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Rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases.中危急性髓系白血病中罕见的NPM1和RUNX1基因同时突变表现出与单基因突变病例相似的模式。
Haematologica. 2014 Feb;99(2):e20-1. doi: 10.3324/haematol.2013.099754.
2
Reply to "rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases". Haematologica 2014;99(2):e20-21.对《中危急性髓系白血病中罕见的NPM1和RUNX1基因同时突变与单基因突变病例表现出相似模式》的回复。《血液学杂志》2014年;99(2):e20 - 21。
Haematologica. 2014 Feb;99(2):e22. doi: 10.3324/haematol.2013.100669.
3
In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline.在同时携带RUNX1和NPM1突变的罕见急性髓系白血病患者中,RUNX1突变结构异常且存在于种系中。
Haematologica. 2013 Aug;98(8):e92-4. doi: 10.3324/haematol.2013.089904. Epub 2013 Jun 10.
4
CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia.CSF3R 突变常与急性髓系白血病中 RUNX1、CBFB、CEBPA 和 NPM1 基因的异常有关。
Cancer. 2018 Aug;124(16):3329-3338. doi: 10.1002/cncr.31586. Epub 2018 Jun 22.
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and Mutations Influence the Expression Correlations in Acute Myeloid Leukemia.并且突变影响急性髓细胞白血病中的表达相关性。
Medicina (Kaunas). 2020 Nov 24;56(12):637. doi: 10.3390/medicina56120637.
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RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes.RUNX1 基因突变与细胞遗传学正常的急性髓系白血病不良预后相关,并导致淋巴样基因的上调。
Haematologica. 2012 Dec;97(12):1909-15. doi: 10.3324/haematol.2012.064667. Epub 2012 Jun 11.
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NPM1 mutation but not RUNX1 mutation or multilineage dysplasia defines a prognostic subgroup within de novo acute myeloid leukemia lacking recurrent cytogenetic abnormalities in the revised 2016 WHO classification.在2016年世界卫生组织修订分类中,NPM1突变而非RUNX1突变或多系发育异常定义了一组在无复发性细胞遗传学异常的初发急性髓系白血病中的预后亚组。
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Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML.对269例骨髓增生异常综合征(MDS)或继发性急性髓系白血病(AML)患者进行RUNX1、MLL-PTD、FLT3-ITD、NPM1和NRAS的突变分析。
Leukemia. 2010 Aug;24(8):1528-32. doi: 10.1038/leu.2010.124. Epub 2010 Jun 3.
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Searching for germline mutations in the gene among Polish patients with acute myeloid leukemia.在波兰急性髓细胞白血病患者中寻找 基因的种系突变。
Leuk Lymphoma. 2021 Jul;62(7):1749-1755. doi: 10.1080/10428194.2021.1881503. Epub 2021 Feb 10.
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Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited mutations without a pre-existing platelet disorder.一例家族性骨髓增生异常综合征/急性髓系白血病的基因组分析及无既往血小板疾病的遗传性突变
Leuk Lymphoma. 2020 Jan;61(1):181-184. doi: 10.1080/10428194.2019.1648801. Epub 2019 Aug 6.

引用本文的文献

1
Acute myeloid leukemia with concurrent and mutations.伴有并发 和 突变的急性髓系白血病。 (注:原文中“concurrent and mutations”部分信息不完整,可能影响准确理解)
Leuk Res Rep. 2023 Aug 26;20:100385. doi: 10.1016/j.lrr.2023.100385. eCollection 2023.
2
Reply to "rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases". Haematologica 2014;99(2):e20-21.对《中危急性髓系白血病中罕见的NPM1和RUNX1基因同时突变与单基因突变病例表现出相似模式》的回复。《血液学杂志》2014年;99(2):e20 - 21。
Haematologica. 2014 Feb;99(2):e22. doi: 10.3324/haematol.2013.100669.

本文引用的文献

1
In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline.在同时携带RUNX1和NPM1突变的罕见急性髓系白血病患者中,RUNX1突变结构异常且存在于种系中。
Haematologica. 2013 Aug;98(8):e92-4. doi: 10.3324/haematol.2013.089904. Epub 2013 Jun 10.
2
RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis.RUNX1 突变在非复杂性核型的初发性 AML 中频繁发生,并预示不良预后。
Blood. 2011 Feb 24;117(8):2348-57. doi: 10.1182/blood-2009-11-255976. Epub 2010 Dec 9.
3
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features.伴有NPM1突变且核型正常或异常的急性髓系白血病具有重叠的生物学、病理学、免疫表型和预后特征。
Blood. 2009 Oct 1;114(14):3024-32. doi: 10.1182/blood-2009-01-197871. Epub 2009 May 8.

Rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases.

作者信息

Fasan Annette, Haferlach Claudia, Kohlmann Alexander, Dicker Frank, Eder Christiane, Kern Wolfgang, Haferlach Torsten, Schnittger Susanne

出版信息

Haematologica. 2014 Feb;99(2):e20-1. doi: 10.3324/haematol.2013.099754.

DOI:10.3324/haematol.2013.099754
PMID:24497565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3912979/
Abstract
摘要