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. Preprints2024, 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
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. Preprints2024, 2024050432. https://doi.org/10.20944/preprints202405.0432.v1
APA Style
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. (2024). The Role of Multigene Panel Next-Generation Sequencing Techniques in Managing Patients with Metastatic Colorectal Carcinoma. Preprints. https://doi.org/10.20944/preprints202405.0432.v1
Chicago/Turabian Style
Matteucci, L., Alessandro Passardi and Alessandro Bittoni. 2024 "The Role of Multigene Panel Next-Generation Sequencing Techniques in Managing Patients with Metastatic Colorectal Carcinoma" Preprints. 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.
Medicine and Pharmacology, Oncology and Oncogenics
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