MSK Make-An-IMPACT (MSK, Clin Cancer Res 2023)

Overview

Make-an-IMPACT is a direct-to-patient outreach program that enrolled rare-cancer patients (histiocytosis, female and male germ cell tumors, pediatric cancers) worldwide via social media and advocacy groups for free clinical tumor genomic profiling via MSK-IMPACT, returning results to patients and their local physicians PMID:36862133.

Composition

  • 333 patients consented between March 2016 and October 2020; 288 (86.4%) provided tumor tissue and 250 (86.8% of those) had DNA of sufficient quality for MSK-IMPACT sequencing; 63% from US sites, 37% from 17 countries outside the US PMID:36862133.
  • Profiled cancer types: histiocytosis (n=84; LCH, ECD), female germ cell tumor (n=54; OGCT), male germ cell tumor (n=54; MGCT), adenoid cystic carcinoma (n=19; ACYC) PMID:36862133.

Assays / panels (linked)

  • MSK-IMPACT (up to 505 genes) with select targeted RNA-seq; whole-exome recapture performed for 62 ovarian GCT tumor/normal pairs from 59 patients PMID:36862133.

Papers using this cohort

  • PMID:36862133 — Doe-Tetteh et al., Overcoming barriers to tumor genomic profiling through direct-to-patient outreach.

Notable findings derived from this cohort

  • Histiocytosis driver frequencies: BRAF 33%, MAP2K1 13%, KRAS 7%, CSF1R 2.4%; actionable fusions included MS4A6A-BRAF, DOCK8-BRAF, HLA-A-BRAF, TFG-ALK, and PRDX1-NTRK1 PMID:36862133.
  • 47/84 histiocytosis patients had potentially actionable alterations; 17/18 (94%) who received matched targeted therapy had clinical benefit with mean duration 21.7 months PMID:36862133.
  • WES of 62 female GCT pairs revealed 17% (n=10) with a near-haploid genomic profile mutually exclusive with 12p gain — a phenotype rarely seen in other cancers PMID:36862133.

Sources

This page was processed by crosslinker on 2026-04-08.