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Journal of Medical Case Reports

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Open Access 01-12-2023 | Gastrointestinal Stromal Tumor | Case report

Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report

Authors: Maryam Abdullah Al Saleem, Nida Mirzaman Khan, Tarek Mohammad ElSharkawy

Published in: Journal of Medical Case Reports | Issue 1/2023

Abstract

Background

Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney–Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1.

Case presentation

Herein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia. Fluoresce in situ hybridization analysis of platelet-derived growth factor receptor alpha revealed deletion in 42% of the tumor cells studied. Interestingly, next generation sequencing revealed platelet-derived growth factor receptor alpha exon 12 mutation (p.Y555C) and exon 14 mutation (p.N659Y).

Conclusions

In conclusion, osseous metaplasia in GIST is a very rare event and only few cases are reported in the literature. The number of reported cases is inadequate to confirm the pathogenesis and the prognosis.

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Title: Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report
Authors: Maryam Abdullah Al Saleem
Nida Mirzaman Khan
Tarek Mohammad ElSharkawy
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Gastrointestinal Stromal Tumor
Imatinib
Neurofibromatosis Type 1
Published in: Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-023-04262-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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