eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
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1/2024
vol. 28
 
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abstract:
Original paper

Exploring RAS mutation incidence and temporal heterogeneity in metastatic colorectal cancer patients – a single-institution experience utilising circulating tumour DNA

George Zarkavelis
1
,
Anna Lea Amylidi
1
,
Nanteznta Torounidou
2
,
Melina Yerolatsite
2
,
Athanasia Keravasili
2
,
Varvara Keramisanou
2
,
Davide Mauri
1

  1. Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
  2. Department of Medical Oncology, University Hospital of Ioannina, Ioannina, Greece
Contemp Oncol (Pozn) 2024; 28 (1): 45–50
DOI: https://doi.org/10.5114/wo.2024.138899
Online publish date: 2024/04/17
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Introduction:
Colorectal cancer (CRC) remains a significant global health challenge, ranking among the leading causes of neoplastic mortality. Despite transformative therapeutic advances, a considerable proportion of patients are diagnosed with metastatic disease, and 15–30% of those initially presenting with early-stage CRC eventually experience recurrence. Comprehensive molecular testing, especially the evaluation of microsatellite instability and mutations in KRAS/NRAS or BRAF genes, is essential upon diagnosis of stage IV disease, guiding treatment decisions.

Material and methods:
This manuscript explores the mutational landscape of KRAS and NRAS in patients with CRC, employing digital polymerase chain reaction (PCR) BEAMing for the detection of mutations in liquid biopsy. Our study enrolled patients with histologically confirmed CRC and stage IV disease, focusing on identifying mutations in KRAS and NRAS genes during various stages of therapy.

Results:
Evaluating baseline, midline, and progression samples, we found that 66.6% maintained consistent mutational status post-disease progression, while 33.3% exhibited a shift in mutational status. The application of techniques with high sensitivity, such as BEAMing Digital PCR, is pivotal for accurate circulating tumour DNA (ctDNA) mutation detection. The study underscores the significance of continuous molecular monitoring in guiding therapeutic decisions for patients with metastatic CRC.

Conclusions:
Our findings contribute to our understanding of the evolving mutational landscape and the potential clinical implications of ctDNA ana- lysis in the era of personalised cancer medicine.

keywords:

circulating tumour DNA, metastatic colorectal cancer, liquid biopsy, molecular monitoring
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