An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2
EPOR
P488S
JAK2
V617F
familial myeloproliferative neoplasms
germline factor
predisposition
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
revised:
17
02
2022
received:
06
01
2022
accepted:
14
03
2022
pubmed:
1
4
2022
medline:
28
6
2022
entrez:
31
3
2022
Statut:
ppublish
Résumé
Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPOR
Substances chimiques
Receptors, Erythropoietin
0
JAK2 protein, human
EC 2.7.10.2
Janus Kinase 2
EC 2.7.10.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
131-136Informations de copyright
© 2022 British Society for Haematology and John Wiley & Sons Ltd.
Références
Vainchenker W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017;129(6):667-79.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, et al. Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. Nat Commun. 2015;6:6691.
Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N, et al. Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms. Blood. 2016;128(8):1121-8.
Rumi E, Harutyunyan AS, Pietra D, Feenstra JD, Cavalloni C, Roncoroni E, et al. LNK mutations in familial myeloproliferative neoplasms. Blood. 2016;128(1):144-5.
Bao EL, Nandakumar SK, Liao X, Bick AG, Karjalainen J, Tabaka M, et al. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature. 2020;586(7831):769-75.
Pardanani A, Fridley BL, Lasho TL, Gilliland DG, Tefferi A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood. 2008;111(5):2785-9.
Sokol L, Prchal JF, D'Andrea A, Rado TA, Prchal JT. Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol. 1994;22(5):447-53.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020;586(7831):763-8.
Dupont S, Masse A, James C, Teyssandier I, Lecluse Y, Larbret F, et al. The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. Blood. 2007;110(3):1013-21.
Van Egeren D, Escabi J, Nguyen M, Liu S, Reilly CR, Patel S, et al. Reconstructing the lineage histories and differentiation trajectories of individual cancer cells in myeloproliferative neoplasms. Cell Stem Cell. 2021;28(3):514-523.e9.
Nienhold R, Ashcroft P, Zmajkovic J, Rai S, Rao TN, Drexler B, et al. MPN patients with low mutant JAK2 allele burden show late expansion restricted to erythroid and megakaryocytic lineages. Blood. 2020;136(22):2591-5.
Pasquier F, Marty C, Balligand T, Verdier F, Grosjean S, Gryshkova V, et al. New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis. Haematologica. 2018;103(4):575-86.
Gross M, Ben-Califa N, McMullin MF, Percy MJ, Bento C, Cario H, et al. Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras. Br J Haematol. 2014;165(4):519-28.
Cordua S, Kjaer L, Skov V, Pallisgaard N, Hasselbalch HC, Ellervik C. Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population. Blood. 2019;134(5):469-79.
Zhang H, Wang S, Liu D, Gao C, Han Y, Guo X, et al. EpoR-tdTomato-Cre mice enable identification of EpoR expression in subsets of tissue macrophages and hematopoietic cells. Blood. 2021;138(20):1986-97.