Peutz-Jeghers Syndrome


  • Cipta Mahendra Departemen Kimia-Biokimia, Fakultas Kedokteran dan Ilmu Kesehatan Universitas Katolik Indonesia Atma Jaya, Jakarta, Indonesia



sindrom Peutz-Jeghers, polip


Sindrom Peutz-Jeghers (Peutz-Jeghers Syndrome/PJS) merupakan penyakit herediter langka dengan ciri klinis pigmentasi mukokutaneus dan polip gastrointestinal. Hingga kini, satu-satunya upaya terapi adalah eliminasi polip melalui metode endoskopi dan/atau operasi laparatomi abdomen invasif. Penderita PJS memiliki risiko tinggi mendapat berbagai jenis kanker, sehingga diperlukan skrining rutin. Para penderita PJS perlu mendapat edukasi dan dukungan mental. Diperlukan riset lebih mendalam untuk tatalaksana terbaik sindrom PJS.

Peutz-Jeghers Syndrome (PJS) is rare hereditary disease with mucocutaneous pigmentations and gastrointestinal polyps as the most prominent clinical features. The only approved treatment is to eliminate the polyps by endoscopy and/or invasive abdominal laparotomy surgery. Patients with PJS have a high lifetime risk of various cancers and warrants regular surveillance for early signs of malignancies. PJS patients need to be well-informed and supported by the treating physicians to cope with their PJS status. More research in the management of PJS is needed


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Daniell J, Plazzer JP, Perera A, Macrae F. An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: A review. Fam Cancer 2018;17(3):421-7.

Genetics Home Reference. Peutz-Jeghers syndrome [Internet]. 2020 Mar 17 [cited 2020 Mar 29]. Available from:

Achatz MI, Porter CC, Brugieres L, Druker H, Frebourg T, Foulkes WD, et al. Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood. Clin Cancer Res. 2017;23(13):107-14.

Linhart H, Bormann F, Hutter B, Brors B, Lyko F. Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp. Cold Spring Harb Mol Case Stud.2017;3(3):a001610.

Parray FQ, Syed AW, Yatoo GN, Zargar SA, Malik RA. Peutz-Jeghers syndrome. North Am J Med Sci. 2012;4(11): 613-4.

To BAT, Cagir B. Peutz-Jeghers syndrome. USA: Medscape [Internet]. 2018 Oct 11 [cited 2020 Mar 29]. Available from:

Jiang YL, Zhao ZY, Li BR, Yang F, Li J, Jin XW, et al. The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. BMC Med Genet. 2018;19(1): 141.

Salloch H, Reinacher-Schick A, Schulmann K, Schulmann K, Pox C, Willert J, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis.2010;25(1): 97-107.

Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Digest Liver Dis. 2013;45(7): 606-11.

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2): 223-62.

Bhalla M, Garg S. Acral melanosis. Pigm Int. 2018;5(1):14-27.

Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, et al. Peutz-Jeghers syndrome: A systematic review and recommendations for management. Gut 2010;59(7): 975-86.

Meserve EE, Nucci MR. Peutz-Jeghers syndrome: Pathobiology, pathologic manifestations, and suggestions for recommending genetic testing in pathology reports.Surg Pathol Clin. 2016;9(2): 243-68.

Korsse SE, Dewint P, Kuipers EJ, van Leerdam ME. Small bowel endoscopy and Peutz-Jeghers syndrome. Best Pract Res Clin Gastroenterol. 2012;26:263-78.

Soike T, Holloman D. Peutz-Jeghers polyps. Pathol Case Rev. 2013;18(2):75-8.

Tan VK, Koh PK, Loi CT, Eu KW, Tang CL. Peutz-Jeghers syndrome: Data from the Singapore Polyposis Registry and a shifting paradigm in management. Ann Acad Med Sing. 2010;39(1):17-21.

van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258-64.

van Lier MG, Mathus-Vliegen EM, Kuipers EJ, van Leerdam ME, Wagner A. Quality of life and psychological distress in patients with Peutz-Jeghers syndrome. Clin Genet. 2010;78(3):219-26.

Woo A, Sadana A, Mauger DT, Baker MJ, Berk T, McGarrity TJ. Psychosocial impact of Peutz-Jeghers syndrome. Fam Cancer 2009;8(1):59-65.

Gopie JP, Vasen HF, Tibben A. Surveillance for hereditary cancer: Does the benefit outweigh the psychological burden? A systematic review. Crit Rev Oncol Hematol. 2012;83(3):329-40.




How to Cite

Mahendra, C. (2021). Peutz-Jeghers Syndrome. Cermin Dunia Kedokteran, 48(12), 700–703.