KMT2A::NRIP3融合基因在B细胞急性淋巴细胞白血病的第一例报告中
Bingqing Huang1,2, Yujiao Jia1,2, Benquan Qi1
1State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.
Journal of pediatric hematology/oncology
|November 5, 2025
概括
在B级急性淋巴细胞白血病患者中发现了一种罕见的KMT2A::NRIP3融合基因,通过全转录组测序识别出来. 这种由11号染色体逆转引起的融合,也显示出同时发生的MYC突变.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 血液学 血液学 血液学
背景情况:
- 通常,KMT2A重排是由11号染色体上的平衡转位引起的.
- 11号染色体内的删除或反转是KMT2A重排的较少常见原因.
研究的目的:
- 在B级急性淋巴细胞白血病 (B-ALL) 中报告一种罕见的KMT2A::NRIP3融合病例.
- 为了研究这种罕见的融合阳性白血病的遗传机制和相关突变.
主要方法:
- 全转录组测序 (WTS) 用于识别基因融合.
- 全基因组测序 (WGS) 用于确定断点位置和识别突变.
- 对B-ALL中KMT2A::NRIP3融合的分析和与急性髓性白血病 (AML) 数据的比较.
主要成果:
- 在B-ALL患者中发现了一种罕见的KMT2A::NRIP3融合,源于染色体11的周心逆转.
- 聚变断点位于KMT2A内8和NRIP3内1的深处.
- 同时在MYC基因中发现了一种致病热点突变 (p.Pro74Leu).
- 观察到NRIP3可能会降低AML中的Cyclin D1 (CCND1) 的下调,但不是B-ALL.
结论:
- 虽然KMT2A::NRIP3融合基因很少见,但可以在儿科急性髓性白血病 (AML) 和B级急性淋巴细胞白血病 (B-ALL) 患者中发生.
- 这一案例凸显了导致KMT2A重组的遗传复杂性和多样化机制.
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