<i><scp>BRAF</scp></i> V600E is not a consistent feature of myopericytoma

Mito, Jeffrey K.; Jo, Vickie Y.

doi:10.1111/cup.12832

Cited by 9 publications

(3 citation statements)

References 9 publications

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“…12 However, in a subsequent study, none of the 20 MP tested showed immunopositivity for BRAF VE1 antibody (known to be highly concordant with BRAF mutation status). 13 These results suggest that BRAF V600E mutations occur at a low frequency in both GT and MP, and its relationship with the more common genetic alterations seen in these tumors remains uncertain. Our findings of negative immunostaining with VE1 antibody in all fusion-negative GT tested further support the overall low impact of this abnormality in the pathogenesis of these neoplasms.…”

Section: Discussionmentioning

confidence: 93%

A Molecular Reappraisal of Glomus Tumors and Related Pericytic Neoplasms With Emphasis on NOTCH-gene Fusions

Agaram

Zhang

Jungbluth

et al. 2020

American Journal of Surgical Pathology

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Glomus tumors (GT), together with myofibroma (MF), myopericytoma (MP) and angioleiomyoma (AL) are classified as members of the perivascular myoid family of tumors. The reported genetic abnormalities across these neoplasms is dissimilar, arguing against a pathogenetically unified family; half of the GT showing NOTCH-gene fusions and a smaller subset BRAF V600E mutations, while PDGFRB mutations are noted in a subset of MF and MP. The aim of this study was to investigate the prevalence and specificity of NOTCH gene fusions in a large group of GT and correlate with clinical features. BRAF-VE1 and PDGFRB immunoexpression was also investigated in this cohort. 93 GT and 43 other pericytic lesions (11 MP, 13 MF, 19 AL) were selected. All cases were tested by fluorescence in situ hybridization for NOTCH1-4 and MIR143 gene abnormalities and 6 cases were investigated by targeted RNA sequencing. FISH revealed NOTCH gene rearrangements in 50 (54%) GT, 2 MP (18%) and 2 AL (11%). NOTCHrearrangements were present in 34 (68%) benign and 16 (32%) malignant GT. Fusion-positive benign GT were overwhelmingly seen in males with a predilection for extremities, while the malignant GT occurred mostly in viscera. Among the fusion-negative GT, 88% were benign, 9% uncertain malignant potential and 2% malignant. Half of the fusion negative-GTs occurred in the finger/subungual region. In summary, rearrangements of NOTCH genes are seen in over half of GT, with NOTCH2-MIR143 being the most common fusion (73%), while only a small subset of AL and MP share these abnormalities. The common subungual GT subset lack NOTCH gene fusions suggesting an alternative pathogenesis. BRAF-VE1 was negative in all 37 cases studied while strong PDGFRB staining was seen in 14 (21%) cases. Additional studies are needed to investigate the genetic alterations in the fusion-negative cases.

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Section: Discussionmentioning

confidence: 93%

A Molecular Reappraisal of Glomus Tumors and Related Pericytic Neoplasms With Emphasis on NOTCH-gene Fusions

Agaram

Zhang

Jungbluth

et al. 2020

American Journal of Surgical Pathology

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“…In a study by Hung et al [ 21 ], genetic testing found that all myopericytoma cases harbored PDGFRB mutations, strongly suggesting the role of PDGFRB signaling in the pathogenesis of myopericytoma. However, due to their small sample size, these results have not been replicated in other studies[ 22 , 23 ]. The genetic drivers of myopericytoma remain poorly understood.…”

Section: Discussionmentioning

confidence: 71%

Malignant myopericytoma originating from the colon: A case report

Zhang,

Guo

et al. 2024

World J Gastrointest Surg

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BACKGROUND Myopericytoma is a benign tumor that typically occurs within subcutaneous tissue and most often involves the distal extremities, followed by the proximal extremities, neck, thoracic vertebrae and oral cavity. Complete resection is often curative. Malignant myopericytoma is extremely rare and has a poor prognosis. Here, we report for the first time a case of malignant myopericytoma originating from the colon. CASE SUMMARY A 69-year-old male was admitted to our hospital with right upper quadrant pain for five days. Imaging suggested a liver mass with hemorrhage. A malignant hepatic tumor was the initial diagnosis. Surgical resection was performed after a complete preoperative work up. Initial postoperative pathology suggested that the mass was a malignant myoblastoma unrelated to the liver. Four months after the first surgery, an enhanced computed tomography (CT) scan revealed a recurrence of the tumor. The diagnosis of malignant myopericytoma derived from the colon was confirmed on histopathological examination of the specimen from the second surgery. The patient did not return to the hospital regularly for surveillance. The first postoperative abdominal CT examination six months after the second surgery demonstrated multiple liver metastases. Survival time between the diagnosis of the tumor to death was approximately one year. CONCLUSION Malignant myopericytoma is a rare cancer. Preoperative diagnosis may be difficult. Due to a lack of treatment options, prognosis is poor.

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“…Nevertheless, this viewpoint remains a topic of debate. (32,33) A de nitive diagnosis necessitates an excisional biopsy followed by histological examination. The primary characteristic of MPC is the concentric arrangement of pericytic myoid cells around thin-walled vascular channels.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Upper Lip Myopericytoma: A Case Report and Comprehensive Review

Wei,

Liu,

et al. 2024

Preprint

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Myopericytoma, a seldom encountered spindle cell tumor of mesenchymal origin, is usually benign. It is marked by the concentric proliferation of tumor cells surrounding blood vessels within subcutaneous tissues. Its primary occurrence is observed among middle-aged adults and is typically located in the distal extremities, although cases have been documented in the proximal extremities and the head-neck region. Nevertheless, its manifestation within the oral cavity is exceedingly uncommon. So far, literature reviews have uncovered just two cases in children under the age of 10, alongside a mere five reported occurrences of myopericytoma in the lip region. In this report, we present a case involving myopericytoma located in the upper lip of a 7-year-old girl. Additionally, we furnish a comprehensive review and analysis of all documented cases, contributing to an improved comprehension of this condition.

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BRAF V600E is not a consistent feature of myopericytoma

Cited by 9 publications

References 9 publications

A Molecular Reappraisal of Glomus Tumors and Related Pericytic Neoplasms With Emphasis on NOTCH-gene Fusions

A Molecular Reappraisal of Glomus Tumors and Related Pericytic Neoplasms With Emphasis on NOTCH-gene Fusions

Malignant myopericytoma originating from the colon: A case report

Pediatric Upper Lip Myopericytoma: A Case Report and Comprehensive Review

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