Gastrointestinal Stromal Tumor Genomic Risk Stratification, MSK, Clin Cancer Res 2023

Overview

MSKCC cohort of 501 GIST patients (592 samples) diagnosed 1991–2021 profiled by MSK-IMPACT targeted sequencing. Used to build an elastic-net penalized Cox machine learning model producing a 3-tier genomic risk stratification for recurrence-free survival in primary localized gastric and small bowel GISTs in the adjuvant imatinib era PMID:37477937.

Composition

  • 501 patients / 592 samples: 275 gastric (307 samples), 194 small bowel (244 samples), 32 rectal (41 samples; excluded from modeling) PMID:37477937.
  • Modeling cohort: 152 primary localized gastric and 80 small bowel GISTs; 41% of gastric and 53% of small bowel received adjuvant imatinib PMID:37477937.
  • Cancer type: GIST.

Assays / panels (linked)

Papers using this cohort

  • PMID:37477937 — Dermawan et al., Novel Genomic Risk Stratification Model for Primary GIST in the Adjuvant Therapy Era, Clin Cancer Res 2023.

Notable findings derived from this cohort

  • Gastric GIST high-risk markers: chr1p deletion or SDHB loss; intermediate: chr14q deletion or absence of KIT exon 11 mutation PMID:37477937.
  • Small bowel GIST high-risk markers: MAX/MGA/MYC, CDKN2A, or RB1 alterations; intermediate: chr1p deletion or chr5q amplification PMID:37477937.
  • Genomic model both upgrades and downgrades patients vs Miettinen/NIH-Fletcher/Joensuu schemes, implying conventional models may mis-stratify adjuvant-era patients PMID:37477937.
  • In 26 SDH-deficient GISTs, TP53 mutations or chr1q amplification portend worse RFS/DSS PMID:37477937.

Sources

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