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.
Highlights
Gastrointestinal stromal tumors (GISTs) are malignant tumors arising from special kinds of cells in the wall of the gastrointestinal (GI) tract called the interstitial cells of Cajal (ICCs) [1]
Pieces of evidence based on the sequence analysis, Asp842His845 deletion was detected on the platelet-derived growth factor receptor alpha (PDGFRA) gene exon 18, which confirmed the diagnosis of PDGFRAmutated GIST, predominantly epithelioid type with 90% necrosis
It is imperative to keep the differential diagnosis of cystic GIST in mind when we come across large cystic masses in the abdomen
Summary
Gastrointestinal stromal tumors (GISTs) are malignant tumors arising from special kinds of cells in the wall of the gastrointestinal (GI) tract called the interstitial cells of Cajal (ICCs) [1]. A 76-year-old woman admitted to the hospital with abdominal pain and bloating She was unable to tolerate any oral intake for several days and complained of a decrease in appetite, nausea, vomiting, constipation, and weight loss of 20 lb over three months. Based on the above findings, the diagnosis of GIST with epithelioid morphology was favored, and tissue was sent for KIT and PDGFRA mutational analysis. Pieces of evidence based on the sequence analysis, Asp842His845 deletion was detected on the PDGFRA gene exon 18, which confirmed the diagnosis of PDGFRAmutated GIST, predominantly epithelioid type with 90% necrosis. It was histologically low grade and had a pathological stage of pT4pN0 and was categorized as moderate risk. It supports the fact that complete surgical resection improves local recurrence rate and overall survival
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