Clinicopathological Characteristics and the First Mutational Analysis of Gastrointestinal Stromal Tumors From Mexico: A Single Institution Experience

TL;DR

This study analyzes the genetic mutations and clinical features of gastrointestinal stromal tumors in a Mexican population, focusing on KIT and PDGFRA mutations and their impact on survival.

Contribution

The paper provides the first mutational analysis of GISTs in Mexico and explores their clinicopathological characteristics.

Findings

KIT mutations were found in 71.4% of cases, mostly in exon 11.

PDGFRA mutations were observed in 7.1% of cases.

No significant association was found between specific mutations and survival outcomes.

Abstract

Background

Gastrointestinal stromal tumors (GISTs) arise from Cajal’s interstitial cell precursors and display a variety of genetic mutations, primarily in the KIT and PDGFRA genes. These mutations are linked to tumor location, prognosis, and response to treatment. This study delves into the mutational patterns of GISTs in a Mexican population and their impact on overall survival (OS) and disease-free survival (DFS).

Methodology

This retrospective study examined 42 GIST cases diagnosed at the Oncology Hospital of the National Medical Center XXI Century between January 2018 and December 2020. Clinical, histological, and immunohistochemical data were gathered, and mutational analysis of KIT and PDGFRA genes was conducted using second-generation sequencing.

Results

The study group consisted of 52.4% females and 47.6% males, with an average age of 62.6 years. The most common tumor site was the stomach (59.5%), followed by the small intestine (26.2%). KIT mutations were detected in 71.4% of cases, predominantly involving exon 11. PDGFRA mutations were observed in 7.1% of cases. Recurrence was noted in 9.5% of patients, all with high-risk tumors. No significant link was identified between specific mutations and OS or DFS.

Conclusions

This investigation sheds light on the genetic landscape of GISTs in the Mexican population. While no significant association was established between particular mutations and survival outcomes, the study emphasizes the importance of molecular profiling in treatment decision-making. Further studies with larger sample sizes and longer follow-up periods are necessary to validate these results and explore their clinical relevance.

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