Preliminary study on the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome: a report of 295 Chinese cases_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

DUAN Fuxiao ^1,2 ,  GU Guoli ^1,2 , YANG Hairui ² , NING Shoubin ³ , ZHANG Zhi ²

1. Medical School of Chinese People’s Liberation Army, Beijing 100185, P. R. China;
2. Department of General Surgery, Air Force General Hospital of Chinese People’s Liberation Army, Beijing 100142, P. R. China;
3. Department of Digestive Disease, Air Force General Hospital of Chinese People’s Liberation Army, Beijing 100142, P. R. China;

Corresponding author：

GU Guoli, Email: kzggl@163.com

Keywords：

Peutz-Jeghers syndrome; clinical manifestation; subtype; diagnosis and treatment; pathological features

DOI：

10.7507/1007-9424.201801077

Video：

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Objective To investigate the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome (PJS) in Chinese cases. Methods The clinical and pathological data of 295 patients with PJS who were treated in Air Force General Hospital from Nov. 1994 to Aug. 2017 were retrospectively analyzed and a multifactor statistical study was carried out on. Results Two hundreds and ninety-five patients with PJS belonged to 7 nationalities and came from 26 provinces and urban areas. 99.0% (292/295) of the patients had black spots on the lip and buccal mucosa, and the median occurrence time was 2 years old (0–33 years). The median age of inital diagnosis and treatment was 15 years old (1–45 years). The median interval time between the occurrence of black spots and abdominal symptoms was about 10 years (0–45 years). PJS hamartoma polyps were found in alimentary canals of 293 patients (99.3%), and 96.9% distributed in the duodenum and small intestine (n=284), 90.4% distributed in the colorectal (n=265), 79.9% distributed in the stomach (n=234). Patients of black spot appearing at age <3 years and (or) initial treatment at age <14 years were classified as early-onset subtype, otherwise they could be included in delayed-onset subtype. Conclusions The clinical features of PJS are prominent and the harm of PJS hamartoma polyps is serious. The black spots on the lip and buccal mucosa can be used as an early warning signal to divide the PJS patients into 2 clinical subtypes, which should be differentiated in clinical therapy and follow-up strategy.

Citation： DUAN Fuxiao, GU Guoli, YANG Hairui, NING Shoubin, ZHANG Zhi. Preliminary study on the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome: a report of 295 Chinese cases. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2018, 25(7): 800-806. doi: 10.7507/1007-9424.201801077 Copy

1.	Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut, 2010, 59(7): 975-986.
2.	顾国利, 魏学明, 徐丽梅, 等. Peutz-Jeghers综合征预防性治疗的研究. 胃肠病学和肝病学杂志, 2012, 21(4): 380-383.
3.	Chen C, Zhang X, Wang D, et al. Genetic screening and analysis of LKB1 gene in Chinese patients with Peutz-Jeghers syndrome. Med Sci Monit, 2016, 22: 3628-3640.
4.	Zheng B, Wang C, Jia Z, et al. A clinical and molecular genetic study in 11 Chinese children with Peutz-Jeghers syndrome. J Pediatr Gastroenterol Nutr, 2017, 64(4): 559-564.
5.	毛旭燕, 张亚飞, 王海丰, 等. Peutz-Jeghers综合征患者STK11及FHIT基因突变分析. 中华医学遗传学杂志, 2016, 33(2): 186-190.
6.	Wang H, Luo T, Liu WQ, et al. Clinical presentations and surgical approach of acute intussusception caused by Peutz-Jeghers syndrome in adults. J Gastrointest Surg, 2011, 15(12): 2218-2225.
7.	Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer, 2011, 10(3): 455-461.
8.	Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis, 2016, 31(5): 997-1004.
9.	王石林, 顾国利, 毛高平. Peutz-Jeghers综合征胃肠道息肉的36例诊治经验. 中华胃肠外科杂志, 2009, 12(4): 428.
10.	全国遗传性大肠癌协作组. 中国人遗传性大肠癌筛检标准的实施方案. 中华肿瘤杂志, 2004, 26(3): 191-192.
11.	Matsui S, Kibi M, Anami E, et al. A case of Cronkhite-Canada syndrome with multiple colon adenomas and early colon cancers. Nihon Shokakibyo Gakkai Zasshi, 2011, 108(5): 778-786.
12.	Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis, 2009, 24(8): 865-874.
13.	Goverde A, Korsse SE, Wagner A, et al. Small-bowel surveillance in patients with Peutz-Jeghers syndrome: comparing magnetic resonance enteroclysis and double balloon enteroscopy. J Clin Gastroenterol, 2017, 51(4): e27-e33.
14.	Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res, 2006, 12(10): 3209-3215.
15.	Mehenni H, Resta N, Park JG, et al. Cancer risks in LKB1 germline mutation carriers. Gut, 2006, 55(7): 984-990.
16.	van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol, 2010, 105(6): 1258-1264.
17.	Taguchi T, Suita S, Taguchi S, et al. Peutz-Jeghers syndrome in children: high recurrence rate in short-term follow-up. Asian J Surg, 2003, 26(4): 221-224.
18.	Wang ZJ, Ellis I, Zauber P, et al. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence. J Pathol, 1999, 188(1): 9-13.
19.	陈虹羽, 张亚飞, 宁守斌. Peutz-Jeghers综合征肿瘤易感机制研究进展. 医学研究杂志, 2016, 45(8): 14-16.
20.	Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology, 2000, 119(6): 1447-1453.
21.	Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer, 2003, 89(2): 308-313.
22.	Mehenni H, Resta N, Guanti G, et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci, 2007, 52(8): 1924-1933.
23.	Chen W, Zheng R, Zhang S, et al. Cancer incidence and mortality in China in 2013: an analysis based on urbanization level. Chin J Cancer Res, 2017, 29(1): 1-10.
24.	费翔, 于鹏飞, 杨海瑞, 等. Peutz-Jeghers综合征肠道息肉恶变的临床分析. 中国普外基础与临床杂志, 2016, 23(5): 598-600.
25.	袁柏思, 路又可, 金鑫鑫, 等. Peutz-Jeghers综合征: 恶性肿瘤高风险人群. 世界华人消化杂志, 2011, 19(29): 3094-3099.
26.	Dunlop MG, British Society for Gastroenterology, Association of Coloproctology for Great Britain and Ireland. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut, 2002, 51 Suppl 5: V21-V27.
27.	Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci, 1999, 55(5): 735-750.
28.	Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol, 2006, 4(4): 408-415.

1. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut, 2010, 59(7): 975-986.
2. 顾国利, 魏学明, 徐丽梅, 等. Peutz-Jeghers综合征预防性治疗的研究. 胃肠病学和肝病学杂志, 2012, 21(4): 380-383.
3. Chen C, Zhang X, Wang D, et al. Genetic screening and analysis of LKB1 gene in Chinese patients with Peutz-Jeghers syndrome. Med Sci Monit, 2016, 22: 3628-3640.
4. Zheng B, Wang C, Jia Z, et al. A clinical and molecular genetic study in 11 Chinese children with Peutz-Jeghers syndrome. J Pediatr Gastroenterol Nutr, 2017, 64(4): 559-564.
5. 毛旭燕, 张亚飞, 王海丰, 等. Peutz-Jeghers综合征患者STK11及FHIT基因突变分析. 中华医学遗传学杂志, 2016, 33(2): 186-190.
6. Wang H, Luo T, Liu WQ, et al. Clinical presentations and surgical approach of acute intussusception caused by Peutz-Jeghers syndrome in adults. J Gastrointest Surg, 2011, 15(12): 2218-2225.
7. Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer, 2011, 10(3): 455-461.
8. Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis, 2016, 31(5): 997-1004.
9. 王石林, 顾国利, 毛高平. Peutz-Jeghers综合征胃肠道息肉的36例诊治经验. 中华胃肠外科杂志, 2009, 12(4): 428.
10. 全国遗传性大肠癌协作组. 中国人遗传性大肠癌筛检标准的实施方案. 中华肿瘤杂志, 2004, 26(3): 191-192.
11. Matsui S, Kibi M, Anami E, et al. A case of Cronkhite-Canada syndrome with multiple colon adenomas and early colon cancers. Nihon Shokakibyo Gakkai Zasshi, 2011, 108(5): 778-786.
12. Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis, 2009, 24(8): 865-874.
13. Goverde A, Korsse SE, Wagner A, et al. Small-bowel surveillance in patients with Peutz-Jeghers syndrome: comparing magnetic resonance enteroclysis and double balloon enteroscopy. J Clin Gastroenterol, 2017, 51(4): e27-e33.
14. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res, 2006, 12(10): 3209-3215.
15. Mehenni H, Resta N, Park JG, et al. Cancer risks in LKB1 germline mutation carriers. Gut, 2006, 55(7): 984-990.
16. van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol, 2010, 105(6): 1258-1264.
17. Taguchi T, Suita S, Taguchi S, et al. Peutz-Jeghers syndrome in children: high recurrence rate in short-term follow-up. Asian J Surg, 2003, 26(4): 221-224.
18. Wang ZJ, Ellis I, Zauber P, et al. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence. J Pathol, 1999, 188(1): 9-13.
19. 陈虹羽, 张亚飞, 宁守斌. Peutz-Jeghers综合征肿瘤易感机制研究进展. 医学研究杂志, 2016, 45(8): 14-16.
20. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology, 2000, 119(6): 1447-1453.
21. Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer, 2003, 89(2): 308-313.
22. Mehenni H, Resta N, Guanti G, et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci, 2007, 52(8): 1924-1933.
23. Chen W, Zheng R, Zhang S, et al. Cancer incidence and mortality in China in 2013: an analysis based on urbanization level. Chin J Cancer Res, 2017, 29(1): 1-10.
24. 费翔, 于鹏飞, 杨海瑞, 等. Peutz-Jeghers综合征肠道息肉恶变的临床分析. 中国普外基础与临床杂志, 2016, 23(5): 598-600.
25. 袁柏思, 路又可, 金鑫鑫, 等. Peutz-Jeghers综合征: 恶性肿瘤高风险人群. 世界华人消化杂志, 2011, 19(29): 3094-3099.
26. Dunlop MG, British Society for Gastroenterology, Association of Coloproctology for Great Britain and Ireland. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut, 2002, 51 Suppl 5: V21-V27.
27. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci, 1999, 55(5): 735-750.
28. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol, 2006, 4(4): 408-415.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Preliminary study on the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome: a report of 295 Chinese cases

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