Targeted next-generation sequencing identifies genomic abnormalities potentially driving the prognosis of early-stage invasive lobular breast carcinoma patients stratified according to a validated clinico-pathological model

Luisa Carbognin, Michele Simbolo, Anna Caliò, Caterina Vicentini, Pietro Delfino, Isabella Sperduti, Matteo Fassan, Francesco Schettini, Maria Vittoria Dieci, Gaia Griguolo, Sara Pilotto, Elena Fiorio, Grazia Arpino, Valentina Guarneri, Sabino De Placido, Pierfranco Conte, Erminia Manfrin, Matteo Brunelli, Giovanni Scambia, Aldo ScarpaGiampaolo Tortora, Emilio Bria

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: The clinico-pathological and molecular factors that drive the prognosis of invasive lobular breast carcinoma (ILC) are not entirely explored. In this regard, the development and validation of a prognostic model for ILC and the investigation of the distribution of molecular abnormalities (focusing on CDK4/6 alterations) according to prognosis were the aims of this study. Patients and methods: Two clinico-pathological multi-center data-sets of early-stage ILC patients (Training/Validation Set, TS/VS) were gathered. A 3-class model was developed according to the multivariate analysis for disease-free-survival (DFS) and externally validated. Mutational, copy number variation and transcriptomic analyses by targeted next generation sequencing (NGS) were performed (and validated with quantitative PCR) in an explorative cohort of patients with poor and good prognosis. Results: Data from overall 773 patients (TS/VS: 491/282) were gathered. The developed model significantly discriminated low/intermediate/high risk in the TS (10-years DFS: 76.3%/67.6%/39.8%, respectively, p
Original languageEnglish
Pages (from-to)56-63
Number of pages8
JournalBreast
Volume50
DOIs
Publication statusPublished - Apr 2020

Keywords

  • Breast cancer
  • CDK4
  • Lobular
  • Next-generation sequencing
  • Prognosis
  • Transcriptome analysis

Fingerprint Dive into the research topics of 'Targeted next-generation sequencing identifies genomic abnormalities potentially driving the prognosis of early-stage invasive lobular breast carcinoma patients stratified according to a validated clinico-pathological model'. Together they form a unique fingerprint.

Cite this