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 of RUNX1 and its partners SIN3A and TCF12. One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia. The other is a recurrent t(15;21)(q21;q22), juxtaposing RUNX1 and TCF12, 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 involving RUNX1.Electronic supplementary materialThe online version of this article (doi:10.1186/s12943-015-0484-0) contains supplementary material, which is available to authorized users.
Highlights
Main text Translocations involving RUNX1 are known to decrease the function of the encoded protein in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) [1]
For those involving chromosome 15, SV2B was the only RUNX1 partner gene identified in AML [2]
We report on two novel t(15;21) alterations leading to the concurrent disruption of RUNX1 and SIN3A or transcription factor 12 (TCF12) (Additional file 1: Table S1)
Summary
Open Access t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. Alberto L’Abbate1†, Doron Tolomeo1†, Francesca De Astis, Angelo Lonoce, Crocifissa Lo Cunsolo, Dominique Mühlematter, Jacqueline Schoumans, Peter Vandenberghe, Achilles Van Hoof, Orazio Palumbo, Massimo Carella, Tommaso Mazza and Clelia Tiziana Storlazzi1*
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
