Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms.
Journal
Leukemia
ISSN: 1476-5551
Titre abrégé: Leukemia
Pays: England
ID NLM: 8704895
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
18
04
2022
accepted:
09
06
2022
revised:
06
06
2022
pubmed:
28
6
2022
medline:
4
8
2022
entrez:
27
6
2022
Statut:
ppublish
Résumé
Myeloperoxidase (MPO) gene alterations with variable clinical penetrance have been found in hereditary MPO deficiency, but their leukemia association in patients and carriers has not been established. Germline MPO alterations were found to be significantly enriched in myeloid neoplasms: 28 pathogenic/likely pathogenic variants were identified in 100 patients. The most common alterations were c.2031-2 A > C, R569W, M519fs* and Y173C accounting for about half of the cases. While functional experiments showed that the marrow stem cell pool of Mpo
Identifiants
pubmed: 35761024
doi: 10.1038/s41375-022-01630-0
pii: 10.1038/s41375-022-01630-0
doi:
Substances chimiques
Hydrogen Peroxide
BBX060AN9V
Peroxidase
EC 1.11.1.7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2086-2096Subventions
Organisme : NHLBI NIH HHS
ID : R35 HL135795
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL132071
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA257544
Pays : United States
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Nature Limited.
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