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First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia
Cancer Genetics ( IF 1.4 ) Pub Date : 2020-09-22 , DOI: 10.1016/j.cancergen.2020.09.004
Sneha Tandon , Mary Shago , Scott Davidson , Nisha Kanwar , Fabio Fuligni , Adam Shlien , James Whitlock , Anita Villani , Oussama Abla

Infant acute lymphoblastic leukemia (ALL) comprises 2.5%–5% of pediatric ALL with inferior survival compared to older children. A majority of infants (80%) with ALL harbor KMT2A gene rearrangement, which portends a poor prognosis. Approximately 94 different partner genes have been identified to date. The common rearrangements include t(4;11)(q21;q23)KMT2A-AFF1,t(11;19) (q23;p13.3)KMT2A-MLLT1 and t(9;11)(p22;q23)KMT2A-MLLT3. We report a novel translocation t(5;11)(q35;q23)KMT2A-MAML1 in newly diagnosed infant precursor B-ALL. Long-term follow-up and a larger number of patients are needed to better understand its prognostic significance.



中文翻译:

t(5; 11)KMT2A-MAML1融合在新生婴儿急性淋巴细胞白血病中的首次报道

与年龄较大的儿童相比,婴儿急性淋巴细胞白血病(ALL)占儿童ALL的2.5%–5%。患有ALL的大多数婴儿(80%)具有KMT2A基因重排,预后不良。迄今为止,已鉴定出约94种不同的伴侣基因。常见的重排包括t(4; 11)(q21; q23)KMT2A-AFF1,t(11; 19)(q23; p13.3)KMT2A-MLLT1和t(9; 11)(p22; q23)KMT2A-MLLT3。我们报告了新诊断的婴儿前体B-ALL中的新型易位t(5; 11)(q35; q23)KMT2A-MAML1。需要长期随访和大量患者以更好地了解其预后意义。

更新日期:2020-09-29
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