Advances in germline predisposition to acute leukaemias and myeloid neoplasms.
Advances in germline predisposition to acute leukaemias and myeloid neoplasms.
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DOI：
10.1038/s41568-020-00315-z
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Mullighan CG
中科院分区：
文献类型：
--
作者：
Klco JM;Mullighan CG
虽然许多工作集中在阐明驱动急性白血病和其他造血系统疾病发展的体细胞改变，但人们越来越认识到，生殖细胞突变在许多这些肿瘤中很常见。在这篇综述中，我们将强调不同的遗传途径的影响，生殖细胞突变，最终可能导致发展的家族性和散发性血液恶性肿瘤，包括急性淋巴细胞白血病（ALL），急性髓细胞白血病（AML）和骨髓增生异常综合征（MDS）。这些疾病中被体细胞突变破坏的许多基因（例如TP53、RUNX1、IKZF 1和ETV6）与发生这些恶性肿瘤的儿童和青少年中携带生殖系突变的基因相同。此外，家族性白血病仅存在于儿童期的假设不再正确，这在很大程度上是由于许多研究表明MDS和AML成人中的种系DDX41突变。最后，我们将强调如何不同的合作事件可以影响这些不同的家族性白血病综合征的最终表型。本综述强调了不同的遗传途径影响的生殖细胞突变，可导致家族性和散发性血液恶性肿瘤的发展，特别是在急性淋巴细胞白血病，急性髓细胞白血病和骨髓增生异常综合征的最新进展。
While much work has focused on the elucidation of somatic alterations that drive the development of acute leukemias and other hematopoietic diseases, it has become increasingly recognized that germline mutations are common in many of these neoplasms. In this review, we will highlight the different genetic pathways impacted by germline mutations that can ultimately lead to the development of familial and sporadic hematological malignancies, including acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML) and myelodysplastic syndromes (MDSs). Many of the genes disrupted by somatic mutations in these diseases (e.g. TP53, RUNX1, IKZF1, and ETV6) are the same as those which harbor germline mutations in children and adolescents who develop these malignancies. Moreover, the presumption that familial leukemias 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 will highlight how different cooperating events can influence the ultimate phenotype in these different familial leukemia syndromes. This Review highlights the different genetic pathways impacted by germline mutations that can lead to the development of familial and sporadic hematological malignancies, with a particular focus on recent advances in acute lymphoblastic leukemia, acute myeloid leukemia and myelodysplastic syndromes.
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影响因子：
15.9
作者：
Bluteau, Dominique;Balduini, Alessandra;Raslova, Hana
通讯作者：
Raslova, Hana
DOI：
10.3324/haematol.2011.054361
发表时间：
2012-06-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
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作者：
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通讯作者：
Owen, Carolyn
DOI：
10.1172/jci91913
发表时间：
2017-05-01
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Buonocore F;Kühnen P;Suntharalingham JP;Del Valle I;Digweed M;Stachelscheid H;Khajavi N;Didi M;Brady AF;Blankenstein O;Procter AM;Dimitri P;Wales JKH;Ghirri P;Knöbl D;Strahm B;Erlacher M;Wlodarski MW;Chen W;Kokai GK;Anderson G;Morrogh D;Moulding DA;McKee SA;Niemeyer CM;Grüters A;Achermann JC
通讯作者：
Achermann JC
影响因子：
20.3
作者：
Bousquet, Marina;Broccardo, Cyril;Brousset, Pierre
通讯作者：
Brousset, Pierre
DOI：
10.1073/pnas.0803494105
发表时间：
2008-11-04
影响因子：
11.1
作者：
An, Qian;Wright, Sarah L.;Strefford, Jon C.
通讯作者：
Strefford, Jon C.