What are the ACG guidelines on genetic testing and management of cancer syndromes in Peutz-Jeghers syndrome (PJS)?

Answer

The ACG released the following recommendations for the management of patients with hereditary gastrointestinal cancer syndromes—and they specifically discuss genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer^[15]:

The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer.
Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives.
When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives.
Genetic testing (including testing for STK11 mutations) should be conducted in the context of pretest and posttest genetic counseling to ensure the patient's informed decision making.
Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers (colon, stomach, small bowel, pancreas, breast, ovary, uterus, cervix, and testes. The risk for lung cancer is higher, but no specific recommendation has been made; therefore, consider obtaining an annual chest x-ray or computed tomography scan in smokers.)

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Media Gallery

This upper endoscopy image shows multiple gastric polyps.
This is a facial photograph of a patient with Peutz-Jeghers syndrome. Note the mucocutaneous pigmentation that crosses the vermilion border.
This photograph shows an oral pigmented lesion in a patient with Peutz-Jeghers syndrome.
This barium enema radiograph reveals intussusception in the descending colon.
The computed tomography scan demonstrates the classic yin-yang sign of an intussusceptum inside an intussuscipiens.
Abdominal ultrasonography reveals the classic target sign of an intussusceptum inside an intussuscipiens.
This woman has solar lentigo.
This postevacuation image is 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.
Intestinal polypoid adenomas. Tubular adenoma, low-power view. Courtesy of George H Warren, MD†.
This diagram demonstrates the role of STK11/LKB1 in neoplasia: regulation of cell polarity and metabolism. ACC = acetyl-CoA carboxylase; AMP/ATP = adenosine monophosphate/adenosine triphosphate; AMPK = AMP-activated protein kinase; CREB = CRE-binding protein; FAS = fatty acid synthase; MAPs = microtubule associated proteins; MARK = microtube affinity-regulating kinases; MO25 = calcium-binding protein 39; MRLC = myosin regulatory light chain; mTOR = mammalian target of rapamycin; SAD = synapses of the amphid-defective kinase; SIK = salt-induced kinase; STRAD = STE20-related kinase adaptor; TAU = tau protein; TORC = TOR complex; TSC 1/2 = tuberous sclerosis proteins 1 and 2.

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Author

Buu Anh T To, MD Resident Physician, Department of Surgery, Guthrie Program, Robert Packer Hospital

Buu Anh T To, MD is a member of the following medical societies: American College of Physicians, American Medical Association, Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Burt Cagir, MD, FACS Clinical Professor of Surgery, The Commonwealth Medical College; Director, General Surgery Residency Program, Robert Packer Hospital; Attending Surgeon, Robert Packer Hospital and Corning Hospital

Burt Cagir, MD, FACS is a member of the following medical societies: American College of Surgeons, American Medical Association, Society for Surgery of the Alimentary Tract

Disclosure: Nothing to disclose.

Chief Editor

Praveen K Roy, MD, AGAF Chief of Gastroenterology, Presbyterian Hospital; Medical Director of Endoscopy, Presbyterian Medical Group; Adjunct Associate Research Scientist, Lovelace Respiratory Research Institute; Clinical Assistant Professor of Medicine, University of New Mexico School of Medicine

Praveen K Roy, MD, AGAF is a member of the following medical societies: American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Additional Contributors

Seth Septer, DO Pediatric Gastroenterologist, Children’s Mercy Hospital Clinics; Assistant Professor, University of Missouri-Kansas City School of Medicine

Disclosure: Nothing to disclose.

Acknowledgements

Ruchir Agrawal, MD Chief, Allergy and Immunology, Aurora Sheboygan Clinic

Ruchir Agrawal, MD, is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, and American Medical Association

Disclosure: Nothing to disclose.

Vivek Bansal Armed Forces Medical College, India

Disclosure: Nothing to disclose.

John M Carethers, MD Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California, San Diego, School of Medicine

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.

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Andrea Duchini, MD Associate Professor of Medicine and Surgery, Director of Hepatology, University of Texas Medical Branch School of Medicine; Medical Director of Liver Transplantation, Department of Surgery, The Methodist Hospital

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.

Robert J Fingerote, MD, MSc, FRCPC Consultant, Clinical Evaluation Division, Biologic and Gene Therapies, Directorate Health Canada; Consulting Staff, Department of Medicine, Division of Gastroenterology, York Central Hospital, Ontario

Robert J Fingerote, MD, MSc, 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.

Rohit Kohli, MBBS, MS Assistant Professor of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center

Rohit Kohli, MBBS, MS is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, American Society of Transplantation, International Pediatric Transplant Association, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Johnson and Johnson Grant/research funds Consulting

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: Merck Honoraria Speaking and teaching; Ikaria Pharmaceuticals Honoraria Board membership

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System

Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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