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Molecular profiling of pediatric and young adult colorectal cancer reveals a distinct genomic landscapes and potential therapeutic avenues.

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Author information

Affiliations

  • 1. Department of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
      Authors
    • Busico A 1
    • Bozzi F 1
    • Silvestri M 1
    • Capone I 1
    • Conca E 1
    • Tamborini E 1
    • Perrone F 1
    • Pruneri G 1
    (8 authors)
  • 2. sc Epigenomics and Biomarkers of Solid Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
      Authors
    • Gasparini P 2
    • Sozzi G 2
    (2 authors)
  • 3. Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
      Authors
    • Rausa E 3
    • Vitellaro M 3, 4, 5
    • Ricci MT 3
    • Signoroni S 3
    (4 authors)
  • 4. Department of Diagnostic Innovation, Biobank, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
      Authors
    • Cattaneo L 4
    • Vitellaro M 3, 4, 5
    (2 authors)
  • 5. Colorectal Surgery Unit, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
      Authors
    • Vitellaro M 3, 4, 5
    • Casanova M 5
    (2 authors)
    • Show all (7)

ORCIDs linked to this article

Scientific Reports, 07 Jun 2024, 14(1):13138
https://doi.org/10.1038/s41598-024-64149-7 PMID: 38849509 

Abstract 

Colorectal cancer (CRC) is a global health concern, and the incidence of early onset (EO) CRC, has an upward trend. This study delves into the genomic landscape of EO-CRC, specifically focusing on pediatric (PED) and young adult (YA) patients, comparing them with adult (AD) CRC. In this retrospective monocentric investigation, we performed targeted next-generation sequencing to compare the mutational profile of 38 EO-CRCs patients (eight PED and 30 YA) to those of a 'control group' consisting of 56 AD-CRCs. Our findings reveal distinct molecular profiles in EO-CRC, notably in the WNT and PI3K-AKT pathways. In pediatrics, we observed a significantly higher frequency of RNF43 mutations, whereas APC mutations were more prevalent in adult cases. These observations suggest age-related differences in the activation of the WNT pathway. Pathway and copy number variation analysis reveal that AD-CRC and YA-CRC have more similarities than the pediatric patients. PED shows a peculiar profile with CDK6 amplification and the enrichment of lysine degradation pathway. These findings may open doors for personalized therapies, such as PI3K-AKT pathway inhibitors or CDK6 inhibitors for pediatric patients. Additionally, the distinct molecular signatures of EO-CRC underscore the need for age-specific treatment strategies and precision medicine. This study emphasizes the importance of comprehensive molecular investigations in EO-CRCs, which can potentially improve diagnostic accuracy, prognosis, and therapeutic decisions for these patients. Collaboration between the pediatric and adult oncology community is fundamental to improve oncological outcomes for this rare and challenging pediatric tumor.

Full text links 

Read article at publisher's site: https://doi.org/10.1038/s41598-024-64149-7

Read article for free, from open access legal sources, via Unpaywall: https://www.nature.com/articles/s41598-024-64149-7.pdfUnpaywall

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