Clinical Analysis of Peutz-Jeghers Syndrome and Its Canceration_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

JIANG Xiaozhong ¹ , CHEN Liheng ² , YAN Lnan ¹ , ZHU Yong ² , LI Fugui ¹ , DU Yiping ² , GONG Guang ¹

Department of General Surgery, West China Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

Keywords：

Peutz-Jeghers syndrome; Malignancy; Surgery

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Objective　To analyse the clinical features of Peutz-Jeghers syndrome and its canceration, and to summarize the management and the follow-up strategy for patients with Peutz-Jeghers syndrome. Methods　Clinical data of 30 patients with Peutz-Jeghers syndrome dating from October 1985 to September 2005 in West China Hospital of Sichuan University were analyzed retrospectively. Results　Fourteen (46.67%) definite family histories of Peutz-Jeghers syndrome were found. Pigmentation of skin and mucosa, abdominalgia and hematochezia were major clinical manifestations of the syndrome. There were 18 patients (60.00%) complicated with intussusception and acute intestinal obstructions, 16 patients (53.33%) with gastrointestinal bleeding, and 6 patients (20.00%) developed malignancy. The frequent types of malignancy were carcinoma of small intestine (3 cases), colon carcinoma (2 cases) and gastric carcinoma (1 case) in order. The mean age of the canceration-diagnosed patients was 32 years old. The type of pathohistology of all the malignancy was poorly differentiated mucus adenocarcinoma. High-frequency endoscopic electroresection, orthdox polypectomy and enterectomy were the major means of treatment. Conclusion　Patients with Peutz-Jeghers syndrome are at high risk of canceration at relatively early ages and usually the differentiation of the tumor is poor. Endoscopy should be performed regularly and the high-frequency electroresection is an effective therapy in disposing intestinal polyp. Screening can also improve the efficacy of Peutz-Jeghers syndrome.

Citation： JIANG Xiaozhong,CHEN Liheng,YAN Lnan,ZHU Yong,LI Fugui,DU Yiping,GONG Guang. Clinical Analysis of Peutz-Jeghers Syndrome and Its Canceration. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2006, 13(6): 709-711. doi: Copy

1.	Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome [J].J Med Genet, 1997; 34(12)∶1007.
2.	Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane [J]. Ned (Tijdschr) Geneeskd, 1921; 10∶134.
3.	Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)∶1031.
4.	吴阶平, 裘法祖主编. 黄家驷外科学(中册) [M]. 第6版. 北京: 人民卫生出版社, 1999∶1109~1110.
5.	Hemminki A, Tomlinson I, Markie D, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis [J]. Nat Genet, 1997; 15(1)∶87.
6.	Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome [J]. Nature, 1998; 391(6663)∶184.
7.	Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase [J]. Nat Genet, 1998; 18(1)∶38.
8.	黄洁夫主编. 腹部外科学 [M]. 北京: 人民卫生出版社, 2001∶1025.
9.	Dong K, Li B. Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment [J]. Chin J Dig Dis， 2004; 5(4)∶160.
10.	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]. J Pathol， 1999; 188(1)∶9.
11.	Wang ZJ, Churchman M, Avizienyte E, et al. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients [J]. J Med Genet， 1999; 36(5)∶365.
12.	Smith DP, Rayter SI, Niederlander C, et al. LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1 [J]. Hum Mol Genet， 2001; 10(25)∶2869.
13.	王振军, 刘玉村, 毕郭龙, 等. 黑斑息肉病病人的恶性肿瘤易感性研究 [J]. 中国实用外科杂志, 1999； 19(11)∶655.
14.	杨　斌, 赵　博, 王振军. 黑斑息肉病的临床特点和治疗策略 [J]. 大肠肛门病外科杂志, 2004； 10(4)∶271.

1. 　Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome [J].J Med Genet, 1997; 34(12)∶1007.
2. 　Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane [J]. Ned (Tijdschr) Geneeskd, 1921; 10∶134.
3. 　Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)∶1031.
4. 　吴阶平, 裘法祖主编. 黄家驷外科学(中册) [M]. 第6版. 北京: 人民卫生出版社, 1999∶1109~1110.
5. 　Hemminki A, Tomlinson I, Markie D, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis [J]. Nat Genet, 1997; 15(1)∶87.
6. 　Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome [J]. Nature, 1998; 391(6663)∶184.
7. 　Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase [J]. Nat Genet, 1998; 18(1)∶38.
8. 　黄洁夫主编. 腹部外科学 [M]. 北京: 人民卫生出版社, 2001∶1025.
9. 　Dong K, Li B. Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment [J]. Chin J Dig Dis， 2004; 5(4)∶160.
10. 　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]. J Pathol， 1999; 188(1)∶9.
11. 　Wang ZJ, Churchman M, Avizienyte E, et al. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients [J]. J Med Genet， 1999; 36(5)∶365.
12. 　Smith DP, Rayter SI, Niederlander C, et al. LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1 [J]. Hum Mol Genet， 2001; 10(25)∶2869.
13. 　王振军, 刘玉村, 毕郭龙, 等. 黑斑息肉病病人的恶性肿瘤易感性研究 [J]. 中国实用外科杂志, 1999； 19(11)∶655.
14. 　杨　斌, 赵　博, 王振军. 黑斑息肉病的临床特点和治疗策略 [J]. 大肠肛门病外科杂志, 2004； 10(4)∶271.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Clinical Analysis of Peutz-Jeghers Syndrome and Its Canceration

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