Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor

Ahn, Soomin; Chung, Choon Sik; Kim, Kyoung Mee

doi:10.1159/000452202

Cited by 11 publications

(5 citation statements)

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“…Histologically, PNST is composed of wavy spindle cells, fibroblasts, and strands of collagen[ 52 ]. The stroma can be myxoid and the tumor may show a plexiform multinodular growth[ 51 , 52 ] (Figure 8 ). The tumor cells are diffusely positive for S-100 and CD34 and are negative for C-KIT, DOG-1, and SMA[ 52 ].…”

Section: Differential Diagnosis: Histologic Mimicsmentioning

confidence: 99%

“…The stroma can be myxoid and the tumor may show a plexiform multinodular growth[ 51 , 52 ] (Figure 8 ). The tumor cells are diffusely positive for S-100 and CD34 and are negative for C-KIT, DOG-1, and SMA[ 52 ]. Perineurioma shows slender cells with wavy nuclei that are diffusely positive for EMA and variably positive for CD34.…”

Section: Differential Diagnosis: Histologic Mimicsmentioning

confidence: 99%

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Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Arslan

et al. 2021

WJGO

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Plexiform fibromyxoma (PF) is a very rare mesenchymal neoplasm of the stomach that was first described in 2007 and was officially recognized as a subtype of gastric mesenchymal neoplasm by World Health Organization (WHO) in 2010. Histologically, PF is characterized by a plexiform growth of bland spindle to ovoid cells embedded in a myxoid stroma that is rich in small vessels. The lesion is usually paucicellular. While mucosal and vascular invasion have been documented, no metastasis or malignant transformation has been reported. Its pathogenesis is largely unknown and defining molecular alterations are not currently available. There are other mesenchymal tumors arising in the gastrointestinal tract that need to be differentiated from PF given their differing biologic behaviors and malignant potential. Histologic mimics with spindle cells include gastrointestinal stromal tumor, smooth muscle tumor, and nerve sheath tumor. Histologic mimics with myxoid stroma include myxoma and aggressive angiomyxoma. Molecular alterations that have been described in a subset of PF may be seen in gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 ( GLI1 ) rearrangement. The recent increase in publications on PF reflects growing recognition of this entity with expansion of clinical and pathologic findings in these cases. Herein we provide a review of PF in comparison to other mesenchymal tumors with histologic and molecular resemblance to raise the awareness of this enigmatic neoplasm. Also, we highlight the challenges pathologists face when the sample is small, or such rare entity is encountered intraoperatively.

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Section: Differential Diagnosis: Histologic Mimicsmentioning

confidence: 99%

Section: Differential Diagnosis: Histologic Mimicsmentioning

confidence: 99%

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Arslan

et al. 2021

WJGO

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“…Immunohistochemistry can be helpful in cases where the typical nuclear palisading of schwannoma is not identified and only hypocellular Antoni B areas are present, causing confusion with neurofibroma. S100 positivity is typically weaker and/or more focal in neurofibroma compared to schwannoma; conversely, diffuse CD34 positivity is seen in neurofibromas but is less common in schwannoma . The diffuse CD34 positivity seen in neurofibroma may be identical to that of GIST; an awareness of neurofibromatosis in this region and use of multiple ancillary tests is invaluable to avoid misdiagnosis.…”

Section: Neurofibromamentioning

confidence: 98%

Spindle cell proliferations of the sigmoid colon, rectum and anus: a review with emphasis on perineurioma

Grech

Schofield

2020

Histopathology

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A wide range of spindle cell proliferations are found uncommonly in the sigmoid colon, rectum and anus. They usually present as polyps, and include reactive lesions and benign and malignant neoplasms which may be primary or metastatic. They are less frequently described in the literature compared to those in the upper gastrointestinal tract, and may be underdiagnosed. The widespread use of sigmoidoscopy in symptomatic patients and bowel cancer screening programmes means that histopathologists must be aware of, and adopt a logical approach to, diagnosing spindle cell proliferations in biopsy and polypectomy specimens. This is particularly relevant given the strong association of some mesenchymal polyps with hereditary cancer syndromes. This review article will focus on perineurioma and the recent debate in relation to its overlap with fibroblastic polyp. The clinical, endoscopic, histological and immunohistochemical features of spindle cell proliferations which should be considered in the differential diagnosis of perineurioma will be discussed. There is also a brief reference to malignant spindle cell tumours of diagnostic importance.

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“…Neurofibromas are the most common type of peripheral nerve sheath tumors in patients with NF1 10 . Neurofibroma is a tumor of the peripheral nervous system and occurs most commonly in the extremities 2 . They are benign nerve sheath tumors of the peripheral nervous system, consisting of a mixture of cell types including Schwann cells, perineural-like cells, mast cells, and fibroblasts 10 .…”

Section: Literature Reviewmentioning

confidence: 99%

Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

Kanno

Mattos

Campos

et al. 2022

ABCD, arq. bras. cir. dig.

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BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature. CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity (<1%). Genetic sequence panel identified an undescribed mutation in the neurofibromatosis type 1 gene (deletion, exons 2–30). The patient’s postoperative evolution was uneventful, and she remains well, without recurrence, 3 years after surgery. CONCLUSION: The co-occurrence of medullary thyroid carcinoma, plexiform neurofibromas, and neuroendocrine tumors of the rectum in patients with neurofibromatosis type 1 is an exceptional and undescribed possibility, whose diagnosis can be confirmed by the immunohistochemical staining and genetic panel.

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Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor

Cited by 11 publications

References 11 publications

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Spindle cell proliferations of the sigmoid colon, rectum and anus: a review with emphasis on perineurioma

Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

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