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Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan

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Abstract

Background

This study aimed to assess current trends in morbidity and mortality among patients with familial adenomatous polyposis (FAP). These data can be used for optimal surveillance and management of such patients.

Methods

Data (November 2001 and April 2020) of genetically confirmed patients with FAP (n = 87) and their first-degree relatives with FAP phenotype (n = 20) were extracted from the Saitama Medical Center database. Standardized mortality ratio (SMR) and standardized incidence ratio (SIR) were estimated using indirect method.

Results

Overall, 46 men and 61 women were included; the median age at FAP diagnosis was 28.0 years for both. The SMR for all causes of death was 47.7 (95% confidence interval [CI] 19.1–98.2) in women and 26.5 (95% CI 9.73–57.8) in men. The SIR for colorectal cancer (CRC) was 860 (95% CI 518–1340) in women and 357 (95% CI 178–639) in men. The SMR for CRC was 455 (95% CI 93.7–1330) in women and 301 (95% CI 62.0–879) in men. Thirteen patients died during the observation period, and CRC was the leading cause of death (46%). Other causes of death included desmoid tumor (n = 2), small intestinal cancer (n = 2), ovarian cancer (n = 1), duodenal cancer (n = 1), and sepsis (n = 1).

Conclusions

The mortality ratio, estimated using SMR, remained high. CRC was the leading cause of death, whereas almost half of the causes of deaths were extra-colonic tumors. Life-long management of extra-colonic diseases may improve the prognosis in these patients.

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Acknowledgements

We would like to thank Aya Saito and Fumiyo Fukui for their help during genetic testing. We would like to thank Editage (www.editage.com) for English language editing.

Funding

The authors did not received support from any organization for the submitted work.

Author information

Authors and Affiliations

  1. Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan

    Yoshiko Mori, Kunihiko Amano, Kenichi Chikatani, Tetsuya Ito, Okihide Suzuki, Satoshi Hatano, Noriyasu Chika, Azusa Yamamoto, Keiichiro Ishibashi, Takeo Iwama & Hideyuki Ishida

  2. Department of Clinical Genetics, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan

    Yoshiko Mori, Okihide Suzuki, Nao Kamae & Hideyuki Ishida

  3. Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan

    Hidetaka Eguchi & Yasushi Okazaki

Authors
  1. Yoshiko Mori
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  2. Kunihiko Amano
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  14. Hideyuki Ishida
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Contributions

HI designed and conceptualized this study. KA, OS, KC, NK, HS, AY, NC, and KI collected data. YM analyzed the data. T Ito, OS, KC, KA, SH, NC, AY, KI, T Iwama, and HI provided medical care for the patients. YM, TI, and HI interpreted the data and drafted the manuscript. HE and YO performed genetic analysis and interpretation. All authors have read and approved the final manuscript.

Corresponding author

Correspondence to Yoshiko Mori.

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Mori, Y., Amano, K., Chikatani, K. et al. Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Int J Clin Oncol 27, 1034–1042 (2022). https://doi.org/10.1007/s10147-022-02146-4

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  • DOI: https://doi.org/10.1007/s10147-022-02146-4

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