t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders

• DOI: 10.1186/s12943-015-0484-0
• Publication Date: 2015-12-15T22:24:36Z
• Authors: Alberto L’Abbate; Doron Tolomeo; Francesca De Astis; Angelo Lonoce; Crocifissa Lo Cun...; Dominique Mühlema...; Jacqueline Schoumans; Peter Vandenberghe; Achilles Van Hoof; Orazio Palumbo; Massimo Carella; Tommaso Mazza; Clelia Tiziana St...
• Keywords: RUNX1; Breakpoint

Through a combined approach integrating RNA-Seq, SNP-array, FISH and PCR techniques, we identified two novel t(15;21) translocations leading to the inactivation of RUNX1 its partners SIN3A TCF12. One is complex t(15;21)(q24;q22), with both breakpoints mapped at nucleotide level, joining UBL7-AS1 in patient myelodysplasia. The other recurrent t(15;21)(q21;q22), juxtaposing TCF12, an opposite transcriptional orientation, three myeloid leukemia cases. Since our transcriptome analysis indicated significant number differentially expressed genes associated translocations, speculate important pathogenetic role for these alterations involving RUNX1.