GATA1公司
髓系白血病
MYB公司
染色体易位
生物
白血病
融合基因
基因
癌症研究
遗传学
转录因子
作者
Alexandra E. Kovach,Elena Zerkalenkova,Ludmila Zemtsova,Aleksandra Borkovskaya,Marina Gaskova,Marat D. Kazanov,А. М. Попов,Л. В. Байдун,Michael Maschan,Alexey Maschan,Paul S. Gaynon,Deepa Bhojwani,Galina Novichkova,Yulia Olshanskaya,Gordana Raca
标识
DOI:10.1016/j.cancergen.2021.11.007
摘要
Pediatric acute myeloid leukemia (AML) is genetically heterogenous (Olsson et al., 2016). t(X;6)(p11;q23) is a rare but recurrent chromosomal translocation in infant AML thought to be associated with male sex and basophilic differentiation (Dastugue et al., 1997). Here we report molecular characterization of AML with t(X;6)(p11;q23);MYB-GATA1 in two female infants and demonstrate preserved GATA1 expression in the sample tested. These findings further debunk a concept that this fusion was restricted to males, in whom it disrupts the only copy of the X-linked GATA1 gene, causing presumable complete loss of GATA1 function. Our data also demonstrate the power and efficiency of RNA sequencing for subclassification of leukemia on a clinically relevant timeline.
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