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

TitlePaired bone marrow and peripheral blood samples demonstrate lack of widespread dissemination of some CH clones.
Publication TypeJournal Article
Year of Publication2023
AuthorsOsman AEG, Mencia-Trinchant N, Saygin C, Moma L, Kim A, Housman G, Pozsgai M, Sinha E, Chandra P, Hassane DC, Sboner A, Sangani K, DiNardi N, Johnson C, Wallace SS, Jabri B, Luu H, Guzman ML, Desai P, Godley LA
JournalBlood Adv
Date Published2023 May 09
KeywordsBone Marrow, Clonal Hematopoiesis, Clone Cells, Hematopoiesis, Hematopoietic Stem Cells, Humans

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 marrow spaces and may 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.

Alternate JournalBlood Adv
PubMed ID36453641
PubMed Central IDPMC10172868
Grant ListT32 GM007281 / GM / NIGMS NIH HHS / United States
R01 CA248747 / CA / NCI NIH HHS / United States
R21 AG066552 / AG / NIA NIH HHS / United States
Related Faculty: 
Andrea Sboner, Ph.D.

Pathology & Laboratory Medicine 1300 York Avenue New York, NY 10065 Phone: (212) 746-6464
Surgical Pathology: (212) 746-2700