Evidence map›Paper›PMID 38849509›Full record

ArticleScientific reports2024

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

A Busico, P Gasparini, E Rausa, L Cattaneo, F Bozzi, M Silvestri, I Capone, E Conca, E Tamborini, F Perrone and 11 more

Abstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Beyond the biopsy: the new era of non-invasive staging and biomarkers in colorectal cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  4. Molecular Profiling of Olfactory Neuroblastoma Using the AACR Project GENIE Database.Journal of neurological surgery. Part B, Skull base · 2026
    Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. Review
  13. Review
  14. Article
  15. Early Onset Colorectal Cancer: Molecular Underpinnings Accelerating Occurrence.Cellular and molecular gastroenterology and hepatology · 2025
    Review
  16. Article
  17. Young Onset Colorectal Cancer.South Asian journal of cancer · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

A Busico *Department of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
P Gasparini *sc Epigenomics and Biomarkers of Solid Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy. patrizia.gasparini@istitutotumori.mi.it.
E Rausa *Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
L CattaneoDepartment of Diagnostic Innovation, Biobank, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
F BozziDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M SilvestriDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
I CaponeDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
E ConcaDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
E TamboriniDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
F PerroneDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M VitellaroUnit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M T RicciUnit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M CasanovaColorectal Surgery Unit, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
S Chiaravallisc Pediatric Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
L Bergamaschisc Pediatric Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M Massiminosc Pediatric Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
M MilioneDepartment of Diagnostic Innovation, Pathology Unit 1, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
G Sozzisc Epigenomics and Biomarkers of Solid Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
G PruneriDepartment of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
A Ferrarisc Pediatric Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.
S SignoroniUnit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale Dei Tumori Di Milano, Milano, Italy.

Funding

Esselunga V20ESLFundacion Juegaterapia INT 81/19
6 · The paper itself

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.

Indexed as

Colorectal NeoplasmsMutationAdolescentAdultChildChild, PreschoolDNA Copy Number VariationsFemaleGenomicsHigh-Throughput Nucleotide SequencingHumansMaleRetrospective StudiesWnt Signaling PathwayYoung Adult

Identifiers

PMID38849509
PMCPMC11161608

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.