Ashwin Kishtagari: CHIP mutation zygosity and risk to hematologic malignancies
Ashwin Kishtagari, Assistant Professor at Vanderbilt-Ingram Cancer Center, shared a post on X/Twitter:
“Happy to share the first publication of 2024 from BickLab, exploring the role of CHIP mutation zygosity in predicting clonal hematopoiesis transformation risk to hematologic malignancies published now in Blood Cancer Journal
We hypothesized that the co-occurrence of CHIP and mCAs at the same locus (transforming a heterozygous mutation into a homozygous mutation) might have important prognostic implications for Clonal Hematopoesis malignancy transformation risk.
We We tested this hypothesis using our discovery cohort UK Biobank (n=451,180) and subsequently validated it in the BioVU cohort (n=91,335)
We find that individuals with a concurrent CHIP and mCA were at significantly of hematologic malignancy
for example co-occurring JAK2 V617F & 9p CN-LOH (HR= 54.76 ) vs JAK2 V617F alone( HR= 44.05)
Currently, the ‘zygosity’ of the CHIP mutation is not routinely reported in clinical assays or considered in prognosticating CHIP transformation risk. We propose that future prognostication systems should consider CHIP mutation ‘zygosity’.
Thank you for the incredible mentorship from Alex Bick and Dr. Savona! I’m motivated by their relentless pursuit of key discoveries. Here’s to more discoveries! Thanks to all the collaborators”
Source: Ashwin Kishtagari/X