Appendiceal Cancer (MSK, J Clin Oncol 2022)

Overview

Retrospective MSK cohort of patients with appendiceal adenocarcinoma (AC) sequenced on MSK-IMPACT between April 2015 and October 2020, released as the cBioPortal study appendiceal_msk_2022 PMID:36493333.

Composition

  • Appendiceal adenocarcinoma (APAD); molecular-subtype analysis focused on 164 mucinous appendiceal adenocarcinoma (MAAP) tumors, extended to goblet cell (GCA) and colonic-type (CTAAP) appendiceal adenocarcinomas PMID:36493333.

Assays / panels (linked)

Papers using this cohort

  • PMID:36493333 — Foote et al., Molecular Classification of Appendiceal Adenocarcinoma.

Notable findings derived from this cohort

  • Three MAAP molecular subtypes defined by co-occurring mutations in GNAS, KRAS/NRAS, and TP53: a RAS-mut predominant indolent subtype, a GNAS-mut predominant chemo-resistant subtype, and a TP53-mut predominant highly aneuploid aggressive subtype PMID:36493333.
  • OS was significantly better in RAS-mut predominant patients than GNAS-mut (P=.05) or TP53-mut (P=.004) subtypes; first-line chemotherapy response was 50% in RAS-mut vs 6% in GNAS-mut predominant MAAP (P=.03) PMID:36493333.
  • Tumor aneuploidy was independently associated with poor prognosis (P=.001) in multivariable models adjusting for histology, grade, age, CRS number, and first-line chemotherapy PMID:36493333.

Sources

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