CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.
Journal
American journal of hematology
ISSN: 1096-8652
Titre abrégé: Am J Hematol
Pays: United States
ID NLM: 7610369
Informations de publication
Date de publication:
25 Feb 2024
25 Feb 2024
Historique:
revised:
08
02
2024
received:
10
11
2023
accepted:
13
02
2024
medline:
26
2
2024
pubmed:
26
2
2024
entrez:
26
2
2024
Statut:
aheadofprint
Résumé
A low allele burden (i.e., <20%) of the CALR driver mutation is found in 10.8% of CALR-mutated MPNs, mostly in essential thrombocythemia, and correlates with a milder phenotype and a more indolent evolution compared to patients with an allele burden ≥20%.
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Institut National Du Cancer
ID : FIMBANK-BCB-2013&2022.
Informations de copyright
© 2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.
Références
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Nienhold R, Ashcroft P, Zmajkovic J, et al. MPN patients with low mutant JAK2 allele burden show late expansion restricted to erythroid and megakaryocytic lineages. Blood. 2020;136:2591-2595. doi:10.1182/blood.2019002943
El-Khoury M, Cabagnols X, Mosca M, et al. Different impact of calreticulin mutations on human hematopoiesis in myeloproliferative neoplasms. Oncogene. 2020;39:5323-5337. doi:10.1038/s41388-020-1368-3
Pietra D, Rumi E, Ferretti VV, et al. Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms. Leukemia. 2016;30:431-438. doi:10.1038/leu.2015.277
Guglielmelli P, Maccari C, Sordi B, et al. Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis. Blood Cancer J. 2023;13:21. doi:10.1038/s41408-023-00786-x
Cottin L, Riou J, Orvain C, et al. Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression. Br J Haematol. 2020;188:935-944. doi:10.1111/bjh.16276