Extensive Degenerative Change Masquerading Histomorphology in a Giant Cystic Gastrointestinal Stromal Tumor With Rare PDGFRA Mutation

Jawaria Rahman; Syed Rahmanuddin; Sunder Sham; Snehal Sonawane

doi:10.7759/cureus.10772

Extensive Degenerative Change Masquerading Histomorphology in a Giant Cystic Gastrointestinal Stromal Tumor With Rare PDGFRA Mutation

Cureus. 2020 Oct 2;12(10):e10772. doi: 10.7759/cureus.10772.

Authors

Jawaria Rahman¹, Syed Rahmanuddin², Sunder Sham³, Snehal Sonawane⁴

Affiliations

¹ Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, USA.
² Department of Radiology, City of Hope Comprehensive Cancer Center, Duarte, USA.
³ Department of Pathology, Lenox Hill Hospital Northwell Health, New York, USA.
⁴ Department of Pathology, South Bend Medical Foundation, South Bend, USA.

Abstract

Gastrointestinal stromal tumors (GISTs) are the most frequent type of mesenchymal tumors of the gastrointestinal (GI) tract, and most of the time they acquire the mutation of special kinds of genes. GISTs may be familial or inherited and affect several family members of the family or can be sporadic. The risk of GIST is increased in people with mutations in the receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA) genes. In this report, we present a case of a large GIST with extensive cystic and degenerative change in a 76-year-old female patient with a rare Asp842-His845 deletion mutation detected in PDGFRA exon 18, that required subtotal gastrectomy with en bloc resection.

Keywords: dog-1; gastrointestinal stromal tumor; gist; mutations; pdgfra.

Publication types

Case Reports