T(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: L'Abbate, Alberto; Tolomeo, Doron; De Astis, Francesca; Lonoce, Angelo; Cunsolo, Crocifissa; Mühlematter, Dominique; Schoumans, Jacqueline; Vandenberghe, Peter; Van Hoof, Achilles; Palumbo, Orazio; Carella, Massimo; Mazza, Tommaso; Storlazzi, Clelia
• Is Part Of: Molecular cancer. Volume 14:Issue 1(2015)
• Page Start: 1
• Page End: 5
• Publication Date: 2015-12
• Subjects: Haploinsufficiency -- Tumor suppressor genes -- AML -- MDS; Cancer -- Molecular aspects -- Periodicals; 616.994
• DOI: 10.1186/s12943-015-0484-0
• Languages: English
• ISSNs: 1476-4598

Abstract

Abstract 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 ofRUNX1 and its partnersSIN3A andTCF12 . One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joiningRUNX1 toSIN3A andUBL7-AS1 in a patient with myelodysplasia. The other is a recurrent t(15;21)(q21;q22), juxtaposingRUNX1 andTCF12, with an opposite transcriptional orientation, in three myeloid leukemia cases. Since our transcriptome analysis indicated a significant number of differentially expressed genes associated with both translocations, we speculate an important pathogenetic role for these alterations involvingRUNX1 .