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

Riccardo Masetti, Martina Pigazzi, Marco Togni, Annalisa Astolfi, Valentina Indio, Elena Manara, Rita Casadio, Andrea Pession, Giuseppe Basso, Franco Locatelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)3469-3472
Number of pages4
JournalBlood
Volume121
Issue number17
DOIs
Publication statusPublished - Apr 25 2013

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

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    Masetti, R., Pigazzi, M., Togni, M., Astolfi, A., Indio, V., Manara, E., Casadio, R., Pession, A., Basso, G., & Locatelli, F. (2013). CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype. Blood, 121(17), 3469-3472. https://doi.org/10.1182/blood-2012-11-469825