Paired bone marrow and peripheral blood samples demonstrate lack of widespread dissemination of some CH clones

Afaf E.G. Osman, Nuria Mencia-Trinchant, Caner Saygin, Luke Moma, Aelin Kim, Genevieve Housman, Matthew Pozsgai, Eti Sinha, Pooja Chandra, Duane C. Hassane, Andrea Sboner, Kishan Sangani, Nick DiNardi, Christopher Johnson, Sara S. Wallace, Bana Jabri, Hue Luu, Monica L. Guzman, Pinkal Desai, Lucy A. Godley

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Clonal hematopoiesis (CH) represents clonal expansion of mutated hematopoietic stem cells detectable in the peripheral blood or bone marrow through next generation sequencing. The current prevailing model posits that CH mutations detected in the peripheral blood mirror bone marrow mutations with clones widely disseminated across hematopoietic compartments. We sought to test the hypothesis that all clones are disseminated throughout hematopoietic tissues by comparing CH in hip vs peripheral blood specimens collected at the time of hip replacement surgery. Here, we show that patients with osteoarthritis have a high prevalence of CH, which involve genes encoding epigenetic modifiers and DNA damage repair pathway proteins. Importantly, we illustrate that CH, including clones with variant allele frequencies >10%, can be confined to specific bone marrowspaces andmay be eliminated through surgical excision. Future work will define whether clones with somatic mutations in particular genes or clonal fractions of certain sizes are either more likely to be localized or are slower to disseminate into the peripheral blood and other bony sites.

Original languageEnglish
Pages (from-to)1910-1914
Number of pages5
JournalBlood advances
Volume7
Issue number9
DOIs
StatePublished - 9 May 2023
Externally publishedYes

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