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'Abbate, Doron Tolomeo, Francesca De Astis, Angelo Lonoce, Crocifissa Lo Cunsolo, Dominique Mühlematter, Jacqueline Schoumans, Peter Vandenberghe, Achilles Van Hoof, Orazio Palumbo, Massimo Carella, Tommaso Mazza, Clelia Tiziana Storlazzi

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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.

Original languageEnglish
Article number211
JournalMolecular Cancer
Volume14
Issue number1
DOIs
Publication statusPublished - Dec 16 2015

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Keywords

  • AML
  • Haploinsufficiency
  • MDS
  • Tumor suppressor genes

ASJC Scopus subject areas

  • Cancer Research
  • Molecular Medicine
  • Oncology

Cite this

L'Abbate, A., Tolomeo, D., De Astis, F., Lonoce, A., Cunsolo, C. L., Mühlematter, D., Schoumans, J., Vandenberghe, P., Van Hoof, A., Palumbo, O., Carella, M., Mazza, T., & Storlazzi, C. T. (2015). t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. Molecular Cancer, 14(1), [211]. https://doi.org/10.1186/s12943-015-0484-0