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Are the current guidelines for identification of myelodysplastic syndrome with germline predisposition strong enough?

作者信息

Calvete Oriol, Mestre Julia, Durmaz Arda, Gurnari Carmelo, Maciejewski Jaroslaw P, Solé Francesc

机构信息

Myelodysplastic Syndrome Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.

Department of Translational Hematology and Oncology Research, Lerner Research Institute, Cleveland Clinic, Ohio, Cleveland, USA.

出版信息

Br J Haematol. 2023 Apr;201(1):e5-e11. doi: 10.1111/bjh.18676. Epub 2023 Jan 30.

DOI:10.1111/bjh.18676
PMID:36717968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11104019/
Abstract
摘要

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Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.遗传性基因改变对成人骨髓衰竭与髓系肿瘤发病机制的意义。
Leukemia. 2022 Dec;36(12):2827-2834. doi: 10.1038/s41375-022-01729-4. Epub 2022 Oct 20.
2
Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.基因组分析在髓系肿瘤和急性白血病中的临床决策应用。
Blood. 2022 Nov 24;140(21):2228-2247. doi: 10.1182/blood.2022015853.
3
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
胚系倾向性变异在各年龄段骨髓增生异常综合征患者中均有发生。
Blood. 2022 Dec 15;140(24):2533-2548. doi: 10.1182/blood.2022015790.
4
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data.国际髓系肿瘤和急性白血病分类：整合形态学、临床和基因组数据。
Blood. 2022 Sep 15;140(11):1200-1228. doi: 10.1182/blood.2022015850.
5
The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.世界卫生组织血液淋巴肿瘤分类第五版：髓系和组织细胞/树突状肿瘤。
Leukemia. 2022 Jul;36(7):1703-1719. doi: 10.1038/s41375-022-01613-1. Epub 2022 Jun 22.
6
Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.将胚系变异评估纳入骨髓增生异常综合征和急性髓系白血病的常规临床实践：当前策略与挑战
Br J Haematol. 2022 Mar;196(6):1293-1310. doi: 10.1111/bjh.17855. Epub 2021 Oct 18.
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