Peutz-Jeghers syndrome natural history, complications, and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction, and abdominal pain. Common complications of Peutz-Jeghers syndrome include colon cancer and cachexia. Prognosis is generally good with treatment.

Natural History

If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction, and abdominal pain.^[1]

Percentage of extraintestinal cancer in Peutz-Jeghers syndrome
Cancers^[2]	Percentage (%)
Breast	32 to 54
Ovary	21
Cervix	10
Testes	9

Percentage of gastrointestinal cancer in Peutz-Jeghers syndrome
Cancers^[3]	Percentage (%)
Colon	39
Stomach	29
Small Bowel	13
Pancraes	11 to 39

Complications

Complications that can develop as a result of Peutz-Jeghers syndrome are:^[4]^[5]

Colon cancer
Cachexia
Anemia
Intussusception
Gastrointestinal tract adenocarcinoma, although the polyps themselves are not premalignant
Extraintestinal malignancies:^[6]

Adenoma malignum (adenocarcinoma subtype of cervix)
Breast cancer
Pancreatic cancer
Ovaries: sex cord tumors
Testis: Sertoli cell tumors
Lung cancer
Uterine cancer
Paraganglioma

Prognosis

Prognosis is generally good with treatment. Almost half of Peutz-Jeghers patients die from cancer between age 50-60, and the cumulative risk of developing a form of cancer associated with Peutz-Jeghers syndrome between ages 15-64 is 93%.^[7]

References

↑ Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). "Peutz-Jeghers syndrome". RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.
↑ Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.
↑ van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME (2010). "High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations". Am J Gastroenterol. 105 (6): 1258–64, author reply 1265. doi:10.1038/ajg.2009.725. PMID 20051941.
↑ Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
↑ Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep. 4(9):492-502.
↑ Butt N, Salih M, Khan MR, Ahmed R, Haider Z, Shah SH (2012). "An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome". Saudi J Gastroenterol. 18 (6): 388–91. doi:10.4103/1319-3767.103432. PMC 3530995. PMID 23150026.
↑ Spigelman AD, Murday V, Phillips RK (1989). "Cancer and the Peutz-Jeghers syndrome". Gut. 30 (11): 1588–90. PMC 1434341. PMID 2599445.

[BuckHarned1992-1] Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). "Peutz-Jeghers syndrome". RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.

[GiardielloTrimbath2006-2] Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.

[pmid20051941-3] van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME (2010). "High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations". Am J Gastroenterol. 105 (6): 1258–64, author reply 1265. doi:10.1038/ajg.2009.725. PMID 20051941.

[KopacovaTacheci2009-4] Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.

[5] Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep. 4(9):492-502.

[pmid23150026-6] Butt N, Salih M, Khan MR, Ahmed R, Haider Z, Shah SH (2012). "An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome". Saudi J Gastroenterol. 18 (6): 388–91. doi:10.4103/1319-3767.103432. PMC 3530995. PMID 23150026.

[pmid2599445-7] Spigelman AD, Murday V, Phillips RK (1989). "Cancer and the Peutz-Jeghers syndrome". Gut. 30 (11): 1588–90. PMC 1434341. PMID 2599445.

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