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Acute myeloid leukemias with ring sideroblasts show a unique molecular signature straddling secondary acute myeloid leukemia and acute myeloid leukemia.

作者信息

Martin-Cabrera Pedro, Jeromin Sabine, Perglerovà Karolína, Haferlach Claudia, Kern Wolfgang, Haferlach Torsten

机构信息

MLL Munich Leukemia Laboratory, Germany.

MLL2 s.r.o., Prague, Czech Republic.

出版信息

Haematologica. 2017 Apr;102(4):e125-e128. doi: 10.3324/haematol.2016.156844. Epub 2017 Jan 5.

DOI:10.3324/haematol.2016.156844
PMID:28057736
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5395122/
Abstract
摘要

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Acute myeloid leukemias with ring sideroblasts show a unique molecular signature straddling secondary acute myeloid leukemia and acute myeloid leukemia.伴有环形铁粒幼细胞的急性髓系白血病表现出一种独特的分子特征,跨越继发性急性髓系白血病和急性髓系白血病。
Haematologica. 2017 Apr;102(4):e125-e128. doi: 10.3324/haematol.2016.156844. Epub 2017 Jan 5.
2
High p53 protein expression in therapy-related myeloid neoplasms is associated with adverse karyotype and poor outcome.治疗相关髓系肿瘤中高 p53 蛋白表达与不良核型和预后不良相关。
Mod Pathol. 2015 Apr;28(4):552-63. doi: 10.1038/modpathol.2014.153. Epub 2014 Nov 21.
3
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Leuk Lymphoma. 2018 Dec;59(12):2994-2997. doi: 10.1080/10428194.2018.1443452. Epub 2018 Apr 4.
4
Immunohistochemical pattern of p53 is a measure of TP53 mutation burden and adverse clinical outcome in myelodysplastic syndromes and secondary acute myeloid leukemia.p53的免疫组织化学模式是骨髓增生异常综合征和继发性急性髓系白血病中TP53突变负荷及不良临床结局的一项指标。
Haematologica. 2016 Aug;101(8):e320-3. doi: 10.3324/haematol.2016.143214. Epub 2016 Apr 14.
5
Expression of CDKN1C in the bone marrow of patients with myelodysplastic syndrome and secondary acute myeloid leukemia is associated with poor survival after conventional chemotherapy.细胞周期蛋白依赖性激酶抑制剂1C(CDKN1C)在骨髓增生异常综合征和继发性急性髓系白血病患者骨髓中的表达与传统化疗后的不良生存相关。
Int J Cancer. 2016 Sep 15;139(6):1402-13. doi: 10.1002/ijc.30181. Epub 2016 Jun 3.
6
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7
Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases.通过下一代测序技术对治疗相关骨髓增生异常综合征和急性髓系白血病进行突变分析,并与初发性疾病进行比较。
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Transforming growth factor β1-mediated functional inhibition of mesenchymal stromal cells in myelodysplastic syndromes and acute myeloid leukemia.转化生长因子 β1 介导的骨髓增生异常综合征和急性髓系白血病间充质基质细胞功能抑制。
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Ring sideroblasts in AML are associated with adverse risk characteristics and have a distinct gene expression pattern.环形铁幼粒细胞性难治性贫血伴原始细胞增多型白血病(MDS/RAEB)与不良风险特征相关,并具有独特的基因表达模式。
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引用本文的文献

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Causes and Pathophysiology of Acquired Sideroblastic Anemia.获得性铁粒幼红细胞性贫血的病因和发病机制。
Genes (Basel). 2022 Aug 30;13(9):1562. doi: 10.3390/genes13091562.
2
Acquired Sideroblastic Anemia: An Exploratory Comparative Statistical Analysis Between Clonal and Non-clonal Cases.获得性铁粒幼细胞贫血:克隆性与非克隆性病例的探索性比较统计分析
Mediterr J Hematol Infect Dis. 2022 Sep 1;14(1):e2022067. doi: 10.4084/MJHID.2022.067. eCollection 2022.
3
Ring sideroblasts in AML are associated with adverse risk characteristics and have a distinct gene expression pattern.环形铁幼粒细胞性难治性贫血伴原始细胞增多型白血病(MDS/RAEB)与不良风险特征相关,并具有独特的基因表达模式。
Blood Adv. 2019 Oct 22;3(20):3111-3122. doi: 10.1182/bloodadvances.2019000518.

本文引用的文献

1
Genomic Classification and Prognosis in Acute Myeloid Leukemia.急性髓系白血病的基因组分类与预后
N Engl J Med. 2016 Jun 9;374(23):2209-2221. doi: 10.1056/NEJMoa1516192.
2
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
3
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations.急性髓系白血病的发生是由独特的体细胞突变所定义的。
Blood. 2015 Feb 26;125(9):1367-76. doi: 10.1182/blood-2014-11-610543. Epub 2014 Dec 30.
4
Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.伴有环形铁粒幼细胞和显著血小板增多症的难治性贫血病例存在SF3B1或其他剪接体基因的突变,并伴有JAK2V617F和ASXL1突变。
Haematologica. 2015 Apr;100(4):e125-7. doi: 10.3324/haematol.2014.119032. Epub 2014 Dec 19.
5
SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value.SF3B1 突变在环形铁幼粒细胞性难治性贫血伴原始细胞增多性骨髓增生异常综合征中较为常见,但不具有独立的预后价值。
Blood. 2012 Jan 12;119(2):569-72. doi: 10.1182/blood-2011-09-377994. Epub 2011 Nov 17.
6
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.SF3B1 突变在骨髓增生异常综合征和骨髓增生异常/骨髓增殖性肿瘤中的临床意义。
Blood. 2011 Dec 8;118(24):6239-46. doi: 10.1182/blood-2011-09-377275. Epub 2011 Oct 12.
7
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.环形铁幼粒细胞性难治性贫血伴多系发育异常中的体细胞 SF3B1 突变。
N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26.
8
Frequent pathway mutations of splicing machinery in myelodysplasia.骨髓增生异常综合征中剪接机制的频繁通路突变。
Nature. 2011 Sep 11;478(7367):64-9. doi: 10.1038/nature10496.
9
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.SF3B1是一种剪接因子,在伴有环形铁粒幼细胞的难治性贫血中经常发生突变。
Leukemia. 2012 Mar;26(3):542-5. doi: 10.1038/leu.2011.232. Epub 2011 Sep 2.
10
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.在英国医学研究理事会试验中治疗的 5876 例年轻成年患者中,对罕见重现染色体异常进行细胞遗传学分类的细化:确定其预后意义。
Blood. 2010 Jul 22;116(3):354-65. doi: 10.1182/blood-2009-11-254441. Epub 2010 Apr 12.