Recurrent Novel P2RY8/IGH Translocations in B-Lymphoblastic Leukemia/Lymphoma.

Recurrent Novel P2RY8/IGH Translocations in B-Lymphoblastic Leukemia/Lymphoma.
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B 淋巴细胞白血病/淋巴瘤中复发性新型 P2RY8/IGH 易位

DOI:
10.3389/fonc.2022.896858
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发表时间:
2022
影响因子:
4.7
通讯作者:
Liu, Tianhui
Liu, Tianhui
中科院分区:
医学3区
文献类型:
--
作者:
Fang, Yanglan;Wang, Man;Hu, Shuhong;Wang, Tanzhen;Liu, Yujie;Xiao, Jinyan;Cai, Yiming;Wang, Ying;Qiu, Huiying;Tang, Xiaowen;Chen, Suning;Wu, Depei;Xu, Yang;Liu, Tianhui

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涉及免疫球蛋白重链(IGH)位点的易位在b淋巴母细胞白血病/淋巴瘤(B-ALL)和多发性骨髓瘤中是常见的异常。这些重排导致IGH增强子并置到癌基因附近,如MYC和CRLF2,导致癌基因上调。在这里,我们通过转录组测序在3例B-ALL患者中发现了复发的新型P2RY8/IGH易位。P2RY8的非编码外显子1被易位到IGH基因的不同位点,产生P2RY8/IGHM、P2RY8/IGHV和P2RY8/IGHD的转录本。然而,与健康供者相比,在患者中观察到截断的P2RY8的高表达水平,这可能与临床过程积极和预后较差有关。总之,我们描述了P2RY8高表达水平的复发性新型P2RY8/IGH易位,这可能有助于临床诊断和治疗指南。
Translocations involving the immunoglobulin heavy chain (IGH) locus are common abnormalities in B-lymphoblastic leukemia/lymphoma (B-ALL) and multiple myeloma. These rearrangements result in a juxtaposition of IGH enhancers to the vicinity of oncogenes, such as MYC and CRLF2, leading to the upregulation of oncogenes. Here, we identified recurrent novel P2RY8/IGH translocations in three B-ALL patients by transcriptome sequencing. Noncoding exon 1 of P2RY8 was translocated to different sites of the IGH gene, resulting in transcripts of P2RY8/IGHM, P2RY8/IGHV, and P2RY8/IGHD. However, a high expression level of truncated P2RY8 was observed in the patients compared with healthy donors, which might be related to the aggressive clinical course and inferior outcome. In summary, we described recurrent novel P2RY8/IGH translocations with high expression levels of P2RY8, which may contribute to the guidelines for clinical diagnosis and treatment.
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