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Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.

作者信息

Masetti Riccardo, Togni Marco, Astolfi Annalisa, Pigazzi Martina, Indio Valentina, Rivalta Beatrice, Manara Elena, Rutella Sergio, Basso Giuseppe, Pession Andrea, Locatelli Franco

机构信息

Paediatric Oncology and Haematology "Lalla Seràgnoli", University of Bologna, Bologna, Italy.

出版信息

Br J Haematol. 2014 Aug;166(3):449-52. doi: 10.1111/bjh.12855. Epub 2014 Mar 27.

DOI:10.1111/bjh.12855
PMID:24673627
Abstract
摘要

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Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.一名患有del(5q)的儿童新发急性髓系白血病病例的全转录组测序揭示了RUNX1-USP42和PRDM16-SKI融合转录本。
Br J Haematol. 2014 Aug;166(3):449-52. doi: 10.1111/bjh.12855. Epub 2014 Mar 27.
2
Transcriptome sequencing reveals CHD1 as a novel fusion partner of RUNX1 in acute myeloid leukemia with t(5;21)(q21;q22).转录组测序揭示CHD1是急性髓系白血病伴t(5;21)(q21;q22)中RUNX1的新型融合伴侣。
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Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion.伴 7;21(p22;q22)易位和 5q 缺失的髓性白血病。
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Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22).一名急性髓系白血病患者出现t(1;21)(p36;q22),检测到新型RUNX1-PRDM16融合转录本
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NHR4 domain mutations of ETO are probably very infrequent in AML1-ETO positive myeloid leukemia cells.在AML1-ETO阳性髓系白血病细胞中,ETO的NHR4结构域突变可能非常罕见。
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Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.在一例t(1;21)(p36;q22)阳性的治疗相关急性髓系白血病病例中截短型RUNX1和RUNX1-PRDM16融合转录本的鉴定
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Complete remission of refractory juvenile acute myeloid leukaemia with RUNX1-PRDM16 in Bloom syndrome after haematopoietic stem cell transplantation.造血干细胞移植后,RUNX1-PRDM16用于布卢姆综合征难治性青少年急性髓系白血病实现完全缓解
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Overexpression of PRDM16 in the presence and absence of the RUNX1/PRDM16 fusion gene in myeloid leukemias.PRDM16在髓系白血病中存在和不存在RUNX1/PRDM16融合基因时的过表达情况。
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Acute myeloid leukemia with del(X)(p21) and cryptic RUNX1/RUNX1T1 from ins(8;21)(q22;q22q22) revealed by atypical FISH signals.非典型荧光原位杂交信号显示的伴有X染色体(p21)缺失及隐匿性RUNX1/RUNX1T1的急性髓系白血病,该隐匿性RUNX1/RUNX1T1源自8号和21号染色体的插入(8;21)(q22;q22q22)
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Identification of a novel :: fusion gene in T-prolymphocytic leukemia.T 前淋巴细胞白血病中一种新型::融合基因的鉴定。
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Multifaceted Role of PRDM Proteins in Human Cancer.PRDM 蛋白在人类癌症中的多方面作用。
Int J Mol Sci. 2020 Apr 10;21(7):2648. doi: 10.3390/ijms21072648.
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Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response.人真皮成纤维细胞:研究重度抑郁症生物学机制和抗抑郁药反应的有前途的细胞模型。
Curr Neuropharmacol. 2020;18(4):301-318. doi: 10.2174/1570159X17666191021141057.
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The first case of acute myeloid leukemia with solitary t(6;7)(p21.3;p22) passenger translocation that developed at relapse after allogeneic hematopoietic stem cell transplantation in a patient with a normal karyotype at the initial diagnosis.首例急性髓系白血病伴孤立性t(6;7)(p21.3;p22)乘客易位,该病例在初诊时核型正常的患者接受异基因造血干细胞移植后复发时出现。
Blood Res. 2016 Dec;51(4):279-281. doi: 10.5045/br.2016.51.4.279. Epub 2016 Dec 23.
5
5'RUNX1-3'USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications.急性髓系白血病中的5'RUNX1-3'USP42嵌合基因可通过插入机制而非易位产生,且可能由基因组片段重复介导。
Mol Cytogenet. 2014 Oct 1;7(1):66. doi: 10.1186/s13039-014-0066-7. eCollection 2014.