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Medical Studies/Studia Medyczne
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4/2024
vol. 40
 
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abstract:
Original paper

Analysis of the multigene molecular panel for colorectal cancer in patients under 50 years of age – the preliminary results of the Polish department

Monika Kozłowska-Geller
1
,
Piotr Lewitowicz
1
,
Monika Wawszczak-Kasza
1
,
Łukasz Nawacki
1
,
Jarosław Matykiewicz
1
,
Stanisław Głuszek
1

  1. Collegium Medicum, Jan Kochanowski University, Kielce, Poland
Medical Studies/Studia Medyczne 2024; 40 (4): 331–335
DOI: https://doi.org/10.5114/ms.2024.144142
Online publish date: 2024/11/14
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Introduction
Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Western countries. In Poland, both in men and women, CRC is a cancer with a high incidence and occupies the 2nd–3rd position among morbidity and deaths. Because of milestones in molecular analysis and deeper insight into molecular pathways, personalised treatment is now possible. Next-generation sequencing (NGS) technology enables panel detection of many genes and therefore identification of people with cancer-predisposing mutations.

Aim of the research
In the current study we analysed molecular studies of colorectal cancer in patients ≤ 50 years of age.

Material and methods
We qualified patients without prior radio- and chemotherapy into the inclusion criteria. We isolated DNA from FFPE. We used the Illumina Hot-Spot Cancer Panel containing 50 genes (700 amplicons).

Results
The median of age was 43 years. The female : male ratio was 1 : 1. We recorded the following mutation frequencies: TP53 76%, APC 57%, KRAS 43%, NRAS 29%, SMAD4 9%, PIK3CA 14%, and FBXW7 5%. We noted the co-occurrence APC/KRAS/TP53 mutation in 20% of patients.

Conclusions
Co-occurrence of mutations was found in 86% of patients, most often 2 or 3. IDH1 was found only in patients with a better prognosis, while the TP53, APC, and KRAS mutations occurred significantly more often in patients with a worse prognosis.

keywords:

colorectal cancer, genomic era, next-generation-sequencing (NGS), personalised medicine
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