Genome-Wide Single-Nucleotide Polymorphism (SNP)-based Profiling of Loss of Heterozygosity Reveals Distinct Molecular Subgroup-Specific Patterns in Gastrointestinal Stromal Tumors (GIST).

doi:10.1016/j.labinv.2026.106148

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Genome-Wide Single-Nucleotide Polymorphism (SNP)-based Profiling of Loss of Heterozygosity Reveals Distinct Molecular Subgroup-Specific Patterns in Gastrointestinal Stromal Tumors (GIST).

Laboratory investigation; a journal of technical methods and pathology - 1 Sept 2026

Maloberti Thais, Nannini Margherita, Astolfi Annalisa, Nigro Maria Concetta, Gozzellino Livia, Costa Alice, Pirini Maria Giulia, De Leo Antonio, Grillini Marco, Vincenzi Bruno, Fumagalli Elena, Brunello Antonella, Grignani Giovanni, Aliberti Sandra, Ricci Angela Dalia, Gelsomino Fabio, Tallini Giovanni, Pantaleo Maria Abbondanza, de Biase Dario

Abstract excerpt

PURPOSE: Gastrointestinal stromal tumors (GIST) are molecularly heterogeneous neoplasms defined by mutually exclusive driver alterations (KIT, PDGFRA, SDH, BRAF, RAS, and NF1). However, driver mutations alone do not fully explain their biological and clinical variability. Chromosomal imbalances and loss of heterozygosity (LOH) may represent an additional layer of tumor characterization. We developed a...

Read the complete abstract on PubMed

Topics

Humans
Gastrointestinal Stromal Tumors
Loss of Heterozygosity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Female

High-Throughput Nucleotide Sequencing

Middle Aged

Male

Aged

Gastrointestinal Neoplasms

Adult

Genome-Wide Association Study

Aged, 80 and over

Source

Open in PubMed

Identifiers

PMID: 42336245
DOI: 10.1016/j.labinv.2026.106148

Genes

KIT
NF1
PDGFRA
BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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