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International Journal of Clinical Oncology

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18-10-2023 | Familial Adenomatous Polyposis | Original Article

Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis

Authors: Yoshiko Mori, Hideyuki Ishida, Noriyasu Chika, Tetsuya Ito, Kunihiko Amano, Kenichi Chikatani, Yoji Takeuchi, Mitsuhiro Kono, Satoki Shichijo, Akiko Chino, Toshiya Nagasaki, Akinari Takao, Misato Takao, Sakiko Nakamori, Kazuhito Sasaki, Kiwamu Akagi, Tatsuro Yamaguchi, Kohji Tanakaya, Tomita Naohiro, Yoichi Ajioka

Published in: International Journal of Clinical Oncology | Issue 12/2023

Abstract

Background

Colorectal polyp burden is crucial for the management of patients with familial adenomatous polyposis (FAP). However, accurate evaluation of polyp burden is difficult to standardize. This study aimed to examine the possible utility of genotype-oriented management of colorectal neoplasms in patients with FAP.

Methods

Clinicopathological data from genetically proven patients with FAP was analyzed using the database of a nationwide retrospective Japanese multicenter study. The cumulative incidence of CRC was evaluated between different genotype groups. Genotype-1 were defined as germline variants on attenuated FAP-associated regions (codons 1–177, alternative splice site of exon 10 (codon 312), 1581–2843) and Genotype-2 as the other variants. Weibull and Joinpoint analyses were performed to determine the annual percentage changes in CRC risk.

Results

Overall, 69 men and 102 women were included. Forty-eight patients underwent colorectal resection for the first CRC, and five patients underwent resection for first cancer in the remnant anorectal segment after prophylactic surgery. The 70-year cumulative incidence of CRC in all patients was 59.3%. Patients with Genotype-1 (n = 23) demonstrated a lower risk of CRC stages II–IV than those with Genotype-2 (n = 148, P = 0.04). The risk of stage II–IV CRC was estimated to increase markedly at the age of 49 years in the Genotype-1 patients and 34 years in the Genotype-2 patients, respectively.

Conclusions

Different interventional strategies based on genotypes may be proposed for the clinical management of patients with FAP. This policy needs to be validated in further prospective studies focusing on long-term endoscopic intervention and optimal age at prophylactic (procto)colectomy.

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Title: Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis
Authors: Yoshiko Mori
Hideyuki Ishida
Noriyasu Chika
Tetsuya Ito
Kunihiko Amano
Kenichi Chikatani
Yoji Takeuchi
Mitsuhiro Kono
Satoki Shichijo
Akiko Chino
Toshiya Nagasaki
Akinari Takao
Misato Takao
Sakiko Nakamori
Kazuhito Sasaki
Kiwamu Akagi
Tatsuro Yamaguchi
Kohji Tanakaya
Tomita Naohiro
Yoichi Ajioka
Publication date: 18-10-2023
Publisher: Springer Nature Singapore
Keywords: Familial Adenomatous Polyposis
Colectomy
Colectomy
Colorectal Cancer
Colorectal Cancer
Published in: International Journal of Clinical Oncology / Issue 12/2023
Print ISSN: 1341-9625
Electronic ISSN: 1437-7772
DOI: https://doi.org/10.1007/s10147-023-02419-6

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