Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

initially confirmed polyposis: symptomatic or asymptomatic

1st line – initial surveillance endoscopy + polyp excision

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ACUTE
|
initially confirmed polyposis: symptomatic or asymptomatic
1st line – 

initial surveillance endoscopy + polyp excision

Small intestinal surveillance is recommended for all patients who meet the diagnostic criteria. This may be performed using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE).

Guidelines differ with regard to the size threshold at which asymptomatic polyps of the small bowel should be removed, although all concur that any symptomatic polyps should be excised regardless of size. US guidelines recommend removal of asymptomatic polyps ≥10 millimetres in diameter, whereas European guidelines recommend a higher threshold of >15-20 millimetres.[13][14][19][20][22][33] Polypectomy is achieved via upper endoscopy or single or double balloon enteroscopy depending on the location of polyps. One series of 34 patients with small bowel hamartomatous polyposis found that double balloon enteroscopy was successful in more than 80% of patients and had an acceptable margin of safety.[39] Surgery may be required in the presence of neoplasia, or if polyp size or number preclude endoscopic removal. It may also be required in patients with intussusception or small bowel obstruction. Some authorities recommend an attempt to clear the small intestine of polyps during laparotomy by means of intraoperative endoscopy with polypectomy or, for larger polyps, by means of enterotomy. This aggressive approach to the diagnosis and resection of small bowel polyps ('clean sweep') has been associated with a longer interval between subsequent surgeries and a decrease in total operations.[14][35][36][37]

There are limited data to advise on the size of polyps which merit polypectomy in the stomach or colon.[13] The US Multi-Society Task Force on Colorectal Cancer is the only organisation to provide a specific recommendation, advising removal of polyps >5 millimetres in diameter and an attempt to remove all polyps if endoscopically feasible.[14] Colectomy is sometimes necessary and should be considered if colonoscopic management is difficult and especially if neoplastic change is found in colonic polyps.[4][Figure caption and citation for the preceding image starts]: Small bowel hamartomatous polyp identified on capsule endoscopyFrom the collection of Dr Carol A. Burke, used with permission [Citation ends].com.bmj.content.model.Caption@12f115ac[Figure caption and citation for the preceding image starts]: Polypoid mass in the small bowelFrom the collection of Dr James Church, used with permission [Citation ends].com.bmj.content.model.Caption@4097eafa[Figure caption and citation for the preceding image starts]: Characteristic serosal dimpling resulting from a pedunculated hamartoma in the small bowel of a patient with PJSFrom the collection of Dr James Church, used with permission [Citation ends].com.bmj.content.model.Caption@31ec7ffd[Figure caption and citation for the preceding image starts]: Intra-operative endoscopyFrom the collection of Dr James Church, used with permission [Citation ends].com.bmj.content.model.Caption@6663b227[Figure caption and citation for the preceding image starts]: Hamartomatous polyp harvest following 'clean sweep'From the collection of Dr James Church, used with permission [Citation ends].com.bmj.content.model.Caption@639908e1

ONGOING

following initial surveillance colonoscopy

1st line – ongoing gastrointestinal surveillance ± polyp excision

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ONGOING
|
following initial surveillance colonoscopy
1st line – 

ongoing gastrointestinal surveillance ± polyp excision

Endoscopic surveillance is recommended to minimise the risk of complications such as obstruction, bleeding, or cancer. However, data are limited and the outcome on cancer incidence or mortality is unknown.

Surveillance protocols are determined by the risk of gastrointestinal cancer, based upon the presence, number, and size of polyps at index endoscopy; age and family history are also considerations.

Video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) of the small bowel should begin by age 8 years (or earlier if the patient is symptomatic).[14][19][20][33] Capsule endoscopy is safe to use in individuals with PJS and small bowel polyposis who do not have obstructive symptoms. If a concern for capsule retention is present, a patency capsule should be utilised. If no polyps are found at the initial examination, US guidelines recommend that small bowel surveillance should resume at age 18 years and continue every 2-3 years throughout life, whereas European guidelines advise repeating it every 3 years from the outset.[13][14][19][20][22][33]

Oesophagogastroduodenoscopy (OGD) and colonoscopy to look for upper gastrointestinal and colorectal polyps should be done by age 8 years. If polyps are found, both examinations are repeated every 3 years; if no polyps are detected, a subsequent baseline examination is conducted at age 18 years, and every 3 years thereafter.[13][14][19]​​​​​

Guidelines differ with regard to the size threshold at which asymptomatic polyps of the small bowel should be removed, although all concur that any symptomatic polyps should be excised regardless of size. US guidelines recommend removal of asymptomatic polyps ≥10 millimetres in diameter, whereas European guidelines recommend a higher threshold of >15-20 millimetres.[13][14][19][20][22][33]

Polypectomy is achieved via upper endoscopy or single or double balloon enteroscopy depending on the location of polyps. One series of 34 patients with small bowel hamartomatous polyposis found that double balloon enteroscopy was successful in more than 80% of patients and had an acceptable margin of safety.[39] Surgery may be required in the presence of neoplasia, or if polyp size or number preclude endoscopic removal. It may also be required in patients with intussusception or small bowel obstruction. Some authorities recommend an attempt to clear the small intestine of polyps during laparotomy by means of intraoperative endoscopy with polypectomy or, for larger polyps, by means of enterotomy. This aggressive approach to the diagnosis and resection of small bowel polyps ('clean sweep') has been associated with a longer interval between subsequent surgeries and a decrease in total operations.[14][35][36][37]

There are limited data to advise on the size of polyps which merit polypectomy in the stomach or colon.[13] The US Multi-Society Task Force on Colorectal Cancer is the only organisation to provide a specific recommendation, advising removal of polyps >5 millimetres in diameter and an attempt to remove all polyps if endoscopically feasible.[14] Colectomy is sometimes necessary and should be considered if colonoscopic management is difficult and especially if neoplastic change is found in colonic polyps.[4][Figure caption and citation for the preceding image starts]: Small bowel hamartomatous polyp identified on capsule endoscopyFrom the collection of Dr Carol A. Burke, used with permission [Citation ends].com.bmj.content.model.Caption@43b82402

Plus – surveillance for associated extra-intestinal malignancy

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ONGOING
|
following initial surveillance colonoscopy
Plus – 

surveillance for associated extra-intestinal malignancy

Treatment recommended for ALL patients in selected patient group

In patients with PJS the lifetime risk for developing cancer of any form is estimated to be up to 93%.[1] Lifetime risks for specific cancers include breast (40% to 85%), pancreas (11% to 36%), ovary (21%), lung (7% to 17%), cervical (10% to 23%), and uterus (9%).[14] Male children and adolescents, and less commonly younger adults, are also at risk for testicular cancer.[16] Surveillance guidelines for extra-intestinal cancers in patients with Peutz-Jeghers syndrome have been published.[14][19][20][33]

Breast cancer: The risk of breast cancer in women with PJS is similar to carriers of BRCA1 or BRCA2 mutations (40% to 85% lifetime risk).[14] The US Multi-Society Task Force on Colorectal Cancer advises monthly breast self-examination starting at age 18 years, biannual clinical breast examination starting at age 25 years, annual breast magnetic resonance imaging (MRI) from age 25-29 years, and mammography with consideration of tomosynthesis (3-dimensional mammography) alternating every 6 months with breast MRI with contrast from age 30-75 years.[14]​​ The National Comprehensive Cancer Network (NCCN) recommends mammogram and MRI) annually along with a clinical breast examination every 6 months, starting at approximately age 30 years.[33]​ Prophylactic mastectomy can be considered on a case-by-case basis.[14]

Pancreatic cancer: Pancreatic cancer is the third most common malignancy (after breast and colorectal) in people with PJS, with an 11% to 36% lifetime risk of pancreatic ductal adenocarcinoma.[14][33]​ Surveillance via endoscopic ultrasound (EUS) and/or MRI or magnetic resonance cholangiopancreatography (MRCP) is recommended. The International Cancer of the Pancreas Screening Consortium recommends pancreatic imaging every 1-2 years starting from age 40 years.[14][34]​ The NCCN recommends annual imaging of the pancreas with either EUS or MRI/MRCP beginning at age 30-35 years.[33]

Gynaecological cancers: The lifetime risks for ovarian, uterine, and cervical cancer are estimated at 21%, 9%, and 10% to 23%, respectively.[14] Guidelines differ with regard to the recommended age at which screening with pelvic examination, cervical smear, and transvaginal ultrasound should start, with the NCCN advising a starting age of approximately 18-20 years and other societies a later starting age of 25 years.[4][33]​​​ Almost all ovarian cancers in patients with PJS are sex cord tumours with annular tubules (SCTAT). These tumours can cause irregular menstruation and precocious puberty. Annual physical examination to check for precocious puberty is recommended, starting at age 8 years, as well as yearly pelvic examination and pelvic ultrasound from the age of 18-25 years.[4][33]​​​ For uterine cancer surveillance, annual pelvic examination is recommended from age 18-25 years. The American College of Gastroenterology (ACG) advises annual transvaginal ultrasound beginning at age 25 years.[4] The NCCN does not recommend routine ultrasound screening, but advises endometrial biopsy in the presence of abnormal bleeding.[33] A high proportion of cervical cancers in patients with PJS are minimal deviation adenocarcinoma (formerly known as adenoma malignum), a rare, well differentiated adenocarcinoma that is difficult to detect with liquid-based cytology and has a poor prognosis. Guidelines recommend annual pelvic examination and liquid-based cytology from the age of 18-25 years (again, guidelines differ with regard to the age at which this should start).[4][14][33]​​​ The NCCN also advocates consideration of total hysterectomy once a woman has completed her family.[33]

Testicular cancer: Male patients with PJS have a 9% lifetime risk of developing Sertoli cell tumours, with a mean age at diagnosis of 9 years.[14][33]​ Annual testicular examination and observation for feminising changes is recommended, with follow-up testicular ultrasound if abnormalities are detected. The age at which this should start is controversial; the US Multi-Society Task Force on Colorectal Cancer advises screening from birth, whereas the NCCN recommends a higher starting age of approximately 10 years.[14][33]

Lung cancer: The estimated lifetime risk of lung cancer in patients with PJS is 7% to 17%.[4] Guidelines differ in recommendations for surveillance. The US Multi-Society Task Force on Colorectal Cancer and NCCN simply recommend educating patients about symptoms and smoking cessation.[14][33] However, the American College of Chest Physicians, American Society of Clinical Oncology, and American Cancer Society advise low-dose computed tomography (CT) annually from age 55-74 years (based on the level of cumulative risk in patients with PJS, which is similar to people with a more than 30 pack-year history of smoking who have quit for 10-15 years).[14] The evidence to support these recommendations is not robust. It is the opinion of the authors that surveillance should be individualised based on phenotype, expected age and incidence of disease, and family history.

Consider – laser/light therapy for mucocutaneous pigmentation

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ONGOING
|
following initial surveillance colonoscopy
Consider – 

laser/light therapy for mucocutaneous pigmentation

Additional treatment recommended for SOME patients in selected patient group

Where cosmetic appearance is significant or distressing, mucocutaneous pigmentation may be treated with laser or intense light source therapy.[5][40][41]

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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