A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes

Anair Graciela Lema Fernandez, Barbara Crescenzi, Valentina Pierini, Valeria Di Battista, Gianluca Barba, Fabrizia Pellanera, Danika Di Giacomo, Giovanni Roti, Rocco Piazza, Emmalee R. Adelman, Maria E. Figueroa, Cristina Mecucci

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


The unbalanced translocation dic(1;7)(q10;p10) in myelodysplastic syndromes (MDS) is originated by centromeric juxtaposition resulting into 1q trisomy and 7q monosomy. More than half of cases arise after chemo/radio-therapy. To date, given the absence of genes within the centromeric regions, no specific molecular events have been identified in this cytogenetic subgroup. We performed the first comprehensive genetic and epigenetic analysis of MDS with dic(1;7)(q10;p10) compared to normal controls and therapy-related myeloid neoplasms (t-MNs). RNA-seq showed a unique downregulated signature in dic(1;7) cases, affecting more than 80% of differentially expressed genes. As revealed by pathway and gene ontology analyses, downregulation of ATP-binding cassette (ABC) transporters and lipid-related genes and upregulation of p53 signaling were the most relevant biological features of dic(1;7). Epigenetic supervised analysis revealed hypermethylation at intronic enhancers in the dicentric subgroup, in which low expression levels of enhancer putative target genes accounted for around 35% of the downregulated signature. Enrichment of Krüppel-like transcription factor binding sites emerged at enhancers. Furthermore, a specific hypermethylated pattern on 1q was found to underlie the hypo-expression of more than 50% of 1q-deregulated genes, despite trisomy. In summary, dic(1;7) in MDS establishes a specific transcriptional program driven by a unique epigenomic signature.

Original languageEnglish (US)
Pages (from-to)2481-2494
Number of pages14
Issue number10
StatePublished - Oct 1 2019

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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