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伴有RUNX1重复/扩增及嗜酸性粒细胞增多的急性多系(B/髓系)白血病

Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia.

作者信息

Holmes Allen, Coviello Jean, Velagaleti Gopalrao

机构信息

San Antonio Military Medical Center, USAF, Fort Sam Houston, TX, USA.

出版信息

Eur J Haematol. 2014 Nov;93(5):449-52. doi: 10.1111/ejh.12333. Epub 2014 Aug 2.

Abstract

A 14-year-old girl presented with myalgias and decreased energy and was found to have a white count of 73,000 with 75% eosinophils. Flow cytometry and immunostains showed the blasts in the bone marrow expressed both myeloid and lymphoid markers. Patient was diagnosed with acute multilineage (B/Myeloid) leukemia. Genetic testing revealed four copies of the RUNX1 gene region in 25.5%, with a normal karyotype and no evidence of t(8;21) or t(12;21) by fluorescence in situ hybridization. RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute lymphoblastic leukemia, and MDS, but have not yet been seen with acute multilineage leukemia. Additionally, it is unclear what the risk stratification of this unique presentation will turn out to be.

摘要

一名14岁女孩因肌痛和精力下降就诊,发现白细胞计数为73,000,嗜酸性粒细胞占75%。流式细胞术和免疫染色显示骨髓中的原始细胞同时表达髓系和淋巴系标志物。患者被诊断为急性多系(B/髓系)白血病。基因检测显示25.5%的患者RUNX1基因区域有四个拷贝,核型正常,荧光原位杂交未发现t(8;21)或t(12;21)的证据。RUNX1易位和扩增与急性髓细胞白血病、急性淋巴细胞白血病和骨髓增生异常综合征有关,但急性多系白血病中尚未见报道。此外,尚不清楚这种独特表现的风险分层最终会是怎样。

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