TY - JOUR
T1 - t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
AU - L'Abbate, Alberto
AU - Tolomeo, Doron
AU - De Astis, Francesca
AU - Lonoce, Angelo
AU - Cunsolo, Crocifissa Lo
AU - Mühlematter, Dominique
AU - Schoumans, Jacqueline
AU - Vandenberghe, Peter
AU - Van Hoof, Achilles
AU - Palumbo, Orazio
AU - Carella, Massimo
AU - Mazza, Tommaso
AU - Storlazzi, Clelia Tiziana
PY - 2015/12/16
Y1 - 2015/12/16
N2 - 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.
AB - 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.
KW - AML
KW - Haploinsufficiency
KW - MDS
KW - Tumor suppressor genes
UR - http://www.scopus.com/inward/record.url?scp=84949780692&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84949780692&partnerID=8YFLogxK
U2 - 10.1186/s12943-015-0484-0
DO - 10.1186/s12943-015-0484-0
M3 - Article
C2 - 26671595
AN - SCOPUS:84949780692
VL - 14
JO - Molecular Cancer
JF - Molecular Cancer
SN - 1476-4598
IS - 1
M1 - 211
ER -