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The landscape of myeloid neoplasms with isochromosome 17q discloses a specific mutation profile and is characterized by an accumulation of prognostically adverse molecular markers.

作者信息

Meggendorfer M, Haferlach C, Zenger M, Macijewski K, Kern W, Haferlach T

机构信息

MLL Munich Leukemia Laboratory, Munich, Germany.

出版信息

Leukemia. 2016 Jul;30(7):1624-7. doi: 10.1038/leu.2016.21. Epub 2016 Feb 9.

DOI:10.1038/leu.2016.21
PMID:26859077
Abstract
摘要

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1
The landscape of myeloid neoplasms with isochromosome 17q discloses a specific mutation profile and is characterized by an accumulation of prognostically adverse molecular markers.伴有17号染色体长臂等臂染色体的髓系肿瘤格局揭示了一种特定的突变谱，并以预后不良分子标志物的积累为特征。
Leukemia. 2016 Jul;30(7):1624-7. doi: 10.1038/leu.2016.21. Epub 2016 Feb 9.
2
Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53.孤立性 17q 等臂染色体髓系肿瘤是一种临床病理实体，与骨髓增生异常/骨髓增殖性特征、白血病转化风险高和野生型 TP53 相关。
Cancer. 2012 Jun 1;118(11):2879-88. doi: 10.1002/cncr.26537. Epub 2011 Oct 28.
3
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.伴有孤立性17号染色体长臂等臂染色体的髓系肿瘤在SETBP1、SRSF2、ASXL1和NRAS中显示出高频突变。
Oncotarget. 2016 Mar 22;7(12):14251-8. doi: 10.18632/oncotarget.7350.
4
Isolated isochromosome 17q: a distinct type of mixed myeloproliferative disorder/myelodysplastic syndrome with an aggressive clinical course.孤立性17号染色体长臂等臂染色体：一种具有侵袭性临床病程的独特类型的混合性骨髓增殖性疾病/骨髓增生异常综合征。
Br J Haematol. 1999 Aug;106(2):445-54. doi: 10.1046/j.1365-2141.1999.01537.x.
5
Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent.急性髓系白血病伴骨髓增生异常相关改变患者经去甲基化药物治疗后出现17号染色体等臂染色体的病例报告。
Genet Mol Res. 2012 Aug 6;11(3):2045-50. doi: 10.4238/2012.August.6.8.
6
Isochromosome 17q in MDS: a marker of a distinct entity.骨髓增生异常综合征中的17号等臂染色体：一种独特实体的标志物。
Cancer Genet Cytogenet. 2006 Apr 15;166(2):189-90. doi: 10.1016/j.cancergencyto.2005.10.004.
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Recurrent genetic defects on chromosome 5q in myeloid neoplasms.髓系肿瘤中5号染色体长臂上的复发性基因缺陷。
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Mutational analysis in serial marrow samples during azacitidine treatment in patients with post-transplant relapse of acute myeloid leukemia or myelodysplastic syndromes.急性髓系白血病或骨髓增生异常综合征移植后复发患者接受阿扎胞苷治疗期间系列骨髓样本的突变分析。
Haematologica. 2017 Jun;102(6):e216-e218. doi: 10.3324/haematol.2016.162909. Epub 2017 Feb 16.
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Isochromosome (17)(q10) and translocation (4;12)(q12;p13) in a child with acute myeloid leukemia.一名急性髓系白血病患儿的等臂染色体（17）（q10）和易位（4；12）（q12；p13）
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NPM1 mutations may reveal acute myeloid leukemia in cases otherwise morphologically diagnosed as myelodysplastic syndromes or myelodysplastic/myeloproliferative neoplasms.NPM1突变可能会在形态学上被诊断为骨髓增生异常综合征或骨髓增生异常/骨髓增殖性肿瘤的病例中揭示急性髓系白血病。
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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.深度基因组特征分析揭示了儿科急性髓细胞白血病的复杂性和预后标志物。
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Unraveling the Structural Variations of Early-Stage Mycosis Fungoides-CD3 Based Purification and Third Generation Sequencing as Novel Tools for the Genomic Landscape in CTCL.解析蕈样肉芽肿早期基于CD3的纯化结构变异以及作为皮肤T细胞淋巴瘤基因组格局新工具的第三代测序技术。
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Pediatric acute myeloid leukemia patients with i(17)(q10) mimicking acute promyelocytic leukemia: Two case reports.

本文引用的文献

1
Clinical and genetic predictors of prognosis in myelodysplastic syndromes.骨髓增生异常综合征预后的临床和遗传预测指标
Haematologica. 2014 Jun;99(6):956-64. doi: 10.3324/haematol.2013.085217.
2
Clinicopathologic and molecular characterization of myeloid neoplasms harboring isochromosome 17(q10).携带17号等臂染色体（q10）的髓系肿瘤的临床病理及分子特征
Am J Hematol. 2014 Aug;89(8):862. doi: 10.1002/ajh.23755. Epub 2014 May 16.
3
Prognostic score including gene mutations in chronic myelomonocytic leukemia.包含基因突变的慢性髓单核细胞白血病预后评分。
表现为急性早幼粒细胞白血病的i(17)(q10)小儿急性髓系白血病患者：两例报告
World J Clin Cases. 2022 Jun 6;10(16):5446-5455. doi: 10.12998/wjcc.v10.i16.5446.
4
Myelodysplastic/myeloproliferative neoplasms-unclassifiable with isolated isochromosome 17q represents a distinct clinico-biologic subset: a multi-institutional collaborative study from the Bone Marrow Pathology Group.孤立性 17q 等臂染色体的骨髓增生异常/骨髓增殖性肿瘤-不能分类代表一个独特的临床生物学亚组：来自骨髓病理学组的多机构合作研究。
Mod Pathol. 2022 Apr;35(4):470-479. doi: 10.1038/s41379-021-00961-0. Epub 2021 Nov 13.
5
Clinical and Molecular Approach to Adult-Onset, Neoplastic Monocytosis.成人发病、肿瘤性单核细胞增多症的临床与分子方法学研究
Curr Hematol Malig Rep. 2021 Jun;16(3):276-285. doi: 10.1007/s11899-021-00632-6. Epub 2021 Apr 22.
6
Concomitant isochromosome 17q and mutated in a myelodysplastic syndrome patient with a poor prognosis.一名预后不良的骨髓增生异常综合征患者同时存在17号染色体等臂染色体和突变。
Int J Clin Exp Pathol. 2017 Sep 1;10(9):9786-9792. eCollection 2017.
7
Myeloid Neoplasms with Isolated Isochromosome 17q: a yet to be Defined Entity.伴有孤立性17号染色体等臂染色体的髓系肿瘤：一个尚未明确的实体。
Mediterr J Hematol Infect Dis. 2017 Nov 1;9(1):e2017066. doi: 10.4084/MJHID.2017.066. eCollection 2017.
8
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.伴有孤立性17号染色体长臂等臂染色体的髓系肿瘤在SETBP1、SRSF2、ASXL1和NRAS中显示出高频突变。
Oncotarget. 2016 Mar 22;7(12):14251-8. doi: 10.18632/oncotarget.7350.
J Clin Oncol. 2013 Jul 1;31(19):2428-36. doi: 10.1200/JCO.2012.47.3314. Epub 2013 May 20.
4
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.SETBP1 突变发生在 9%的 MDS/MPN 和 4%的 MPN 病例中，与非典型 CML、单体 7、i(17)(q10) 等臂染色体、ASXL1 和 CBL 突变密切相关。
Leukemia. 2013 Sep;27(9):1852-60. doi: 10.1038/leu.2013.133. Epub 2013 Apr 30.
5
Mutations and prognosis in primary myelofibrosis.原发性骨髓纤维化中的突变与预后。
Leukemia. 2013 Sep;27(9):1861-9. doi: 10.1038/leu.2013.119. Epub 2013 Apr 26.
6
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.非典型慢性髓性白血病中反复出现的 SETBP1 突变。
Nat Genet. 2013 Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9.
7
SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML).275 例慢性粒单核细胞白血病（CMML）患者中的 SRSF2 突变。
Blood. 2012 Oct 11;120(15):3080-8. doi: 10.1182/blood-2012-01-404863. Epub 2012 Aug 23.
8
Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53.孤立性 17q 等臂染色体髓系肿瘤是一种临床病理实体，与骨髓增生异常/骨髓增殖性特征、白血病转化风险高和野生型 TP53 相关。
Cancer. 2012 Jun 1;118(11):2879-88. doi: 10.1002/cncr.26537. Epub 2011 Oct 28.
9
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.
10
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.骨髓增生异常综合征和慢性粒单核细胞白血病中多梳相关基因ASXL1的突变
Br J Haematol. 2009 Jun;145(6):788-800. doi: 10.1111/j.1365-2141.2009.07697.x. Epub 2009 Apr 15.