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A novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction.
Annals of Hematology ( IF 3.0 ) Pub Date : 2020-05-26 , DOI: 10.1007/s00277-020-04000-x
Zhao Cheng 1 , Yunya Luo 1 , Yang Zhang 2 , Yewei Wang 1 , Yi Chen 1 , Yunxiao Xu 1 , Honling Peng 1 , Guangsen Zhang 1
Affiliation  

NUT midline carcinoma (NMC) is an aggressive neoplasm and mainly involved in the head and neck area. The defining genetic hallmark on these tumors is that testis-specific nuclear gene (NUTM1) fuses to bromodomain protein family member 4 gene (BRD4), resulting in the formation of BRD4-NUTM1 transcript. Here, we report a case with myeloid neoplasm complicating with eosinophilia (MLN-Eo) and rearrangement of PDGFRA, which co-exists with a new nucleosome assemble protein 1–like 4 gene (NAP1L4) NAP1L4-NUTM1 fusion. The patient have unusually clinical features and therapeutic reaction to imatinib mesylate. The cloned NAP1L4-NUTM1 gene structure is also determined.



中文翻译:

一种由嗜酸性粒细胞增多和 PDGFRA 重排的髓系肿瘤中的易位 t(11;15)(p15;q12) 引起的新型 NAP1L4/NUTM1 融合突出了不寻常的临床特征和治疗反应。

NUT 中线癌 (NMC) 是一种侵袭性肿瘤,主要累及头颈部区域。这些肿瘤的定义遗传标志是睾丸特异性核基因 ( NUTM1 ) 与溴结构域蛋白家族成员 4 基因 ( BRD4 )融合,从而形成BRD4-NUTM1转录物。在这里,我们报告了一例骨髓肿瘤并发嗜酸性粒细胞增多症 (MLN-Eo) 和PDGFRA重排的病例,该病例与新的核小体组装蛋白 1 样 4 基因 ( NAP1L4 ) NAP1L4-NUTM1融合共存。患者对甲磺酸伊马替尼有异常的临床特征和治疗反应。克隆的NAP1L4-NUTM1 基因结构也被确定。

更新日期:2020-06-25
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