Data on long-term outcomes of familial adenomatous polyposis (FAP) are unclear in Japan because a nationwide registry system is lacking. We assessed overall survival, incidence of neoplasms, fecal incontinence, and postoperative follow-up status of patients with FAP treated surgically in our hospital.
In total, 154 patients with FAP who underwent radical surgery from 1981 to 2017 in our department were available for the questionnaire. Sixty-five patients, 36 of whom were followed at our hospital, were assessed using clinical records and the questionnaire.
The median follow-up time was 187 months (interquartile range, 93.5–296 months). The median age at surgery was 36 years (range, 12–69 years). The 5-, 10-, 15-, and 20-year overall survival rate was 100%, 98%, 95%, and 89%, respectively. All five deaths were caused by diseases other than colorectal cancer. FAP-related neoplasms comprised 23 colorectal cancers, five duodenal cancers, three gastric cancers, five thyroid cancers, two ileal pouch cancers, and nine desmoid tumors. The incidence of desmoid tumors was significantly associated with the operation date. The duration from radical surgery to neoplasm onset significantly differed by neoplasm type. Forty-five of 54 patients (excluding those who died or underwent ileostomy) developed fecal incontinence (median Wexner score of 8). Surgical procedures involving hand-sewn sutures with rectal mucosal stripping were significantly associated with fecal incontinence and the Wexner score. Fifty-eight of the 60 surviving patients underwent follow-up examinations.
Overall survival was favorable. Fecal incontinence depended on the surgical procedures. Most patients continued to receive follow-up examinations.
No. 3112 by Institutional Review Board of Hyogo College of Medicine
This is a preview of subscription content, access via your institution.
Buy single article
Instant access to the full article PDF.
Tax calculation will be finalised during checkout.
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
Tax calculation will be finalised during checkout.
Nishisho I, Nakamura Y, Miyoshi Y et al (1991) Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665–669
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D (1991) Identification of FAP locus genes from chromosome 5q21. Science 253:661–665
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589–600
Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirio LN, Kerber RA, Kuwada SK, Neklason DW, Disario JA, Lyon E, Hughes JP, Chey WY, White RL (2004) Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology. 127:444–451
Petersen GM, Slack J, Nakamura Y (1991) Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 100:1658–1664
Stoffel EM, Mangu PB, Gruber SB et al (2015) American Society of Clinical Oncology; European Society of Clinical Oncology. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 33:209–217
Syngal S, Brand RE, Church JM, American College of Gastroenterology et al (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223–262
Utsunomiya J, Iwama T, Imajo M et al (1980) Total colectomy, mucosal proctectomy, and ileoanal anastomosis. Dis Colon Rectum 23:459–466
Fujita S, Kusunoki M, Shoji Y, Owada T, Utsunomiya J (1992) Quality of life after total proctocolectomy and ileal J-pouch-anal anastomosis. Dis Colon Rectum 35:1030–1039
Utsunomiya J (2019) My life full of “serendipity” for the J-pouch. Dis Colon Rectum 62:650–658
Ganschow P, Pfeiffer U, Hinz U, Leowardi C, Herfarth C, Kadmon M (2010) Quality of life ten and more years after restorative proctocolectomy for patients with familial adenomatous polyposis coli. Dis Colon Rectum 53:1381–1387
Anderson T, Lunde OC, Johnson E, Moum T, Nesbakken A (2011) Long-term functional outcome and quality of life after restorative proctocolectomy with ileo-anal anastomosis for colitis. Color Dis 13:431–437
Barrow P, Khan M, Lalloo F, Evans DG, Hill J (2013) Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and lynch syndrome. Br J Surg 100:1719–1731
Iwama T, Tamura K, Morita T et al (2004) A clinical overview of familial adenomatous polyposis derived from the database of the polyposis registry of Japan. Int J Clin Oncol 9:308–316
Ueno H, Kobayashi H, Konishi T et al (2016) Prevalence of laparoscopic surgical treatment and its clinical outcomes in patients with familial adenomatous polyposis in Japan. Int J Clin Oncol 21:713–722
Yamano T, Hamanaka M, Babaya A et al (2017) Management strategies in lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan. Cancer Sci 108:243–249
Yamadera M, Ueno H, Kobayashi H, Konishi T, Ishida F, Yamaguchi T, Hinoi T, Inoue Y, Kanemitsu Y, Tomita N, Ishida H, Sugihara K (2017) Current status of prophylactic surgical treatment for familial adenomatous polyposis in Japan. Surg Today 47:690–696
Tanaka M, Kanemitsu Y, Ueno H, Kobayashi H, Konishi T, Ishida F, Yamaguchi T, Hinoi T, Inoue Y, Tomita N, Ishida H, Sugihara K (2017) Prognostic impact of hospital volume on familial adenomatous polyposis: a nationwide multicenter study. Int J Color Dis 32:1489–1498
Yamaguchi T, Ishida H, Ueno H, Kobayashi H, Hinoi T, Inoue Y, Ishida F, Kanemitsu Y, Konishi T, Tomita N, Matsubara N, Watanabe T, Sugihara K (2016) Upper gastrointestinal tumours in Japanese familial adenomatous polyposis patients. Jpn J Clin Oncol 46:310–315
Inoue Y, Ishida H, Ueno H, Kobayashi H, Yamaguchi T, Konishi T, Tomita N, Matsubara N, Ishida F, Hinoi T, Kanemitsu Y, Watanabe T, Sugihara K (2017) The treatment of desmoid tumors associated with familial adenomatous polyposis: the results of a Japanese multicenter observational study. Surg Today 47:1259–1267
Sada H, Hinoi T, Ueno H et al (2019) Prevalence of and risk factors for thyroid carcinoma in patients with familial adenomatous polyposis: results of a multicenter study in Japan and a systematic review. Surg Today 49:72–81
Ishida H, Yamaguchi T, Tanakaya K et al (2018) Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2016 for the clinical practice of hereditary colorectal cancer (translated version). J Anus Rectum Colon 2(Suppl I):S1–S51 (http://journal-arc.jp/pdf/002s10001.pdf). Accessed 5 Feb 2020
Jorge JM, Wexner SD (1993) Etiology and management of fecal incontinence. Dis Colon Rectum 36:77–97
Schneider R, Schneider C, Dalchow A, Jakobeit C, Möslein G (2015) Prophylactic surgery in familial adenomatous polyposis (FAP)--a single surgeon’s short- and long-term experience with hand-assisted proctocolectomy and smaller J-pouches. Int J Color Dis 30:1109–1115
Günther K, Braunrieder G, Bittorf BR, Hohenberger W, Matzel KE (2003) Patients with familial adenomatous polyposis experience better bowel function and quality of life after ileorectal anastomosis than after ileoanal pouch. Color Dis 5:38–44
Fazio VW, Kiran RP, Remzi FH, Coffey JC, Heneghan HM, Kirat HT, Manilich E, Shen B, Martin ST (2013) Ileal pouch anal anastomosis: analysis of outcome and quality of life in 3707 patients. Ann Surg 257:679–685
Campos FG, Martinez CAR, Sulbaran M, Bustamante-Lopez LA, Safatle-Ribeiro AV (2019) Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management. J Gastrointest Oncol 10:734–744
Steinhagen E, Hui VW, Levy RA et al (2014) Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients. Am J Surg 208:764–769
Monachese M, Mankaney G, Lopez R, O'Malley M, Laguardia L, Kalady MF, Church J, Shin J, Burke CA (2019) Outcome of thyroid ultrasound screening in FAP patients with a normal baseline exam. Familial Cancer 18:75–82
Tajika M, Tanaka T, Ishihara M, Hirayama Y, Oonishi S, Mizuno N, Kuwahara T, Okuno N, Matsumoto S, Ooshiro T, Kinoshita T, Komori K, Bhatia V, Hara K, Yatabe Y, Niwa Y (2019) Long-term outcomes of metachronous neoplasms in the ileal pouch and rectum after surgical treatment in patients with familial adenomatous polyposis. Endosc Int Open 7:E691–E698
Konishi T, Ishida H, Ueno H et al (2017) Postoperative complications after stapled and hand-sewn ileal pouch-anal anastomosis for familial adenomatous polyposis: a multicenter study. Ann Gastroenterol Surg 1:143–149
Campos FG, Martinez CA, Novaes M, Nahas SC, Cecconello I (2015) Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis. Familial Cancer 14:211–219
We thank all of the patients who participated in this study. We also thank Ms. Okada and Ms. Yamashita for helping with the data collection. Finally, we thank Edanz Group (www.edanzediting.com/ac) for editing a draft of this manuscript.
Conflict of interest
The authors declare that they have no conflict of interest.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
About this article
Cite this article
Babaya, A., Yamano, T., Matsubara, T. et al. Long-term clinical outcomes and follow-up status in Japanese patients with familial adenomatous polyposis after radical surgery: a descriptive, retrospective cohort study from a single institute. Int J Colorectal Dis 35, 675–684 (2020). https://doi.org/10.1007/s00384-020-03524-y
- Familial adenomatous polyposis
- Fecal incontinence