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Multi-gene custom panels for the characterisation of metastatic colorectal carcinoma in clinical practice: express the role of PIK3CA mutations.

Authors
  • de Biase, Dario1, 2
  • Malapelle, Umberto3
  • De Leo, Antonio2, 4
  • Maloberti, Thais4
  • Visani, Michela4
  • Pisapia, Pasquale5
  • Acquaviva, Giorgia2, 4
  • Pepe, Francesco6
  • Russo, Gianluca5
  • Iaccarino, Antonino5
  • Pession, Annalisa7, 2
  • Tallini, Giovanni2, 4
  • Troncone, Giancarlo5
  • 1 Department of Pharmacy and Biotechnology, Molecular Diagnostic Unit, University of Bologna, Bologna, Italy [email protected] [email protected] , (Italy)
  • 2 Division of Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. , (Italy)
  • 3 Department of Public Health, University Federico II of Naples, Napoli, Italy [email protected] [email protected] , (Italy)
  • 4 Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), Molecular Diagnostic Unit, University of Bologna, Azienda USL di Bologna, Bologna, Italy. , (Italy)
  • 5 Department of Public Health, University Federico II of Naples, Napoli, Italy. , (Italy)
  • 6 Sanità Pubblica, University of Naples Federico II, Napoli, Italy. , (Italy)
  • 7 Department of Pharmacy and Biotechnology, Molecular Diagnostic Unit, University of Bologna, Bologna, Italy. , (Italy)
Type
Published Article
Journal
Journal of Clinical Pathology
Publisher
BMJ
Publication Date
Jul 01, 2022
Volume
75
Issue
7
Pages
488–492
Identifiers
DOI: 10.1136/jclinpath-2021-207468
PMID: 33820865
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

In metastatic colorectal carcinomas (mCRC), RAS/RAF genes mutations are first tested to determine the eligibility for anti-EGFR (Epidermal Growth Factor Receptor) therapy in combination with conventional cytotoxic agents. Recent advancements in next-generation sequencing (NGS) have highlighted the potential of multi-gene panels. This multi-gene analysis may provide useful information for the molecular characterisation of mCRC, other than the status of RAS/RAF genes. Aim of this study was to evaluate the feasibility of two NGS custom multi-gene panels in the characterisation of CRC cases and evaluating the relevance of PIK3CA mutation in a routine cohort of consecutive CRC cases. A total of 961 formalin-fixed and paraffin-embedded specimens from two medical centres (Bologna and Naples) were analysed using two lab-developed NGS multi-gene panels. KRAS mutations (56.2%) were the more frequent alterations observed in our cohort. Intriguingly, PIK3CA mutations were more frequent (16.8%) than variants observed in the other two genes nowadays analysed in CRC clinical practice (NRAS and BRAF, 4.2% and 9.6%, respectively). Moreover, in more than 10% of samples, coexistent mutations were detected in our cohort of CRC. Our study demonstrates the feasibility and efficacy of lab-developed targeted multi-gene NGS panels in the clinical practice of CRC. Moreover, the data lead to hypothesise that PIK3CA mutations, together with those of RAS/BRAF, worth to be further investigated in clinical CRC specimens. © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

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