PT  - JOURNAL ARTICLE
AU  - Dario de Biase
AU  - Umberto Malapelle
AU  - Antonio De Leo
AU  - Thais Maloberti
AU  - Michela Visani
AU  - Pasquale Pisapia
AU  - Giorgia Acquaviva
AU  - Francesco Pepe
AU  - Gianluca Russo
AU  - Antonino Iaccarino
AU  - Annalisa Pession
AU  - Giovanni Tallini
AU  - Giancarlo Troncone
TI  - Multi-gene custom panels for the characterisation of metastatic colorectal carcinoma in clinical practice: express the role of <em>PIK3CA</em> mutations
AID  - 10.1136/jclinpath-2021-207468
DP  - 2022 Jul 01
TA  - Journal of Clinical Pathology
PG  - 488--492
VI  - 75
IP  - 7
4099  - http://jcp.bmj.com/content/75/7/488.short
4100  - http://jcp.bmj.com/content/75/7/488.full
SO  - J Clin Pathol2022 Jul 01; 75
AB  - Aims 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.Methods 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.Results 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.Conclusions 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.All data relevant to the study are included in the article or uploaded as supplementary information.