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

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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.	顧國利, 魏學明, 徐麗梅, 等. Peutz-Jeghers綜合征預防性治療的研究. 胃腸病學和肝病學雜志, 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, 張亞飛, 王海豐, 等. Peutz-Jeghers綜合征患者STK11及FHIT基因突變分析. 中華醫學遺傳學雜志, 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, 顧國利, 毛高平. Peutz-Jeghers綜合征胃腸道息肉的36例診治經驗. 中華胃腸外科雜志, 2009, 12(4): 428.
10.	全國遺傳性大腸癌協作組. 中國人遺傳性大腸癌篩檢標準的實施方案. 中華腫瘤雜志, 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.	陳虹羽, 張亞飛, 寧守斌. Peutz-Jeghers綜合征腫瘤易感機制研究進展. 醫學研究雜志, 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.	費翔, 于鵬飛, 楊海瑞, 等. Peutz-Jeghers綜合征腸道息肉惡變的臨床分析. 中國普外基礎與臨床雜志, 2016, 23(5): 598-600.
25.	袁柏思, 路又可, 金鑫鑫, 等. Peutz-Jeghers綜合征: 惡性腫瘤高風險人群. 世界華人消化雜志, 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. 顧國利, 魏學明, 徐麗梅, 等. Peutz-Jeghers綜合征預防性治療的研究. 胃腸病學和肝病學雜志, 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, 張亞飛, 王海豐, 等. Peutz-Jeghers綜合征患者STK11及FHIT基因突變分析. 中華醫學遺傳學雜志, 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, 顧國利, 毛高平. Peutz-Jeghers綜合征胃腸道息肉的36例診治經驗. 中華胃腸外科雜志, 2009, 12(4): 428.
10. 全國遺傳性大腸癌協作組. 中國人遺傳性大腸癌篩檢標準的實施方案. 中華腫瘤雜志, 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. 陳虹羽, 張亞飛, 寧守斌. Peutz-Jeghers綜合征腫瘤易感機制研究進展. 醫學研究雜志, 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. 費翔, 于鵬飛, 楊海瑞, 等. Peutz-Jeghers綜合征腸道息肉惡變的臨床分析. 中國普外基礎與臨床雜志, 2016, 23(5): 598-600.
25. 袁柏思, 路又可, 金鑫鑫, 等. Peutz-Jeghers綜合征: 惡性腫瘤高風險人群. 世界華人消化雜志, 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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