Advances in Research on Diagnosis and Treatment of Peutz-Jeghers Syndrome_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

DONG Ke , LI Bo.

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

Corresponding author：

Keywords：

Peutz-Jeghers syndrome Polyp Advances Diagnosis Treatment

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【Abstract】ObjectiveTo facilitate a better understanding of the progress in the research, diagnosis and treatment of PeutzJeghers syndrome (PJS).
MethodsAlmost all the papers related to PJS from various magazines published in English and Chinese in recent years were reviewed. Current progresses in PJS research and related diagnosis and treatment were discussed in this review.
ResultsPJS is a rare inherited disease with autosomal dominant trait, which is characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation of the lips, buccal mucosa, and digits. This syndrome is commonly complicated with intestinal obstruction, bleeding, or intussusception,and patients with this disease are at high risk for the development of both GI and extraintestinal malignancies. STK11 on chromosome 19p13.3 are responsible for most cases of PJS. The polyps of PJS tend to have a high incidence of malignant change, and the recurrence of malignancy after treatment is also high.
ConclusionThe STK11 has been identified as one of the main genes responsible for PJS and has close correlation with formation and development of tumors. Patients with PJS are at high risk for the development of both GI and extraintestinal malignancies.

Citation： DONG Ke,LI Bo.. Advances in Research on Diagnosis and Treatment of Peutz-Jeghers Syndrome. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2005, 12(2): 195-198. doi: Copy

1.	Burt RW. Poloypsis syndromes [J]. Clin perspectives gastro， 2002; 2（1）51.
2.	Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial PeutzJeghers syndrome [J]. Gastroenterology, 2000; 119(6)1447.
3.	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.
4.	Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied peculiar pigmentation of skin and mucous membrane [J]. Ned Maandscbr Geneesk， 1921; 10（1）134.
5.	Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)1031.
6.	McGarrity TJ, Kulin HE, Zaino RJ. PeutzJeghers syndrome [J]. Am J Gastroenterol, 2000; 95(3)596.
7.	Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management [J]. Gastroenterol Clin North Am, 2002; 31(4)1107.
8.	Utsunomiya J, Gocho H, Miyanaga T, et al. PeutzJeghers syndrome: its natural course and management [J]. Johns Hopkins Med J, 1975; 136(2)71.
9.	Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the PeutzJeghers syndrome [J]. N Engl J Med. 1987; 316(24)1511.
10.	Foley TR, McGarrity TJ, Abt AB. PeutzJeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49year followup [J]. Gastroenterology, 1988; 95(6)1535.
11.	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.
12.	Taguchi T, Suita S, Taguchi S, et al. PeutzJeghers syndrome in children: high recurrence rate in shortterm followup [J]. Asian J Surg, 2003; 26(4)221.
13.	Tovar JA, Eizaguirre I, Albert A, et al. PeutzJeghers syndrome in children: report of two cases and review of the literature [J]. J Pediatr Surg, 1983; 18(1)1.
14.	Akiyama Y, Kataoka H, Nabershima K， et al. Adenocacinoma arising in a gastric PeutzJeghers polyp [J]. Jpn J pediatr surg ， 2001; 33(3)770.
15.	Suda T, Wataanabe H, Hatakeyama K. PeutzJeghers syndrome [J]. Rinsbo Kagaku， 1988; 24(2)332.
16.	Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
17.	Spigelman AD, Murday V, Phillips RK. Cancer and the PeutzJeghers syndrome [J]. Gut, 1989; 30(11)1588.
18.	Vasen HF. Clinical diagnosis and management of hereditary colorectal cancer syndromes [J]. J Clin Oncol, 2000; 18(21 Suppl)81S.
19.	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.
20.	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.
21.	Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in PeutzJeghers syndrome [J]. Nature, 1998; 391(6663)184.
22.	Nakagawa H, Koyama K, Nakamori S, et al. Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability [J]. Jpn J Cancer Res, 1999; 90(6)633.
23.	李宜雄，吕新生，夏家辉，等. STK基因突变在中国人PeutzJeghers综合征的特征 [J]. 中华医学遗传学杂志， 2001； 18（1） 4.
24.	Kang LC, Zhao XR, Zhou YS， et al. Mutations analysis of STK11 gene in Chinese families with peutzjeghers syndrome [J]. Chinese Science Bulletin， 2002; 47(11)1639.
25.	Jiang CY, Esufali S, Berk T, et al. STK11/LKB1 germline mutations are not identified in most PeutzJeghers syndrome patients [J]. Clin Genet, 1999; 56(2)136.
26.	De Facq L, De Sutter J, De Man M, et al. A case of PeutzJeghers syndrome with nasal polyposis, extreme iron deficiency anemia, and hamartomaadenoma transformation: management by combined surgical and endoscopic approach [J]. Am J Gastroenterol, 1995; 90(8)1330.
27.	Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
28.	Esteller M, Avizienyte E, Corn PG, et al. Epigenetic inactivation of LKB1 in primary tumors associated with the PeutzJeghers syndrome [J]. Oncogene, 2000; 19(1)164.
29.	Tiainen M, Vaahtomeri K, Ylikorkala A, et al. Growth arrest by the LKB1 tumor suppressor: induction of p21(WAF1/CIP1) [J]. Hum Mol Genet, 2002; 11(13)1497.
30.	Karuman P, Gozani O, Odze RD, et al. The PeutzJegher gene product LKB1 is a mediator of p53dependent cell death [J]. Mol Cell, 2001; 7(6)1307.

1. Burt RW. Poloypsis syndromes [J]. Clin perspectives gastro， 2002; 2（1）51.
2. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial PeutzJeghers syndrome [J]. Gastroenterology, 2000; 119(6)1447.
3. 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.
4. Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied peculiar pigmentation of skin and mucous membrane [J]. Ned Maandscbr Geneesk， 1921; 10（1）134.
5. Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)1031.
6. McGarrity TJ, Kulin HE, Zaino RJ. PeutzJeghers syndrome [J]. Am J Gastroenterol, 2000; 95(3)596.
7. Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management [J]. Gastroenterol Clin North Am, 2002; 31(4)1107.
8. Utsunomiya J, Gocho H, Miyanaga T, et al. PeutzJeghers syndrome: its natural course and management [J]. Johns Hopkins Med J, 1975; 136(2)71.
9. Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the PeutzJeghers syndrome [J]. N Engl J Med. 1987; 316(24)1511.
10. Foley TR, McGarrity TJ, Abt AB. PeutzJeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49year followup [J]. Gastroenterology, 1988; 95(6)1535.
11. 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.
12. Taguchi T, Suita S, Taguchi S, et al. PeutzJeghers syndrome in children: high recurrence rate in shortterm followup [J]. Asian J Surg, 2003; 26(4)221.
13. Tovar JA, Eizaguirre I, Albert A, et al. PeutzJeghers syndrome in children: report of two cases and review of the literature [J]. J Pediatr Surg, 1983; 18(1)1.
14. Akiyama Y, Kataoka H, Nabershima K， et al. Adenocacinoma arising in a gastric PeutzJeghers polyp [J]. Jpn J pediatr surg ， 2001; 33(3)770.
15. Suda T, Wataanabe H, Hatakeyama K. PeutzJeghers syndrome [J]. Rinsbo Kagaku， 1988; 24(2)332.
16. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
17. Spigelman AD, Murday V, Phillips RK. Cancer and the PeutzJeghers syndrome [J]. Gut, 1989; 30(11)1588.
18. Vasen HF. Clinical diagnosis and management of hereditary colorectal cancer syndromes [J]. J Clin Oncol, 2000; 18(21 Suppl)81S.
19. 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.
20. 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.
21. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in PeutzJeghers syndrome [J]. Nature, 1998; 391(6663)184.
22. Nakagawa H, Koyama K, Nakamori S, et al. Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability [J]. Jpn J Cancer Res, 1999; 90(6)633.
23. 李宜雄，吕新生，夏家辉，等. STK基因突变在中国人PeutzJeghers综合征的特征 [J]. 中华医学遗传学杂志， 2001； 18（1） 4.
24. Kang LC, Zhao XR, Zhou YS， et al. Mutations analysis of STK11 gene in Chinese families with peutzjeghers syndrome [J]. Chinese Science Bulletin， 2002; 47(11)1639.
25. Jiang CY, Esufali S, Berk T, et al. STK11/LKB1 germline mutations are not identified in most PeutzJeghers syndrome patients [J]. Clin Genet, 1999; 56(2)136.
26. De Facq L, De Sutter J, De Man M, et al. A case of PeutzJeghers syndrome with nasal polyposis, extreme iron deficiency anemia, and hamartomaadenoma transformation: management by combined surgical and endoscopic approach [J]. Am J Gastroenterol, 1995; 90(8)1330.
27. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
28. Esteller M, Avizienyte E, Corn PG, et al. Epigenetic inactivation of LKB1 in primary tumors associated with the PeutzJeghers syndrome [J]. Oncogene, 2000; 19(1)164.
29. Tiainen M, Vaahtomeri K, Ylikorkala A, et al. Growth arrest by the LKB1 tumor suppressor: induction of p21(WAF1/CIP1) [J]. Hum Mol Genet, 2002; 11(13)1497.
30. Karuman P, Gozani O, Odze RD, et al. The PeutzJegher gene product LKB1 is a mediator of p53dependent cell death [J]. Mol Cell, 2001; 7(6)1307.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Advances in Research on Diagnosis and Treatment of Peutz-Jeghers Syndrome

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