...
首页> 外文期刊>British Journal of Haematology >PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.
【24h】

PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.

机译:PRDM16(1p36)易位定义了髓样恶性肿瘤的一个独特实体,预后较差,但也可能发生在淋巴样恶性肿瘤中。

获取原文
获取原文并翻译 | 示例
   

获取外文期刊封面封底 >>

       

摘要

The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) with t(1;3)(p36;q21), sharing characteristics with AML and MDS with MECOM (3q26.2) translocations. We used fluorescence in situ hybridization to study 39 haematological malignancies with translocations involving PRDM16 to assess the precise breakpoint on 1p36 and the identity of the partner locus. Reverse-transcription polymerase chain reaction (PCR) was performed in selected cases in order to confirm the partner locus. PRDM16 expression studies were performed on bone marrow samples of patients, normal controls and CD34(+) cells using TaqMan real-time quantitative PCR. PRDM16 was rearranged with the RPN1 (3q21) locus in 30 cases and with other loci in nine cases. The diagnosis was AML or MDS in most cases, except for two cases of lymphoid proliferation. We identified novel translocation partners of PRDM16, including the transcription factors ETV6 and IKZF1. Translocations involving PRDM16 lead to its overexpression irrespective of the consequence of the rearrangement (fusion gene or promoter swap). Survival data suggest that patients with AML/MDS and PRDM16 translocations have a poor prognosis despite a simple karyotype and a median age of 65 years. There seems to be an over-representation of late-onset therapy-related myeloid malignancies.
机译:PRDM16(1p36)基因在急性髓样白血病(AML)和骨髓增生异常综合征(MDS)中以t(1; 3)(p36; q21)重新排列,与AML和MEDS(3q26.2)易位的MDS具有共同特征。我们使用荧光原位杂交技术研究了39例涉及PRDM16易位的血液系统恶性肿瘤,以评估1p36的精确断裂点和伴侣基因座的身份。为了确定伴侣基因座,在某些情况下进行了逆转录聚合酶链反应(PCR)。使用TaqMan实时定量PCR对患者,正常对照和CD34(+)细胞的骨髓样品进行PRDM16表达研究。 PRDM16与RPN1(3q21)基因座重新排列了30例,其他基因座重新排列了9例。除2例淋巴样增生外,大多数病例的诊断为AML或MDS。我们确定了PRDM16的新型易位伴侣,包括转录因子ETV6和IKZF1。涉及PRDM16的易位导致其过表达,而与重排的结果无关(融合基因或启动子交换)。生存数据表明,尽管存在简单的核型和中位年龄为65岁,但AML / MDS和PRDM16易位的患者预后较差。迟发性治疗相关的髓样恶性肿瘤似乎过多存在。

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号