CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype.
作者： Riccardo Masetti , Martina Pigazzi , Marco Togni , Annalisa Astolfi , Valentina Indio
DOI: 10.1182/BLOOD-2012-11-469825
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摘要: Pediatric cytogenetically normal acute myeloid leukemia (CN-AML) is a heterogeneous subgroup of clonal disorders that do not harbor known mutations. To investigate the mutation spectrum pediatric CN-AML, we performed whole-transcriptome massively parallel sequencing on blasts from 7 CN-AML patients. In 3 patients identified recurrent cryptic inversion chromosome 16, encoding CBFA2T3-GLIS2 fusion transcript. validation cohort 230 samples 17 new cases. Among total 20 with transcript out 237 investigated (8.4%), 10 (50%) did belong to French-American-British (FAB) M7 subgroup. The 5-year event-free survival for these children was worse than other (27.4% vs 59.6%; P = .01). These data suggest presence novel common feature restricted FAB subtype, predicting poorer outcome.
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