Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.

Autor: Lim J; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, Australia; Haematology Directorate, SA Pathology, Adelaide, Australia. Electronic address: jonathan.lim@sa.gov.au., Ross DM; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, Australia; Haematology Directorate, SA Pathology, Adelaide, Australia; Department of Haematology and Genetic Pathology, Flinders University and Medical Centre, Adelaide, Australia; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, Australia; Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia., Brown AL; Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Scott HS; Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Hahn CN; Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Jazyk: angličtina
Zdroj: Leukemia research [Leuk Res] 2024 Nov; Vol. 146, pp. 107566. Date of Electronic Publication: 2024 Aug 25.
DOI: 10.1016/j.leukres.2024.107566
Abstrakt: Epidemiological evidence of familial predispositions to myeloid malignancies and myeloproliferative neoplasms (MPN) has long been recognised, but recent studies have added to knowledge of specific germline variants in multiple genes that contribute to the familial risk. These variants may be common risk alleles in the general population but have low penetrance and cause sporadic MPN, such as the JAK2 46/1 haplotype, the variant most strongly associated with MPN. Association studies are increasingly identifying other MPN susceptibility genes such as TERT, MECOM, and SH2B3, while some common variants in DDX41 and RUNX1 appear to lead to a spectrum of myeloid malignancies. RBBP6 and ATM variants have been identified in familial MPN clusters and very rare germline variants such as chromosome 14q duplication cause hereditary MPN with high penetrance. Rarely, there are hereditary non-malignant diseases with an MPN-like phenotype. Knowledge of those genes and germline genetic changes which lead to MPN or diseases that mimic MPN helps to improve accuracy of diagnosis, aids with counselling regarding familial risk, and may contribute to clinical decision-making. Large scale population exome and genome sequencing studies will improve our knowledge of both common and rare germline genetic contributions to MPN.
Competing Interests: Declaration of Competing Interest All authors do not have any financial or personal disclosures.
(Copyright © 2024 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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