The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.
EPO
Erythrocytosis
JAK2
Myeloproliferative neoplasms
SNPs
Journal
Experimental hematology & oncology
ISSN: 2162-3619
Titre abrégé: Exp Hematol Oncol
Pays: England
ID NLM: 101590676
Informations de publication
Date de publication:
28 Aug 2022
28 Aug 2022
Historique:
received:
01
06
2022
accepted:
20
08
2022
entrez:
28
8
2022
pubmed:
29
8
2022
medline:
29
8
2022
Statut:
epublish
Résumé
Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have previously demonstrated an association between erythrocytosis and the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. In the present study, we investigated genomic and clinical features of 80 erythrocytosis patients with the aim to provide useful information in clinical practice. Patients with idiopathic erythrocytosis could have a genomic germline background, eventually associated with somatic variants. Through association analysis, we show that male patients presenting with idiopathic erythrocytosis, and normal EPO levels could be the best candidates for the search for the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. Further studies are needed to confirm these findings and to depict detailed genomic and phenotypical characteristics of these patients.
Identifiants
pubmed: 36031623
doi: 10.1186/s40164-022-00301-1
pii: 10.1186/s40164-022-00301-1
pmc: PMC9420251
doi:
Types de publication
Letter
Langues
eng
Pagination
47Informations de copyright
© 2022. The Author(s).
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