New progress in the study of germline susceptibility genes of myeloid neoplasms.
New progress in the study of germline susceptibility genes of myeloid neoplasms.
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髓系肿瘤种系易感基因研究新进展（综述）
DOI：
10.3892/ol.2021.12578
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发表时间：
2021-04
期刊：
影响因子：
2.9
通讯作者：
Chen X
中科院分区：
文献类型：
--
作者：
Bi L;Ma T;Li X;Wei L;Liu Z;Feng B;Dong B;Chen X
2016年，世界卫生组织将“具有种系倾向的骨髓肿瘤”纳入其造血和淋巴组织肿瘤分类，揭示了种系突变在某些骨髓肿瘤中的重要作用，特别是骨髓增生异常综合征和急性髓性白血病。生殖系易感性的认识已经增加，一些骨髓肿瘤患者存在预先存在的疾病或器官功能障碍。在这种情况下，已经认识到包括CCAAT增强子结合蛋白α（CEBPA）、DEAD（Asp-Glu-Ala-Asp）盒多肽41（DDX 41）、RUNX家族转录因子1（RUNX 1）、加塔结合蛋白2（GATA 2）、Janus激酶2（JAK 2）和ETS变体转录因子6（ETV 6）的基因中的突变。此外，随着先进技术的应用和更多病例的报道，与髓系肿瘤相关的其他生殖系突变已被确定，并为髓系肿瘤的形成，预后和治疗提供了见解。本文就CEBPA、DDX 41、RUNX 1、GATA 2、JAK 2和ETV 6等已知的种系突变，以及淋巴细胞衔接蛋白/SH 2B衔接蛋白3、自噬相关蛋白2B、GSK 3B相互作用蛋白α和RB结合蛋白6、泛素连接酶等尚待证实或探索的突变进行综述。还提供了与生殖系突变相关的疾病的管理建议。
In 2016, the World Health Organization incorporated ‘myeloid neoplasms with germline predisposition’ into its classification of tumors of hematopoietic and lymphoid tissues, revealing the important role of germline mutations in certain myeloid neoplasms, particularly myelodysplastic syndrome and acute myeloid leukemia. The awareness of germline susceptibility has increased, and some patients with myeloid neoplasms present with a preexisting disorder or organ dysfunction. In such cases, mutations in genes including CCAAT enhancer binding protein α (CEBPA), DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), RUNX family transcription factor 1 (RUNX1), GATA binding protein 2 (GATA2), Janus kinase 2 (JAK2) and ETS variant transcription factor 6 (ETV6) have been recognized. Moreover, with the application of advanced technologies and reports of more cases, additional germline mutations associated with myeloid neoplasms have been identified and provide insights into the formation, prognosis and therapy of myeloid neoplasms. The present review discusses the well-known CEBPA, DDX41, RUNX1, GATA2, JAK2 and ETV6 germline mutations, and other mutations including those of lymphocyte adapter protein/SH2B adapter protein 3 and duplications of autophagy related 2B, GSK3B interacting protein αnd RB binding protein 6, ubiquitin ligase, that remain to be confirmed or explored. Recommendations for the management of diseases associated with germline mutations are also provided.
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影响因子：
20.3
作者：
Balakumaran, Arun;Mishra, Prasun J.;Robey, Pamela G.
通讯作者：
Robey, Pamela G.
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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影响因子：
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作者：
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影响因子：
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作者：
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