eMedicine Specialties > Gastroenterology > Systemic Disease

Peutz-Jeghers Syndrome: Follow-up

Author: Sandeep Mukherjee, MB, BCh, MPH, FRCPC, Associate Professor, Department of Internal Medicine, Section of Gastroenterology and Hepatology, University of Nebraska Medical Center; Consulting Staff, Section of Gastroenterology and Hepatology, Veteran Affairs Medical Center
Coauthor(s): Andrea Duchini, MD, Assistant Professor of Medicine, Associate Medical Director of Liver Transplantation, Division of Transplantation, Department of Surgery, The Methodist Hospital-Cornell University, Houston; John M Carethers, MD, Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California at San Diego
Contributor Information and Disclosures

Updated: Apr 9, 2009

Follow-up

Complications

  • In young patients, small intestinal obstruction and intussusception are the main complications of Peutz-Jeghers syndrome. This is due to the small intestinal location of the polyps.
    Barium enema shows intussusception in the descend...

    Barium enema shows intussusception in the descending colon.

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    Barium enema shows intussusception in the descend...

    Barium enema shows intussusception in the descending colon.


    Computed tomography scan reveals the classic yin-...

    Computed tomography scan reveals the classic yin-yang sign of an intussusceptum inside an intussuscipiens.

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    Computed tomography scan reveals the classic yin-...

    Computed tomography scan reveals the classic yin-yang sign of an intussusceptum inside an intussuscipiens.


    Abdominal ultrasonography reveals the classic tar...

    Abdominal ultrasonography reveals the classic target sign of an intussusceptum inside an intussuscipiens.

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    Abdominal ultrasonography reveals the classic tar...

    Abdominal ultrasonography reveals the classic target sign of an intussusceptum inside an intussuscipiens.


    Postevacuation image from part of a double-contra...

    Postevacuation image from part of a double-contrast barium enema study in a 47-year-old man presenting with features of small-bowel obstruction. The image shows a coiled-spring appearance in the region of the cecum suggestive of an intussusception. At laparotomy, an ileocecal intussusception was found in association with a carcinoid tumor of the terminal ileum.

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    Postevacuation image from part of a double-contra...

    Postevacuation image from part of a double-contrast barium enema study in a 47-year-old man presenting with features of small-bowel obstruction. The image shows a coiled-spring appearance in the region of the cecum suggestive of an intussusception. At laparotomy, an ileocecal intussusception was found in association with a carcinoid tumor of the terminal ileum.

  • Cancer is the main consequence as patients with Peutz-Jeghers syndrome (PJS) age (93% cumulative risk by age 64 y). The major sites of cancer occurrence in order of RR over the general population are small intestine (RR 520), stomach (RR 96), pancreas (RR 132), colon (RR 84), esophagus (RR 57), ovary (RR 27), lung (RR 17), uterus (RR 16), and breast (RR 15.2). In addition, other reproductive site cancers have been associated with Peutz-Jeghers syndrome (PJS), including adenoma malignum of the cervix, Sertoli cell tumors, and sex cord tumors with annular tubules.
  • Adhesions and intestinal obstruction or short bowel syndrome from repeated abdominal surgeries : These can be limited with the use of endoscopic methods for intestinal polyp resection, such as intraoperative enteroscopy and push enteroscopy.

Prognosis

  • Forty-eight percent of patients with Peutz-Jeghers syndrome (PJS) develop and die from cancer by age 57 years. Others may potentially have a normal life span.

Patient Education

  • The patient with Peutz-Jeghers syndrome should be educated on the potential symptoms of intestinal obstruction and instructed on the need for cancer surveillance.

Miscellaneous

Medicolegal Pitfalls

  • Lack of adequate follow-up and cancer surveillance in patients with Peutz-Jeghers syndrome (PJS) is a potential pitfall.
  • In wake of the discovery of the genetic cause(s) of Peutz-Jeghers syndrome (PJS), genetic counseling by someone knowledgeable in this disease should be provided if genetic testing is being considered, particularly as high penetrance autosomal dominant alleles have been described. Genetic counseling relays the risks and benefits and consequences of genetic testing to the patient. It also informs the patient of the consequences of a positive, negative, or inconclusive genetic test result. Genetic counseling also includes information on the risk of transmission to offspring and may provide guidance for the patient regarding testing of other family members.8,25 Mehenni et al reported the molecular and clinical characteristics of 46 families with Peutz-Jeghers syndrome (PJS). The investigators demonstrated an increase in the mutational spectrum of LKB1/STK11 allelic variants worldwide and suggested this new information would be helpful for both clinical diagnosis and genetic counseling.15

Special Concerns

  • Follow-up care should be supervised by a gastroenterologist familiar with Peutz-Jeghers syndrome (PJS).
  • Consultation with surgery, oncology, urology, and gynecology specialists may be necessary in the management of patients with Peutz-Jeghers syndrome (PJS). Psychiatric consultation may also be beneficial, as mild depression has been reported to be common in individuals with PJS, although study by Woo et al did not show that patients were affected by their condition.26
  • Genetic counseling is recommended for affected patients and their families.
  • Breast cancer in patients with Peutz-Jeghers syndrome (PJS) may occur at a young age, and it may also be bilateral.1
 


More on Peutz-Jeghers Syndrome

Overview: Peutz-Jeghers Syndrome
Differential Diagnoses & Workup: Peutz-Jeghers Syndrome
Treatment & Medication: Peutz-Jeghers Syndrome
Follow-up: Peutz-Jeghers Syndrome
Multimedia: Peutz-Jeghers Syndrome
References
Further Reading
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References

  1. Trau H, Schewach-Millet M, Fisher BK, Tsur H. Peutz-Jeghers syndrome and bilateral breast carcinoma. Cancer. Aug 15 1982;50(4):788-92. [Medline].

  2. Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. Jun 11 1987;316(24):1511-4. [Medline].

  3. Gruber SB, Entius MM, Petersen GM, et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. Dec 1 1998;58(23):5267-70. [Medline]. [Full Text].

  4. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. Jun 1 1998;128(11):896-9. [Medline]. [Full Text].

  5. Boardman LA, Pittelkow MR, Couch FJ, et al. Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women. Medicine (Baltimore). Sep 2000;79(5):293-8. [Medline].

  6. Giardiello FM, Brensinger JD, Tersmette AC. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. Dec 2000;119(6):1447-53. [Medline].

  7. Brosens LA, van Hattem WA, Jansen M, et al. Gastrointestinal polyposis syndromes. Curr Mol Med. Feb 2007;7(1):29-46. [Medline].

  8. Davidson NO. Genetic testing in colorectal cancer: who, when, how and why. Keio J Med. Mar 2007;56(1):14-20. [Medline]. [Full Text].

  9. Westerman AM, Entius MM, de Baar E, et al. Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet. Apr 10 1999;353(9160):1211-5. [Medline].

  10. de Leng WW, Jansen M, Carvalho R, et al. Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. Clin Genet. Dec 2007;72(6):568-73. [Medline].

  11. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. Jan 8 1998;391(6663):184-7. [Medline].

  12. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. Jan 1998;18(1):38-43. [Medline].

  13. Katajisto P, Vaahtomeri K, Ekman N, et al. LKB1 signaling in mesenchymal cells required for suppression of gastrointestinal polyposis. Nat Genet. Apr 2008;40(4):455-9. [Medline].

  14. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. Sep 2006;63(18):2135-44. [Medline].

  15. Mehenni H, Resta N, Guanti G, et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci. Aug 2007;52(8):1924-33. [Medline].

  16. Rosner M, Hanneder M, Siegel N, Valli A, Fuchs C, Hengstschlager M. The mTOR pathway and its role in human genetic diseases. Mutat Res. Sep-Oct 2008;659(3):284-92. [Medline].

  17. Wei C, Amos CI, Zhang N, et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res. Feb 15 2008;14(4):1167-71. [Medline]. [Full Text].

  18. Tobi M, Kam M, Ullah N, et al. An anti-adenoma antibody, Adnab-9, may reflect the risk for neoplastic progression in familial hamartomatous polyposis syndromes. Dig Dis Sci. Mar 2008;53(3):723-9. [Medline].

  19. Sanchez-Cespedes M. A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. Oncogene. Dec 13 2007;26(57):7825-32. [Medline].

  20. Zuo YG, Xu KJ, Su B, Ho MG, Liu YH. Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome. Chin Med J (Engl). Jul 5 2007;120(13):1183-6. [Medline]. [Full Text].

  21. Canto MI. Screening and surveillance approaches in familial pancreatic cancer. Gastrointest Endosc Clin N Am. Jul 2008;18(3):535-53, x. [Medline].

  22. Greenhalf W, Malats N, Nilsson M, Bartsch D, Neoptolemos J. International registries of families at high risk of pancreatic cancer. Pancreatology. 2008;8(6):558-65. [Medline]. [Full Text].

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  24. Young S, Gooneratne S, Straus FH 2nd, et al. Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. Am J Surg Pathol. Jan 1995;19(1):50-8. [Medline].

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  30. Rebsdorf Pedersen I, Hartvigsen A, Fischer Hansen B, et al. Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register. Int J Colorectal Dis. 1994;9(4):177-9. [Medline].

  31. Wu YK, Tsai CH, Yang JC, Hwang MH. Gastroduodenal intussusception due to Peutz-Jeghers syndrome. A case report. Hepatogastroenterology. Apr 1994;41(2):134-6. [Medline].

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

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Further Reading

Best Evidence

Clinical Trials

National Guidelines Clearinghouse



 

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Keywords

Peutz-Jeghers syndrome, PJS, colon polyps, intestinal polyps, intestinal polyposis, hamartomatous intestinal polyposis, polyps-and-spots syndrome, perioral lentiginosis, hamartomatous polyps in association with mucocutaneous melanocytic macules, cancer of the GI tract, intestinal polyps, STK11 gene mutation, STK11/LKB1 gene mutation, serine/threonine kinase 11 gene, gastrointestinal polyps, GI polyps, hamartomas, intestinal lesions, intestinal cancer

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Contributor Information and Disclosures

Author

Sandeep Mukherjee, MB, BCh, MPH, FRCPC, Associate Professor, Department of Internal Medicine, Section of Gastroenterology and Hepatology, University of Nebraska Medical Center; Consulting Staff, Section of Gastroenterology and Hepatology, Veteran Affairs Medical Center
Sandeep Mukherjee, MB, BCh, MPH, FRCPC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Coauthor(s)

Andrea Duchini, MD, Assistant Professor of Medicine, Associate Medical Director of Liver Transplantation, Division of Transplantation, Department of Surgery, The Methodist Hospital-Cornell University, Houston
Andrea Duchini, MD is a member of the following medical societies: American College of Physicians, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy, and International Liver Transplantation Society
Disclosure: Nothing to disclose.

John M Carethers, MD, Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California at San Diego
John M Carethers, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Research, American College of Gastroenterology, American College of Physicians, and American Gastroenterological Association
Disclosure: Nothing to disclose.

Medical Editor

Robert J Fingerote, MD, MSc, BSc, FRCPC, Consultant, Clinical Evaluation Division, Biologic and Gene Therapies, Directorate Health Canada; Consulting Staff, Department of Medicine, Division of Gastroenterology, York Central Hospital, Richmond Hill, Ontario
Robert J Fingerote, MD, MSc, BSc, FRCPC is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, Canadian Medical Association, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Noel Williams, MD, Professor Emeritus, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; Professor, Department of Internal Medicine, Division of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada
Noel Williams, MD is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

CME Editor

Alex J Mechaber, MD, FACP, Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine
Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD, Clinical Professor of Medicine, Drexel University College of Medicine; Consulting Staff, Department of Medicine, Section of Gastroenterology and Hepatology, Hospital of the Medical College of Pennsylvania
Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law Medicine and Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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