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. 2025 Feb 25;25(1):349.
doi: 10.1186/s12885-025-13745-5.

Comprehensive genomic analysis in sporadic early-onset colorectal adenocarcinoma patients

Ben Ponvilawan  1   2 , Phuwanat Sakornsakolpat  3 , Ananya Pongpaibul  4 , Ekkapong Roothumnong  5   6   7 , Charuwan Akewanlop  3 , Manop Pithukpakorn  5   6   7 , Krittiya Korphaisarn  8
Affiliations

Comprehensive genomic analysis in sporadic early-onset colorectal adenocarcinoma patients

Ben Ponvilawan et al. BMC Cancer. .

Abstract

Background: The incidence of colorectal cancer (CRC) in young adults has increased worldwide. Our study aimed to evaluate genomic alterations in early-onset (aged 15-39 years) sporadic CRC.

Methods: Formalin-fixed, paraffin-embedded tissue samples from 90 patients with histologically confirmed colorectal adenocarcinoma with proficient mismatch repair status from Siriraj Hospital (Bangkok, Thailand) were extracted. Patients with clinically suspected familial adenomatous polyposis were excluded. A 517-gene mutational analysis was performed by next-generation sequencing using the Oncomine Comprehensive Assay Plus kit. The previously reported molecular data in adult-onset CRC from our group were used as a comparator group.

Results: The five most frequently mutated genes were APC (66%), TP53 (51%), KRAS (47%), ARID1A (31%), and KMT2B (31%). When compare with adult-onset, NOTCH1 (11.1% vs. 1.9%), FBXW7 (23.3% vs. 14.8%), PIK3CA (20% vs. 12.1%), and FGFR3 (8.9% vs. 3.7%) mutations were more prevalent in early-onset. No differences were observed in other common mutations, such as TP53, EGFR, KRAS, NRAS and BRAF mutations. An increased prevalence in KRAS codon 12 mutations was also observed in early-onset patients compared to the adult-onset group (38.9% vs. 29.6%).

Conclusions: Overall, the genomic landscape between early- and adult-onset CRC appears similar. However, our study revealed the enrichment of NOTCH1, FBXW7, PIK3CA, and FGFR3 along with KRAS G12 mutations, were more frequent in early-onset compared to adult-onset cases. Further studies with a larger cohort of patients on the comprehensive analysis of genetic/epigenetic signatures are required.

Keywords: Adolescent and young adult; Colorectal cancer; Early onset; Genomic alterations; Molecular characteristic.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was adhered to the Helsinki Declaration and approved by the Siriraj Institutional Review Board of the Siriraj Hospital Faculty of Medicine, Mahidol University, Bangkok, Thailand (EC1 No. 515/2561, Si 538/2018). This study is a retrospective study and does not have adverse effects on the rights and health of the participants, so the requirement of informed consent is waived. At the same time, patients’ privacy and personal identity information are protected. The preparation of the article was followed in accordance with the STROBE guidelines. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Oncoplot of the top 25 genes from early-onset CRC using the comprehensive genomic
Fig. 2
Fig. 2
Gene mutation frequencies from TCGA, adult-onset stage II-III colon cancer patients, and early-onset CRC patients
Fig. 3
Fig. 3
Prevalence of KRAS gene mutations
See this image and copyright information in PMC

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