vai al contenuto della pagina vai al menu di navigazione

CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype

Blood 2013 Feb. 13


Masetti R, Pigazzi M, Togni M, Astolfi A, Indio V, Manara E, Casadio R, Pession A , Basso G, Locatelli F.


Department of Pediatrics, "Lalla Seragnoli", Hematology-Oncology Unit, University of Bologna, Italy


Pediatric cytogenetically-normal acute myeloid leukemia (CN-AML) is a heterogeneous subgroup of myeloid clonal disorders not harbouring known mutations. To investigate the mutation spectrum of pediatric CN-AML, we performed whole-transcriptome massively-parallel sequencing on bone marrow leukemia blasts of 7 CN-AML pediatric patients, identifying in 3 of them a recurrent cryptic inversion of chromosome 16, encoding a CBFA2T3-GLIS2 fusion transcript. We then screened a validation cohort of 230 pediatric CN-AML samples, identifying 17 new cases. Thus, we found 20 patients carrying the CBFA2T3-GLIS2 fusion transcript out of 237 investigated (8.4%); 10 of them (50%) did not belong to the FAB M7 subgroup. The 5-year event-free survival of these 20 children was worse than that of the other CN-AML patients (27.4% vs 59.6%, P=0.01). These data suggest that the presence of CBFA2T3-GLIS2 fusion transcript is a novel common feature of pediatric CN-AML, not restricted only to the FAB M7 subtype, predicting poorer outcome.

Full paper