Journal
BLOOD ADVANCES
Volume 4, Issue 15, Pages 3550-3557Publisher
ELSEVIER
DOI: 10.1182/bloodadvances.2020001582
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Funding
- French National Cancer Institute (INCA)
- French Ministry of Solidarity and Health
- INSERM [plancancer-THE 201606, INCA-DGOS-Inserm_12560, INCA-DGOS 2017-1-RT-03]
- La Ligue Nationale Contre le Cancer
- CANCEN
- Les Sapins de l'Espoir Contre le Cancer
- Club of Blois of International Rotary
- Societes d'Acceleration du Transfert de Technologie Grand Centre
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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 sequencingmethods vary and because most studieswere 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 3109/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.
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