male patient, who had several episodes of melena during the last years. One month ago he had a new episode of digestive bleeding, and an endoscopic study was performed that showed at 35 cm from the dental arcade a polypoid, pedunculated lesion, with a diameter of 5 cm and a submucosal aspect, a few erosions on its surface and a fibrin deposit. Its head reached the cardia, and it bled when touched by the endoscope. The biopsies taken were negative. X-ray and CT studies confirmed the existence of a mass compatible with a submucosal lesion. The patient was operated and the tumor was excised. The histologic study showed an inflammatory fibroid polyp, an entity very rarely described at the level of the stomach, duodenum, small intestine, and colon and exceptionally described at the esophageal level.
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Affiliation(s)
- O Bosch
- Department of Gastroenterology, Universidad Autónoma de Madrid, Spain
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Allibone RO, Nanson JK, Anthony PP. Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. Gut 1992; 33:1004-5. [PMID: 1644320 PMCID: PMC1379423 DOI: 10.1136/gut.33.7.1004] [Citation(s) in RCA: 40] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/28/2022]
Abstract
Inflammatory fibroid polyps are uncommon but well documented as solitary polyps occurring typically in the stomach or ileum. A Devon family has previously been reported in which a female in three successive generations has presented with multiple polyps requiring repeated surgery over a number of years. A further two female family members, both siblings from the 3rd generation, who required surgery for the same condition are now reported.
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Affiliation(s)
- R O Allibone
- Department of Pathology, Royal Devon and Exeter Hospital
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Shepherd NA, Bussey HJ. Polyposis syndromes--an update. CURRENT TOPICS IN PATHOLOGY. ERGEBNISSE DER PATHOLOGIE 1990; 81:323-51. [PMID: 2155087 DOI: 10.1007/978-3-642-74662-8_15] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
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