Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

The Role of Multigene Panel Next-Generation Sequencing Techniques in Managing Patients with Metastatic Colorectal Carcinoma

Laura Matteucci
,
Francesco Giulio Sullo
,
Chiara Gallio
,
Luca Esposito
,
Margherita Muratore
,
Ilario Giovanni Rapposelli
ORCID logo ,
Daniele Calistri
ORCID logo ,
Elisabetta Petracci
,
Claudia Rengucci
,
Laura Capelli
ORCID logo ,
Elisa Chiadini
ORCID logo ,
Paola Ulivi
,
Alessandro Passardi
* ORCID logo ,
Alessandro Bittoni
ORCID logo
Version 1 : Received: 7 May 2024 / Approved: 7 May 2024 / Online: 8 May 2024 (13:34:55 CEST)

How to cite: Matteucci, L.; Sullo, F. G.; Gallio, C.; Esposito, L.; Muratore, M.; Rapposelli, I. G.; Calistri, D.; Petracci, E.; Rengucci, C.; Capelli, L.; Chiadini, E.; Ulivi, P.; Passardi, A.; Bittoni, A. The Role of Multigene Panel Next-Generation Sequencing Techniques in Managing Patients with Metastatic Colorectal Carcinoma. Preprints 2024, 2024050432. https://doi.org/10.20944/preprints202405.0432.v1 Matteucci, L.; Sullo, F. G.; Gallio, C.; Esposito, L.; Muratore, M.; Rapposelli, I. G.; Calistri, D.; Petracci, E.; Rengucci, C.; Capelli, L.; Chiadini, E.; Ulivi, P.; Passardi, A.; Bittoni, A. The Role of Multigene Panel Next-Generation Sequencing Techniques in Managing Patients with Metastatic Colorectal Carcinoma. Preprints 2024, 2024050432. https://doi.org/10.20944/preprints202405.0432.v1

Abstract

The efficacy and cost-effectivness of Multigene Panel Next-Generation Sequencing (NGS) in directing patients towards genomically matched therapies remains uncertain. This study investigated metastatic colorectal cancer (mCRC) patients who underwent NGS analysis on formalin-fixed paraffin-embedded tumor samples. Data from 179 patients were analyzed, revealing no mutations in 39 patients (21.8%), one mutation in 83 patients (46.4%), and two or more mutations in 57 patients (31.8%). KRAS mutations were found in 87 patients (48.6%), including KRAS G12C mutations in 5 patients (2.8%), PIK3CA mutations in 40 patients (22.4%), BRAF mutations in 26 patients (14.5%). Less common mutations were identified: ERBB2 in 5 patients (2.8%) and SMO in 4 patients (2.2%). Additionally, MAP2K1, CTNNB1, and MYC were mutated in 3 patients (2.4%). Two mutations (1.1%) were observed in ERBB3, RAF1, MTOR, JAK1, and FGFR2. No significant survival differences were observed based on mutation numbers. 40% of patients had druggable molecular alterations, but only 1.1% received genomically guided treatment, suggesting limited application in standard practice. Despite this, expanded gene panel testing can identify actionable mutations, aiding personalized treatment strategies in metastatic CRC, although current eligibility for biomarker-guided trials remains limited.

Keywords

metastatic colorectal cancer; multigene panel; next-generation sequencing; molecular biomarkers; druggable targets

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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