Abstract
Purpose
To investigate the incidence of colorectal cancer among familial adenomatous polyposis (FAP) patients by phenotype using the latest modalities.
Methods
We collected data on 303 patients who underwent surgery for FAP at one of 23 institutions between 2000 and 2012. The incidence of colorectal cancer was investigated by phenotype.
Results
Colorectal cancer was diagnosed in 115 (38.0 %) of the 303 patients. Overall, colorectal cancer with the attenuated, sparse, and profuse phenotypes was diagnosed at 30, 31, and 28 years of age, respectively, in 10 % of the patients and at 59, 48, and 41 years of age, respectively, in 50 % of the patients (P = 0.013). The patients with colorectal cancer were older than those without colorectal cancer for all phenotypes. The optimal cut-off age for predicting the development of colorectal cancer in the attenuated, sparse, and profuse phenotypes was 46, 31, and 27 years, respectively.
Conclusions
Patients with profuse and sparse phenotypes should undergo prophylactic proctocolectomy before their mid-to-late 20 s. On the other hand, the timing and type of surgery for patients with attenuated FAP (AFAP) should be decided individually with reference to the colonoscopic findings.
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References
Kumamoto K, Ishida H, Suzuki O, Tajima Y, Chika N, Kuwabara K, et al. Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population. Surg Today. 2016;46:713–20.
Murata M, Utsunomiya J, Iwama T, Tanimura M. Frequency of adenomatosis coli in Japan. Jinrui Idengaku Zasshi. 1981;26:19–30.
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589–600.
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991;253:661–5.
Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirio LN, Kerber RA, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology. 2004;127:444–51.
Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, et al. Phenotypic expression of disease in families that have mutations in the 5’ region of the adenomatous polyposis coli gene. Ann Intern Med. 1997;126:514–9.
Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum. 2002;45:127–34 (discussion 34–6).
Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavalieri J, Lynch J, et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995;76:2427–33.
Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology. 1991;100:1658–64.
Wada Y, Kashida H, Kudo SE, Misawa M, Ikehara N, Hamatani S. Diagnostic accuracy of pit pattern and vascular pattern analyses in colorectal lesions. Dig Endosc. 2010;22:192–9.
Kudo S, Rubio CA, Teixeira CR, Kashida H, Kogure E. Pit pattern in colorectal neoplasia: endoscopic magnifying view. Endoscopy. 2001;33:367–73.
Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704–13.
Olsen KO, Juul S, Bulow S, Jarvinen HJ, Bakka A, Bjork J, et al. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg. 2003;90:227–31.
Iwama T, Tamura K, Morita T, Hirai T, Hasegawa H, Koizumi K, et al. A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol. 2004;9:308–16.
Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, et al. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res. 1992;52:4055–7.
Bulow S. Results of national registration of familial adenomatous polyposis. Gut. 2003;52:742–6.
Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75:951–7.
Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene. Gut. 1998;43:548–52.
Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, et al. Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet. 2007;15:1034–42.
Nieuwenhuis MH, Mathus-Vliegen LM, Slors FJ, Griffioen G, Nagengast FM, Schouten WR, et al. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2007;5:374–8.
Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol. 2007;61:153–61.
Hata K, Yamamoto Y, Kiyomatsu T, Tanaka T, Kazama S, Nozawa H, et al. Hereditary gastrointestinal cancer. Surg Today. 2015 [Epub ahead of print].
Acknowledgments
We acknowledge all the patients in this study and their families. In addition to the investigators in the author list, we acknowledge the following investigators who contributed to this study: Koji Komori, Department of Gastroenterological Surgery Aichi Cancer Center Hospital, Aichi; Kenjiro Kotake, Department of Surgery, Tochigi Cancer Center, Tochigi; Takeshi Nagasaka, Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama; Hirotoshi Hasegawa, Department of Surgery, Keio University School of Medicine, Tokyo; Motoi Koyama, Department of Gastroenterological Surgery, Hirosaki University Graduate School of Medicine, Aomori; Yoshito Akagi, Department of Surgery, Kurume University School of Medicine, Kurume, Fukuoka; Toshimasa Yatsuoka, Department of Gastroenterological Surgery, Saitama Cancer Center, Saitama; Masataka Ikeda, Department of Surgery, National Hospital Organization, Osaka National Hospital, Osaka; Kensuke Kumamoto, Department of Organ Regulatory Surgery, Fukushima Medical University School of Medicine, Fukushima; Kiyotaka Kurachi, Department of Surgery 2, Hamamatsu University School of Medicine, Shizuoka; Kohji Tanakaya, Department of Surgery, Iwakuni Clinical Center, Yamaguchi; Kazuhiko Yoshimatsu, Department of Surgery, Tokyo Women’s Medical University Medical Center East, Tokyo. This study was supported in part by a Grant-in-aid for Cancer Research from the Ministry of Health, Labor, and Welfare, and by the Japanese Society for Cancer of the Colon and Rectum.
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Hirotoshi Kobayashi and his co-authors have no conflicts of interest.
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Kobayashi, H., Ishida, H., Ueno, H. et al. Association between the age and the development of colorectal cancer in patients with familial adenomatous polyposis: a multi-institutional study. Surg Today 47, 470–475 (2017). https://doi.org/10.1007/s00595-016-1398-1
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DOI: https://doi.org/10.1007/s00595-016-1398-1