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

Puntos clave

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.

Resumen

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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