Multisite analysis of high-grade serous epithelial ovarian cancers identifies genomic regions of focal and recurrent copy number alteration in 3q26.2 and 8q24.3

Sara Ballabio, Ilaria Craparotta, Lara Paracchini, Laura Mannarino, Silvia Corso, Maria Grazia Pezzotta, Martina Vescio, Robert Fruscio, Chiara Romualdi, Emanuele Dainese, Lorenzo Ceppi, Enrica Calura, Silvana Pileggi, Giulia Siravegna, Linda Pattini, Paolo Martini, Martina Delle Marchette, Costantino Mangioni, Antonio Ardizzoia, Antonio PellegrinoFabio Landoni, Maurizio D'Incalci, Luca Beltrame, Sergio Marchini

Research output: Contribution to journalArticlepeer-review


High-grade serous epithelial ovarian cancer (HGS-EOC) is a systemic disease, with marked intra and interpatient tumor heterogeneity. The issue of spatial and temporal heterogeneity has long been overlooked, hampering the possibility to identify those genomic alterations that persist, before and after therapy, in the genome of all tumor cells across the different anatomical districts. This knowledge is the first step to clarify those molecular determinants that characterize the tumor biology of HGS-EOC and their route toward malignancy. In our study, -omics data were generated from 79 snap frozen matched tumor biopsies, withdrawn before and after chemotherapy from 24 HGS-EOC patients, gathered together from independent cohorts. The landscape of somatic copy number alterations depicts a more homogenous and stable genomic portrait than the single nucleotide variant profile. Genomic identification of significant targets in cancer analysis identified two focal and minimal common regions (FMCRs) of amplification in the cytoband 3q26.2 (region α, 193 kb long) and 8q24.3 (region β, 495 kb long). Analysis in two external databases confirmed regions α and β are features of HGS-EOC. The MECOM gene is located in region α, and 15 genes are in region β. No functional data are yet available for the genes in the β region. In conclusion, we have identified for the first time two FMCRs of amplification in HGS-EOC, opening up a potential biological role in its etiopathogenesis.
Original languageItalian
Pages (from-to)2670-2681
Number of pages12
JournalInternational Journal of Cancer
Issue number10
Publication statusPublished - Nov 15 2019

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