title: CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype.
abstract: Pediatric cytogenetically normal acute myeloid leukemia (CN-AML) is a heterogeneous subgroup of myeloid clonal disorders that do not harbor known mutations. To investigate the mutation spectrum of pediatric CN-AML, we performed whole-transcriptome massively parallel sequencing on blasts from 7 CN-AML pediatric patients. In 3 patients we identified a recurrent cryptic inversion of chromosome 16, encoding a CBFA2T3-GLIS2 fusion transcript. In a validation cohort of 230 pediatric CN-AML samples we identified 17 new cases. Among a total of 20 patients with CBFA2T3-GLIS2 fusion transcript out of 237 investigated (8.4%), 10 patients (50%) did not belong to the French-American-British (FAB) M7 subgroup. The 5-year event-free survival for these 20 children was worse than that for the other CN-AML patients (27.4% vs 59.6%; P = .01). These data suggest that the presence of CBFA2T3-GLIS2 fusion transcript is a novel common feature of pediatric CN-AML, not restricted to the FAB M7 subtype, predicting poorer outcome.
authors: Department of Pediatrics, Lalla Seràgnoli, Hematology-Oncology Unit, University of Bologna, Italy.
authors: Riccardo
authors: R
authors: Masetti
authors: Martina
authors: M
authors: Pigazzi
authors: Marco
authors: M
authors: Togni
authors: Annalisa
authors: A
authors: Astolfi
authors: Valentina
authors: V
authors: Indio
authors: Elena
authors: E
authors: Manara
authors: Rita
authors: R
authors: Casadio
authors: Andrea
authors: A
authors: Pession
authors: Giuseppe
authors: G
authors: Basso
authors: Franco
authors: F
authors: Locatelli
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020869:Gene Expression Profiling; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000145:classification / Q000235:genetics* / Q000401:mortality; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D014408:Biomarkers, Tumor; C577580:CBFA2T3-GLIS2 fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger