Leiomyosarcoma (MSK, Annals of Oncology 2024)

Overview

Single-center retrospective cohort of soft tissue leiomyosarcoma (STLMS) and uterine leiomyosarcoma (ULMS) patients from MSKCC, profiled by MSK-IMPACT. Designed to develop and validate genomic risk stratification models for disease-specific survival. Data deposited in cBioPortal as lms_msk_2024. PMID:38488807

Composition

  • STLMS cohort: 195 cases (151 primary, 44 metastatic); median age 58 years; 64% female; 74% retroperitoneal/intraabdominal/pelvic. PMID:38488807
  • ULMS cohort: 238 cases (177 primary, 61 metastatic); median age 54 years. PMID:38488807
  • Longitudinal subset: 18 STLMS and 15 ULMS patients with sequential tumor sequencing. PMID:38488807
  • External validation: 317 STLMS cases from AACR GENIE consortium. PMID:38488807

Assays / panels (linked)

Papers using this cohort

  • PMID:38488807 — Developing Novel Genomic Risk Stratification Models in Soft Tissue and Uterine Leiomyosarcoma.

Notable findings derived from this cohort

  • STLMS genomic landscape: TP53 mutations (56%), RB1 mutations (26%), RB1 deletions (24%), ATRX mutations (10%), PTEN deletions (12%). PMID:38488807
  • ULMS genomic landscape: TP53 mutations (55%), RB1 deletions (39%), ATRX mutations (32%), MED12 mutations (15%). PMID:38488807
  • STLMS 3-tier genomic risk for DSS (primary, n=151): high risk (median DSS 75 months), intermediate (101 months), low risk (158 months; P=0.04). PMID:38488807
  • ULMS 3-tier genomic risk for DSS (primary, n=177): high risk (median DSS 52 months), intermediate (92 months), low risk (157 months; P=0.00012). PMID:38488807
  • On multivariate Cox regression, only genomic high-risk group remained significant for DSS in both STLMS and ULMS, outperforming traditional risk factors (tumor size, grade, necrosis). PMID:38488807

Sources

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