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; Seitarou Shimada; Yusuke Takashima; Saeko Takahashi; Haruka Fujinami; Ichiro Yasuda

doi:10.2169/internalmedicine.4945-24

Kazuki Sekiguchi, Iori Motoo, Takayuki Ando, Akira Noguchi, Rei Fukuda, Keiko Nomura, Yurika Nakayama, Shinya Kajiura, Yuko Ueda, Yuno Goto, Seitarou Shimada, Yusuke Takashima, Saeko Takahashi, Haruka Fujinami, Ichiro Yasuda

Author information

Kazuki Sekiguchi
Center for Clinical Training, Toyama University Hospital, Japan
Iori Motoo
Third Department of Internal Medicine, University of Toyama, Japan
Takayuki Ando
Third Department of Internal Medicine, University of Toyama, Japan
Akira Noguchi
Diagnostic Pathology, University of Toyama, Japan
Rei Fukuda
Department of Clinical Genetics, Toyama University Hospital, Japan
Keiko Nomura
Department of Pediatrics, University of Toyama, Japan
Yurika Nakayama
Third Department of Internal Medicine, University of Toyama, Japan
Shinya Kajiura
Third Department of Internal Medicine, University of Toyama, Japan
Yuko Ueda
Third Department of Internal Medicine, University of Toyama, Japan
Yuno Goto
Third Department of Internal Medicine, University of Toyama, Japan
Seitarou Shimada
Third Department of Internal Medicine, University of Toyama, Japan
Yusuke Takashima
Third Department of Internal Medicine, University of Toyama, Japan
Saeko Takahashi
Third Department of Internal Medicine, University of Toyama, Japan
Haruka Fujinami
Third Department of Internal Medicine, University of Toyama, Japan
Ichiro Yasuda
Third Department of Internal Medicine, University of Toyama, Japan

Keywords: colorectal cancer, Li-Fraumeni syndrome, cancer screening

JOURNAL OPEN ACCESS Advance online publication

Article ID: 4945-24

DOI https://doi.org/10.2169/internalmedicine.4945-24

Details

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.

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