Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation.
Journal
Blood advances
ISSN: 2473-9537
Titre abrégé: Blood Adv
Pays: United States
ID NLM: 101698425
Informations de publication
Date de publication:
13 10 2020
13 10 2020
Historique:
received:
12
05
2020
accepted:
03
09
2020
entrez:
9
10
2020
pubmed:
10
10
2020
medline:
15
5
2021
Statut:
ppublish
Résumé
Among myeloproliferative neoplasms, polycythemia vera (PV) and essential thrombocythemia (ET) are the 2 entities associated with the most chronic disease course. Leukemic evolution occurs rarely but has a grim prognosis. The interval between diagnosis and leukemic evolution is highly variable, from a few years to >20 years. We performed a molecular evaluation of 49 leukemic transformations of PV and ET by targeted next-generation sequencing. Using a hierarchical classification, we identified 3 molecular groups associated with a distinct time to leukemic transformation. Short-term transformations were mostly characterized by a complex molecular landscape and mutations in IDH1/2, RUNX1, and U2AF1 genes, whereas long-term transformations were associated with mutations in TP53, NRAS, and BCORL1 genes. Studying paired samples from chronic phase and transformation, we detected some mutations already present during the chronic phase, either with a significant allele burden (short-term transformation) or with a very low allele burden (especially TP53 mutations). However, other mutations were not detected even 1 year before leukemic transformation. Our results suggest that the leukemic transformation of PV and ET may be driven by distinct time-dependent molecular mechanisms.
Identifiants
pubmed: 33035330
pii: S2473-9529(20)31222-2
doi: 10.1182/bloodadvances.2020002271
pmc: PMC7556129
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4887-4897Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2020 by The American Society of Hematology.
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