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Type: Journal article
Title: Advances in germline predisposition to acute leukaemias and myeloid neoplasms
Author: Klco, J.M.
Mullighan, C.G.
Citation: Nature Reviews Cancer, 2021; 21(2):122-137
Publisher: Springer Nature
Issue Date: 2021
ISSN: 1474-175X
Statement of
Jeffery M. Klco and Charles G. Mullighan
Abstract: Although much work has focused on the elucidation of somatic alterations that drive the development of acute leukaemias and other haematopoietic diseases, it has become increasingly recognized that germline mutations are common in many of these neoplasms. In this Review, we highlight the different genetic pathways impacted by germline mutations that can ultimately lead to the development of familial and sporadic haematological malignancies, including acute lymphoblastic leukaemia, acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Many of the genes disrupted by somatic mutations in these diseases (for example, TP53, RUNX1, IKZF1 and ETV6) are the same as those that harbour germline mutations in children and adolescents who develop these malignancies. Moreover, the presumption that familial leukaemias only present in childhood is no longer true, in large part due to the numerous studies demonstrating germline DDX41 mutations in adults with MDS and AML. Lastly, we highlight how different cooperating events can influence the ultimate phenotype in these different familial leukaemia syndromes.
Keywords: Humans
Myelodysplastic Syndromes
Disease Progression
Genetic Predisposition to Disease
Germ-Line Mutation
Leukemia, Myeloid, Acute
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Description: Published online 16 December 2020
Rights: © Springer Nature Limited 2020
DOI: 10.1038/s41568-020-00315-z
Appears in Collections:Medicine publications

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