Cancer risk in patients with Peutz-Jeghers syndrome in Korea: a retrospective multi-center study
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Background/Aims: There have been little research on the cancer risks of patients with Peutz-Jeghers syndrome (PJS) in Korea. We aimed to investigate the clinical features of PJS patients and their cancer incidence rate. Methods: Patients with PJS from nine medical centers were enrolled. In those patients diagnosed with cancer, data obtained included the date of cancer diagnosis, the tumor location, and the cancer stage. The cumulative risks of gastrointestinal cancers and extra-gastrointestinal cancers were calculated using the Kaplan-Meier method. Results: A total of 96 PJS patients were included. The median age at diagnosis of PJS was 23.4 years. Cancer developed in 21 of the 96 patients (21.9%). The age of PJS diagnosis was widely distributed (0.9 to 72.4 years). The most common cancers were gastrointestinal cancer (n = 12) followed by breast cancer (n = 6). The cumulative lifetime cancer risk was calculated to be 62.1% at age 60. The cumulative lifetime gastrointestinal cancer risk was 47.1% at age 70. The cumulative lifetime extra- gastrointestinal cancer risk was 40.3% at age 60. Conclusions: PJS onset may occur at any age and the risks of gastrointestinal and extra-gastrointestinal cancer are high. Thorough surveillance of PJS patients for malignancies is vital.
Abstract
Background/Aims: There have been little research on the cancer risks of patients with Peutz-Jeghers syndrome (PJS) in Korea. We aimed to investigate the clinical features of PJS patients and their cancer incidence rate. Methods: Patients with PJS from nine medical centers were enrolled. In those patients diagnosed with cancer, data obtained included the date of cancer diagnosis, the tumor location, and the cancer stage. The cumulative risks of gastrointestinal cancers and extra-gastrointestinal cancers were calculated using the Kaplan-Meier method. Results: A total of 96 PJS patients were included. The median age at diagnosis of PJS was 23.4 years. Cancer developed in 21 of the 96 patients (21.9%). The age of PJS diagnosis was widely distributed (0.9 to 72.4 years). The most common cancers were gastrointestinal cancer (n = 12) followed by breast cancer (n = 6). The cumulative lifetime cancer risk was calculated to be 62.1% at age 60. The cumulative lifetime gastrointestinal cancer risk was 47.1% at age 70. The cumulative lifetime extra- gastrointestinal cancer risk was 40.3% at age 60. Conclusions: PJS onset may occur at any age and the risks of gastrointestinal and extra-gastrointestinal cancer are high. Thorough surveillance of PJS patients for malignancies is vital.
참고문헌 (30)
- Beggs AD, "Peutz-Jeghers syndrome : a systematic review and recommendations for management", Gut, 59, pp.975~986 (2010)
- van Lier MG, "High cancer risk in Peutz-Jeghers syndrome : a systematic review and surveillance recommendations", Am J Gastroenterol, 105, pp.1258~1264 (2010)
- van Lier MG, "High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome", Gut, 60, pp.141~147 (2011)
- Giardiello FM, "Very high risk of cancer in familial Peutz-Jeghers syndrome", Gastroenterology, 119, pp.1447~1453 (2000)
- Chen HY, "Cancer risk in patients with Peutz-Jeghers syndrome : a retrospective cohort study of 336cases", Tumour Biol, 39, pp.1010428317705131~ (2017)
- Hearle N, "Frequency and spectrum of cancers in the Peutz-Jeghers syndrome", Clin Cancer Res, 12, pp.3209~3215 (2006)
- Mehenni H, "Cancer risks in LKB1 germline mutation carriers", Gut, 55, pp.984~990 (2006)
- Resta N, "Cancer risk associated with STK11", LKB1 germline mutations in Peutz-Jeghers syndrome patients : results of an Italian multicenter study, 2013, pp.45, 606~611
- Lim W, "Relative frequency and morphology of cancers in STK11 mutation carriers", Gastroenterology, 126, pp.1788~1794 (2004)
- Lim W, "Further observations on LKB1", STK11 status and cancer risk in Peutz-Jeghers syndrome, 2003, pp.89, 308~313
- Korsse SE, "Pancreatic cancer risk in Peutz-Jeghers syndrome patients : a large cohort study and implications for surveillance", J Med Genet, 50, pp.59~64 (2013)
- Cairns SR, "Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups(update from 2002)", Gut, 59, pp.666~689 (2010)
- Syngal S, "ACG clinical guideline : genetic testing and management of hereditary gastrointestinal cancer syndromes", Am J Gastroenterol, 110, pp.223~262 (2015)
- Wagner A, "The management of Peutz-Jeghers syndrome : European Hereditary Tumour Group(EHTG)Guideline", J Clin Med, 10, pp.473~ (2021)
- van Leerdam ME, "Endoscopic management of polyposis syndromes : European Society of Gastrointestinal Endoscopy(ESGE)Guideline", Endoscopy, 51, pp.877~895 (2019)
- Giardiello FM, "Peutz-Jeghers syndrome and management recommendations", Clin Gastroenterol Hepatol, 4, pp.408~415 (2006)
- Ishida H, "Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan", Surg Today, 46, pp.1231~1242 (2016)
- Iwamuro M, "Peutz-Jeghers syndrome and cancer : a retrospective study in 14 Japanese patients with Peutz-Jeghers syndrome", Nihon Shokakibyo Gakkai Zasshi, 116, pp.1015~1021 (2019)
- Choi HS, "Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients", Int J Colorectal Dis, 15, pp.35~38 (2000)
- Jelsig AM, "Disease pattern in Danish patients with Peutz-Jeghers syndrome", Int J Colorectal Dis, 31, pp.997~1004 (2016)
- Pennazio M, "Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders : European Society of Gastrointestinal Endoscopy(ESGE)Clinical Guideline", Endoscopy, 47, pp.352~376 (2015)
- 김은란, "Roles of Capsule Endoscopy and Device-Assisted Enteroscopy in the Diagnosis and Treatment of Small-Bowel Tumors", Clinical Endoscopy, 53(4), pp.410~416 (2020), 대한소화기내시경학회[DOI]
- Latchford AR, "Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome : clinical aspects", Fam Cancer, 10, pp.455~461 (2011)
- Jansen M, "Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis", Gut, 55, pp.1~5 (2006)
- Bosman FT, "The hamartoma-adenoma-carcinoma sequence", J Pathol, 188, pp.1~2 (1999)
- Bouraoui S, "Peutz-Jeghers’ syndrome with malignant development in a hamartomatous polyp : report of one case and review of the literature", Gastroenterol Clin Biol, 32, pp.250~254 (2008)
- Latchford AR, "Peutz-Jeghers syndrome : intriguing suggestion of gastrointestinal cancer prevention from surveillance", Dis Colon Rectum, 54, pp.1547~1551 (2011)
- Chen TH, "Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome : experience in Taiwan", Dig Dis Sci, 56, pp.1472~1475 (2011)
- Triggiani V, "Papillary thyroid carcinoma in Peutz-Jeghers syndrome", Thyroid, 21, pp.1273~1277 (2011)
- Zirilli L, "Differentiated thyroid carcinoma(DTC)in a young woman with Peutz-Jeghers syndrome : are these two conditions associated?", Exp Clin Endocrinol Diabetes, 117, pp.234~239 (2009)