Peutz-Jeghers syndrome: Screening and management
- Daniel C Chung, MD
Daniel C Chung, MD
- Associate Professor of Medicine
- Harvard Medical School
- Tomer Adar, MD
Tomer Adar, MD
- Research Fellow, Gastroenterology Division
- Massachusetts General Hospital
- Senior Gastroenterologist, Digestive Diseases Institute
- Senior Physician in Internal Medicine, Shaare-Zedek Medical Center
- Hebrew University, Jerusalem, Israel
- Section Editors
- J Thomas Lamont, MD
J Thomas Lamont, MD
- Editor-in-Chief — Gastroenterology and Hepatology
- Section Editor — Anorectal Disorders and Misc. Lower GI Disease; Nutrition, Malabsorption, and Misc. Upper GI Disease
- Professor of Medicine
- Harvard Medical School
- Barbara Goff, MD
Barbara Goff, MD
- Section Editor — Gynecologic Oncology
- Department Chair, Gynecologic Oncology
- University of Washington Medical Center
Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and an increased risk of gastrointestinal and extraintestinal cancer. Although polyps most commonly occur in the small bowel, they can be found throughout the gastrointestinal tract, including the stomach and colon.
This topic will review the management of PJS. The clinical manifestations and diagnosis of PJS and other familial hamartomatous polyposis syndromes and adenomatous polyposis syndromes of the gastrointestinal tract are discussed in detail, separately . (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis" and "Juvenile polyposis syndrome" and "PTEN hamartoma tumor syndrome, including Cowden syndrome" and "Clinical manifestations and diagnosis of familial adenomatous polyposis" and "Familial adenomatous polyposis: Screening and management of patients and families" and "MUTYH-associated polyposis".)
MANAGEMENT OF PEUTZ-JEGHERS SYNDROME
Guidelines for cancer screening in individuals with Peutz-Jeghers syndrome (PJS) have been proposed by several groups and are largely based on expert opinion and limited observational data [2-5]. Our recommendations are largely consistent with the guidelines issued by the American College of Gastroenterology (ACG) and the National Comprehensive Cancer Network (NCCN) [5,6].
Routine management — Individuals with PJS should undergo an annual physical examination with a complete blood count to detect iron deficiency anemia due to occult bleeding from gastrointestinal tract polyps or cancer. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis", section on 'Hamartomatous polyps' and "Causes and diagnosis of iron deficiency and iron deficiency anemia in adults", section on 'Causes of iron deficiency'.)
Cancer screening — Individuals with PJS are at an increased risk of gastrointestinal and extraintestinal cancer. The lifetime risk of cancer ranges between 37 and 93 percent, with an average age of 42 years at cancer diagnosis . The most common sites of gastrointestinal tract malignancy are the colon and pancreas, and the most common site of extraintestinal tract cancer is the breast. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis", section on 'Clinical manifestations'.)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Harned RK, Buck JL, Sobin LH. The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol 1995; 164:565.
- Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998; 128:896.
- Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010; 59:975.
- 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; 105:1258.
- Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110:223.
- National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology. Genetic/Familial High Risk Assessment: Colorectal. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf (Accessed on November 13, 2015).
- Gupta A, Postgate AJ, Burling D, et al. A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. AJR Am J Roentgenol 2010; 195:108.
- Tomas C, Soyer P, Dohan A, et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol 2014; 20:10864.
- Korsse SE, Dewint P, Kuipers EJ, van Leerdam ME. Small bowel endoscopy and Peutz-Jeghers syndrome. Best Pract Res Clin Gastroenterol 2012; 26:263.
- Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr 2004; 39:219.
- Kuwada SK, Burt R. A rationale for mTOR inhibitors as chemoprevention agents in Peutz-Jeghers syndrome. Fam Cancer 2011; 10:469.
- Udd L, Katajisto P, Rossi DJ, et al. Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology 2004; 127:1030.
- Wei C, Amos CI, Zhang N, et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res 2008; 14:1167.
- Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006; 4:408.
- Dreyer L, Jacyk WK, du Plessis DJ. Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz-Jeghers syndrome: a case report. Pediatr Dermatol 1994; 11:335.
- Canto MI, Harinck F, Hruban RH, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 2013; 62:339.
- Li Y, Tong X, Yang J, et al. Q-switched alexandrite laser treatment of facial and labial lentigines associated with Peutz-Jeghers syndrome. Photodermatol Photoimmunol Photomed 2012; 28:196.
- Xi Z, Hui Q, Zhong L. Q-switched alexandrite laser treatment of oral labial lentigines in Chinese subjects with Peutz-Jeghers syndrome. Dermatol Surg 2009; 35:1084.
- Chang CJ, Nelson JS. Q-switched ruby laser treatment of mucocutaneous melanosis associated with Peutz-Jeghers syndrome. Ann Plast Surg 1996; 36:394.
- Benedict LM, Cohen B. Treatment of Peutz-Jeghers lentigines with the carbon dioxide laser. J Dermatol Surg Oncol 1991; 17:954.
- Practice Committee of the Society for Assisted Reproductive Technology, Practice Committee of the American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 2007; 88:1497.
- van Lier MG, Korsse SE, Mathus-Vliegen EM, et al. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis. Eur J Hum Genet 2012; 20:236.
- Woo A, Sadana A, Mauger DT, et al. Psychosocial impact of Peutz-Jeghers Syndrome. Fam Cancer 2009; 8:59.
- MANAGEMENT OF PEUTZ-JEGHERS SYNDROME
- Routine management
- Cancer screening
- - Gastrointestinal cancer
- Management of gastrointestinal tract polyps
- - Genital tract cancers
- Testicular tumors
- Cervical cancer
- Ovarian and endometrial cancer
- - Breast cancer
- - Pancreatic cancer
- - Other malignancies
- Other issues
- - Cutaneous hyperpigmentation
- - Genetic counseling
- SOCIETY GUIDELINE LINKS
- SUMMARY AND RECOMMENDATIONS