- 通过RNA测序在伴有t(9;12)(q34;q15)的急性髓系白血病中鉴定出融合现象
-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15).
作者信息
Panagopoulos Ioannis, Gorunova Ludmila, Torkildsen Synne, Tjønnfjord Geir E, Micci Francesca, Heim Sverre
机构信息
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
出版信息
Cancer Genomics Proteomics. 2017 Nov-Dec;14(6):437-443. doi: 10.21873/cgp.20053.
Abstract
BACKGROUND/AIM: Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies.
CASE REPORT
RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16].
RESULTS
The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase chain reaction together with direct sequencing verified the presence of both. Fluorescence in situ hybridization showed that the DEK-NUP214 fusion gene was located on the 6p22 band of a seemingly normal chromosome 6.
CONCLUSION
RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34.
摘要
背景/目的：鉴于白血病相关易位和融合基因在诊断、预后、生物学乃至治疗方面的影响，检测血液系统恶性肿瘤中可能存在的隐匿性基因组重排非常重要。
病例报告
对一例骨髓核型为45,X,-Y,t(9;12)(q34;q15)[16]的急性髓系白血病病例进行了RNA测序。
结果
发现了DEK-NUP214和PRRC2B-DEK融合基因。逆转录聚合酶链反应结合直接测序证实了两者的存在。荧光原位杂交显示DEK-NUP214融合基因位于一条看似正常的6号染色体的6p22带上。
结论
RNA测序被证明是检测在9q34染色体带显示隐匿性细胞遗传学重排的白血病中DEK和NUP214基因融合的有价值工具。
相似文献
1
-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15).- 通过RNA测序在伴有t(9;12)(q34;q15)的急性髓系白血病中鉴定出融合现象
Cancer Genomics Proteomics. 2017 Nov-Dec;14(6):437-443. doi: 10.21873/cgp.20053.
2
Myelodysplastic syndrome with t(6;9)(p22;q34.1)/DEK-NUP214 better classified as acute myeloid leukemia? A multicenter study of 107 cases.伴 t(6;9)(p22;q34.1)/DEK-NUP214 骨髓增生异常综合征是否应更好地归类为急性髓系白血病？107 例多中心研究。
Mod Pathol. 2021 Jun;34(6):1143-1152. doi: 10.1038/s41379-021-00741-w. Epub 2021 Feb 8.
3
Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR.DEK-NUP214融合蛋白的强制表达通过mTOR的上调促进增殖。
BMC Cancer. 2013 Sep 27;13:440. doi: 10.1186/1471-2407-13-440.
4
t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients.t(6;9)(p22;q34)/DEK-NUP214重排的儿童髓系白血病：一项对62例患者的国际研究
Haematologica. 2014 May;99(5):865-72. doi: 10.3324/haematol.2013.098517. Epub 2014 Jan 17.
5
Understanding a high-risk acute myeloid leukemia by analyzing the interactome of its major driver mutation.通过分析主要驱动突变的互作网络来理解高危急性髓系白血病。
PLoS Genet. 2022 Oct 26;18(10):e1010463. doi: 10.1371/journal.pgen.1010463. eCollection 2022 Oct.
6
[Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation].[DEK-NUP214融合基因在急性髓系白血病患者异基因造血干细胞移植后的预后意义]
Zhonghua Nei Ke Za Zhi. 2021 Oct 1;60(10):868-874. doi: 10.3760/cma.j.cn112138-20201015-00868.
7
Identification of a novel fusion TBL1XR1-PDGFRB in a patient with acute myeloid leukemia harboring the DEK-NUP214 fusion and clinical response to dasatinib.在一名携带DEK-NUP214融合基因的急性髓系白血病患者中鉴定出一种新型融合基因TBL1XR1-PDGFRB及其对达沙替尼的临床反应。
Leuk Lymphoma. 2017 Dec;58(12):2969-2972. doi: 10.1080/10428194.2017.1318437. Epub 2017 May 16.
8
t(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities.急性髓系白血病中t(5;12)(q31;p13)/ETV6::ACSL6与t(6;9)(p23;q34)/DEK::NUP214并发：两种罕见异常的不寻常关联
Cancer Genet. 2022 Apr;262-263:35-39. doi: 10.1016/j.cancergen.2021.12.006. Epub 2021 Dec 22.
9
Transformation of human CD34+ hematopoietic progenitor cells with DEK-NUP214 induces AML in an immunocompromised mouse model.用DEK-NUP214转化人类CD34+造血祖细胞在免疫缺陷小鼠模型中诱发急性髓系白血病。
Oncogene. 2016 Oct 27;35(43):5686-5691. doi: 10.1038/onc.2016.118. Epub 2016 Apr 11.
10
[Analysis of therapeutic effects of allogeneic hematopoietic stem cell transplantation in 12 patients with DEK-NUP214 fusion gene positive acute myeloid leukemia].[12例DEK-NUP214融合基因阳性急性髓系白血病患者异基因造血干细胞移植的疗效分析]
Zhonghua Xue Ye Xue Za Zhi. 2024 Apr 14;45(4):383-387. doi: 10.3760/cma.j.cn121090-20230913-00115.
引用本文的文献
1
The adult HNRNPH1::ERG positive acute myeloid leukemia with clear lower remission and worse prognosis: A case report and review of the literature.成人HNRNPH1::ERG阳性急性髓系白血病缓解率明显较低且预后较差：一例病例报告及文献复习
Medicine (Baltimore). 2025 Apr 4;104(14):e41809. doi: 10.1097/MD.0000000000041809.
2
fusion genes in acute leukemias: genetic characterization of rare cases.急性白血病中的融合基因：罕见病例的遗传学特征
Front Oncol. 2024 Mar 20;14:1371980. doi: 10.3389/fonc.2024.1371980. eCollection 2024.
3
The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia.染色质结合蛋白 DEK 在造血和急性髓系白血病中的作用。
Exp Hematol. 2023 Jul;123:18-27. doi: 10.1016/j.exphem.2023.05.002. Epub 2023 May 10.
4
RNA binding protein PRRC2B mediates translation of specific mRNAs and regulates cell cycle progression.RNA 结合蛋白 PRRC2B 介导特定 mRNA 的翻译，并调节细胞周期进程。
Nucleic Acids Res. 2023 Jun 23;51(11):5831-5846. doi: 10.1093/nar/gkad322.
5
Therapy-induced Deletion in 11q23 Leading to Fusion of With and Development of B Lineage Acute Lymphoplastic Leukemia in a Child Treated for Acute Myeloid Leukemia Caused by t(9;11)(p21;q23)/.治疗诱导的 11q23 缺失导致融合和 B 系急性淋巴细胞白血病的发生，该患儿因 t(9;11)(p21;q23)/ 所致急性髓系白血病接受治疗。
Cancer Genomics Proteomics. 2021 Jan-Feb;18(1):67-81. doi: 10.21873/cgp.20242. Epub 2021 Jan 8.
6
Novel - and - fusions in pediatric leukemia with normal karyotype.核型正常的儿童白血病中的新型融合基因
Exp Hematol Oncol. 2019 May 29;8:12. doi: 10.1186/s40164-019-0136-y. eCollection 2019.
7
RUNX1-PDCD6 fusion resulting from a novel t(5;21)(p15;q22) chromosome translocation in myelodysplastic syndrome secondary to chronic lymphocytic leukemia.RUNX1-PDCD6 融合基因源于慢性淋巴细胞白血病继发骨髓增生异常综合征中的一个新型 t(5;21)(p15;q22)染色体易位。
PLoS One. 2018 Apr 19;13(4):e0196181. doi: 10.1371/journal.pone.0196181. eCollection 2018.
本文引用的文献
1
Acute myeloid leukaemia genomics.急性髓系白血病基因组学
Br J Haematol. 2017 Nov;179(4):530-542. doi: 10.1111/bjh.14823. Epub 2017 Jun 27.
2
Genetic Basis of Acute Lymphoblastic Leukemia.急性淋巴细胞白血病的遗传基础
J Clin Oncol. 2017 Mar 20;35(9):975-983. doi: 10.1200/JCO.2016.70.7836. Epub 2017 Feb 13.
3
SNP Array in Hematopoietic Neoplasms: A Review.造血系统肿瘤中的单核苷酸多态性阵列：综述
Microarrays (Basel). 2015 Dec 22;5(1):1. doi: 10.3390/microarrays5010001.
4
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.
5
Hypereosinophilic Syndrome.高嗜酸性粒细胞综合征
Clin Rev Allergy Immunol. 2016 Apr;50(2):240-51. doi: 10.1007/s12016-015-8506-7.
6
Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia.急性髓系白血病中KAT6A-CREBBP检测的核型分析-荧光原位杂交-逆转录聚合酶链反应与RNA测序-融合基因鉴定程序的比较
PLoS One. 2014 May 5;9(5):e96570. doi: 10.1371/journal.pone.0096570. eCollection 2014.
7
t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients.t(6;9)(p22;q34)/DEK-NUP214重排的儿童髓系白血病：一项对62例患者的国际研究
Haematologica. 2014 May;99(5):865-72. doi: 10.3324/haematol.2013.098517. Epub 2014 Jan 17.
8
Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR.DEK-NUP214融合蛋白的强制表达通过mTOR的上调促进增殖。
BMC Cancer. 2013 Sep 27;13:440. doi: 10.1186/1471-2407-13-440.
9
Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia.通过 RNA 测序在儿童急性髓系白血病中鉴定出隐匿性 FUS-ERG 融合。
Oncol Rep. 2013 Dec;30(6):2587-92. doi: 10.3892/or.2013.2751. Epub 2013 Sep 25.
10
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.携带 Inv(16)(p13.3q24.3) 易位的 CBFA2T3-GLIS2 融合蛋白定义了一种具有侵袭性的儿童急性巨核细胞白血病亚型。
Cancer Cell. 2012 Nov 13;22(5):683-97. doi: 10.1016/j.ccr.2012.10.007.
Zotero 插件