Classical Hodgkins Lymphoma (SCCC, Blood Cancer Discov 2023)

Overview

Whole-genome and whole-exome sequencing of FACS-purified Hodgkin and Reed Sternberg (HRS) cells from patients with classic Hodgkin lymphoma (cHL), built to construct the first comprehensive WGS driver and timing map of cHL PMID:36723991.

Composition

  • 25 cHL cases profiled by WGS on FACS-isolated HRS cells with matched intratumoral T cells as germline control, plus 36 additional cases profiled by WES — combined driver-gene cohort of 61 patients PMID:36723991.
  • Cancer type: classic Hodgkin lymphoma (CHL); ped/AYA (ages 7–27, n=19 WGS) and older adults (ages 55–85, n=6 WGS); 22/25 from diagnosis, 3/25 from relapse PMID:36723991.

Assays / panels (linked)

Papers using this cohort

  • PMID:36723991 — Maura et al., Molecular Evolution of Classic Hodgkin Lymphoma Revealed Through Whole-Genome Sequencing of HRS Cells. Mutational burden was benchmarked against PCAWG PMID:36723991.

Notable findings derived from this cohort

  • 26 driver genes/hotspots recovered across 61 patients; top drivers SOCS1 (62%), TNFAIP3 (36%), B2M (~33%), ITPKB (28%), GNA13 (26%); 8 genes newly described as cHL drivers PMID:36723991.
  • APOBEC mutagenesis (SBS2/SBS13) highly prevalent in HRS cells, comparable to multiple myeloma and significantly higher than in non-Hodgkin lymphoma and CLL (P < 0.00001) PMID:36723991.
  • High ploidy frequently achieved via multiple independent gains including whole-genome duplication, with RAG-motif-enriched SVs, drivers in B2M/BCL7A/GNA13/PTPN1, and AID mutagenesis timed before large chromosomal gains PMID:36723991.

Sources

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