On Monday 3rd April during this year’s American Association for Cancer Research (AACR) annual meeting, a poster (2448 / 5) by Felicia Gomez, from Washington University, St. Louis, MO, et al. titled “Deep exome sequencing reveals recurrent somatic mutations in Hodgkin's Lymphoma” was presented.
The group hypothesized that recurrent somatic mutations can be recognized in Hodgkin Reed-Sternberg (HRS) cells, taken from biopsies of bulk Hodgkin Lymphoma (HL), using ultra-deep exome sequencing.
- In total, using 63 samples from 31 patients, 7.04x1012 bases were sequenced; 1.10x1011 average bases per sample
- Mean depth of coverage achieved in both tumor and normal samples is >1,000x; tumor coverage range = 50–17,498; normal coverage range = 50–22,837
- Mutations identified in 31/32 patients
- The most currently mutated genes = SOCS1 (11 mutations), and TNFAIP3 and IGLL5 (7 mutations each)
- Mutations in TNFAIP3 were frameshift deletions, nonsense, and splice site mutations (all potentially truncating)
- Identified other mutations known to be mutated in cHL = B2M, STAT6, ITPK, GNA13, BCL7A, and CREBBP
The poster concluded by stating that recurrent mutations in cHL can be identified using ultra-deep sequencing of bulk tumor tissue. The group identified previously unreported mutations which require validation, as well as known mutations. This data improves our understanding of the pathogenesis of cHL.