What question did this study set out to answer?

This study aims to detail the molecular and clinicopathological features of GISTs over a decade at a single center.

May 29, 2026Open Access

Molecular Features of Gastrointestinal Stromal Tumors: A Single Referral Cancer Center Experience

AZAngela ZupaCentro di Riferimento Oncologico della Basilicata GVGiulia VitaCentro di Riferimento Oncologico della Basilicata ATAlfredo TartaroneCentro di Riferimento Oncologico della Basilicata

Key Points

This study aims to detail the molecular and clinicopathological features of GISTs over a decade at a single center.
Analyzed 29 GIST patients diagnosed between 2012 and 2021 at IRCCS CROB, Italy.
Conducted molecular analysis using Sanger sequencing and Next-Generation Sequencing (NGS).
Evaluated mutations in KIT and PDGFRA genes and their association with recurrence risk.
23 patients (85%) had KIT mutations, with 5 (22%) presenting the p.Ala502_Tyr503dup duplication.
18 patients (78%) exhibited mutations in exon 11, with point mutations correlating with high recurrence risk.
PDGFRA mutations were mostly seen in exon 18, with some linked to low-to-moderate recurrence risk.

Abstract

Background/Aim: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract. They frequently harbor mutations in KIT proto-oncogene, receptor tyrosine kinase (KIT) (70-80%) and platelet-derived growth factor receptor alpha (PDGFRA) (10-15%) genes, responding effectively to tyrosine kinase inhibitors (TKIs). Accurate genotyping is crucial for diagnosis and therapeutic management. This study reports a decade-long experience, detailing the epidemiological, pathological, and molecular characteristics of GISTs in a single-center cohort. Patients and Methods: Twenty-nine patients diagnosed with GIST (stomach, small bowel, colon, and peritoneum) at IRCCS CROB, Italy, between 2012 and 2021 were enrolled. Molecular analysis was performed using Sanger sequencing and Next-Generation Sequencing (NGS). Results: Twenty-three patients (85%) harbored KIT mutations, while four (15%) had PDGFRA mutations. Among KIT-mutated cases, five (22%) presented the p. Ala502Tyr503dup duplication in exon 9. Elevated Ki-67 and a mitotic index of 3-7/50 high-power field (HPF) were associated with high recurrence risk. Eighteen patients (78%) exhibited mutations in exon 11: 8 (44%) were point mutations, 5 (28%) deletions, and 5 (28%) complex deletions. Point mutations at codons 557, 560, and 603 correlated with high recurrence risk, whereas mutations at codons 559 and 599 linked to low-risk disease. Most deletions and complex deletions showed high recurrence risk and Ki-67 >10%. PDGFRA mutations were located in exon 18 (2 complex deletions, 2 point mutations including p. D842V) ; three of these cases showed low-to-moderate recurrence risk (Ki-67 ≤8%). Conclusion: This study characterizes the clinicopathological and molecular profiles of 29 Caucasian GIST patients, reinforcing the critical role of molecular stratification in clinical practice.

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