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High prevalence of clonal hematopoiesis in the blood and bone marrow of healthy volunteers

Authors :
Guermouche, Hélène
Ravalet, Noémie
Gallay, Nathalie
Deswarte, Caroline
Foucault, Amelie
Beaud, Jenny
Rault, Emmanuelle
Saindoy, Emeline
Lachot, Sébastien
Martignoles, Jean-Alain
Gissot, Valérie
Suner, Ludovic
Gyan, Emmanuel
Delhommeau, François
Herault, Olivier
Hirsch, Pierre
Source :
Blood Advances; August 2020, Vol. 4 Issue: 15 p3550-3557, 8p
Publication Year :
2020

Abstract

Clonal hematopoiesis (CH) of indeterminate potential has been described in blood samples from large series of patients. Its prevalence and consequences are still not well understood because sequencing methods vary and because most studies were performed in cohorts comprising individuals with nonhematologic diseases. Here, we investigated the frequency of CH in 82 paired bone marrow and blood samples from carefully selected healthy adult volunteers. Forty-one genes known to be mutated in myeloid malignancies were sequenced with a 1% threshold of detection. In bone marrow samples, clones were found in almost 40% of healthy volunteers more than 50 years old. The most frequent mutations were found in DNMT3A and TET2, with 1 individual carrying 3 variants. Variant allele frequencies were highly concordant between blood and bone marrow samples. Blood parameters were normal except for those in 2 individuals: 1 had a mild macrocytosis and 1 had a mild thrombocytosis. Furthermore, no morphologic abnormalities or dysplasia were detected when bone marrow smears were carefully evaluated. Individuals with CH differed from others by age (62.8 vs 38.6 years; P < .0001) and platelet count (294 vs 241 ×109/L; P = .0208), the latter being no more significant when removing the 2 individuals who carried the JAK2 p.V617F mutation. These results confirm that CH is a very common condition in healthy adults over 50 years old. Consequently, the detection of driver myeloid mutations should be interpreted with caution in the absence of cytologic abnormalities in the blood and/or the bone marrow.

Details

Language :
English
ISSN :
24739529 and 24739537
Volume :
4
Issue :
15
Database :
Supplemental Index
Journal :
Blood Advances
Publication Type :
Periodical
Accession number :
ejs53968105
Full Text :
https://doi.org/10.1182/bloodadvances.2020001582