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

doi:10.1186/s12943-015-0484-0

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

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-review

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 language	English
Article number	211
Journal	Molecular Cancer
Volume	14
Issue number	1
DOIs	https://doi.org/10.1186/s12943-015-0484-0
Publication status	Published - Dec 16 2015

Keywords

AML
Haploinsufficiency
MDS
Tumor suppressor genes

ASJC Scopus subject areas

Cancer Research
Molecular Medicine
Oncology

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10.1186/s12943-015-0484-0

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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

t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. / L'Abbate, Alberto; Tolomeo, Doron; De Astis, Francesca; Lonoce, Angelo; Cunsolo, Crocifissa Lo; Mühlematter, Dominique; Schoumans, Jacqueline; Vandenberghe, Peter; Van Hoof, Achilles; Palumbo, Orazio ; Carella, Massimo ; Mazza, Tommaso; Storlazzi, Clelia Tiziana.

In: Molecular Cancer, Vol. 14, No. 1, 211, 16.12.2015.

Research output: Contribution to journal › Article › peer-review

L'Abbate, A, Tolomeo, D, De Astis, F, Lonoce, A, Cunsolo, CL, Mühlematter, D, Schoumans, J, Vandenberghe, P, Van Hoof, A, Palumbo, O , Carella, M , Mazza, T & Storlazzi, CT 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, vol. 14, no. 1, 211. https://doi.org/10.1186/s12943-015-0484-0

L'Abbate, Alberto ; Tolomeo, Doron ; De Astis, Francesca ; Lonoce, Angelo ; Cunsolo, Crocifissa Lo ; Mühlematter, Dominique ; Schoumans, Jacqueline ; Vandenberghe, Peter ; Van Hoof, Achilles ; Palumbo, Orazio ; Carella, Massimo ; Mazza, Tommaso ; Storlazzi, Clelia Tiziana. / t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. In: Molecular Cancer. 2015 ; Vol. 14, No. 1.

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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.",

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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

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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.

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

Abstract

Keywords

ASJC Scopus subject areas

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