Evidence map›Paper›PMID 40222933›Full record

ReviewInternal medicine (Tokyo, Japan)2025

Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.

Kazuki Sekiguchi, Iori Motoo, Takayuki Ando, Akira Noguchi, Rei Fukuda, Keiko Nomura, Yurika Nakayama, Shinya Kajiura, Yuko Ueda, Yuno Goto and 5 more

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Kazuki SekiguchiCenter for Clinical Training, Toyama University Hospital, Japan.
Iori MotooThird Department of Internal Medicine, University of Toyama, Japan.
Takayuki AndoThird Department of Internal Medicine, University of Toyama, Japan.
Akira NoguchiDiagnostic Pathology, University of Toyama, Japan.
Rei FukudaDepartment of Clinical Genetics, Toyama University Hospital, Japan.
Keiko NomuraDepartment of Pediatrics, University of Toyama, Japan.
Yurika NakayamaThird Department of Internal Medicine, University of Toyama, Japan.
Shinya KajiuraThird Department of Internal Medicine, University of Toyama, Japan.
Yuko UedaThird Department of Internal Medicine, University of Toyama, Japan.
Yuno GotoThird Department of Internal Medicine, University of Toyama, Japan.
Seitarou ShimadaThird Department of Internal Medicine, University of Toyama, Japan.
Yusuke TakashimaThird Department of Internal Medicine, University of Toyama, Japan.
Saeko TakahashiThird Department of Internal Medicine, University of Toyama, Japan.
Haruka FujinamiThird Department of Internal Medicine, University of Toyama, Japan.
Ichiro YasudaThird Department of Internal Medicine, University of Toyama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Screening for colorectal cancer (CRC) in individuals with Li-Fraumeni syndrome (LFS) typically recommends initiating colonoscopy at 25 years old. We herein report a case of LFS with dual CRC and liver metastasis diagnosed before the recommended screening age. A 17-year-old boy with a history of sarcoma underwent colonoscopy, revealing 2 advanced CRCs: neuroendocrine carcinoma in the descending colon and adenocarcinoma in the rectum, each displaying distinct histological features. In addition, a TP53 missense mutation (p.His193Arg) was detected by a detailed genetic examination. LFS is associated with a heightened risk of rapid progression to invasive carcinomas due to TP53 variants. Therefore, earlier initiation of colonoscopy screening may be necessary for patients with LFS.

Indexed as

AdenocarcinomaCarcinoma, NeuroendocrineColorectal NeoplasmsLi-Fraumeni SyndromeAdolescentAge of OnsetColonoscopyHumansLiver NeoplasmsMaleMutation, MissenseTumor Suppressor Protein p53TP53 protein, humanTumor Suppressor Protein p53cancer screeningcolorectal cancerLi-Fraumeni syndrome

Identifiers

PMID40222933
PMCPMC12702535

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.