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Updated: Jul 8, 2025
Laparoscopy-endoscopy Cooperative Surgery for the Treatment of Gastric Gastrointestinal Stromal Tumors
Published on: February 19, 2022
Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report
Maryam Abdullah Al Saleem1, Nida Mirzaman Khan2, Tarek Mohammad ElSharkawy2
1Department of Pathology, King Fahd Hospital of University, College of Medicine, Imam Abdulrahman Bin Faisal University, Khobar, Saudi Arabia. masaleem@iau.edu.sa.
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.
