Complications
Male children and adolescents, and less commonly younger adults are at risk for testicular tumors of sex-cord and Sertoli cell type that are associated with gynecomastia and sexual precocity. The average age of diagnosis for testicular cancer is 9 years, with a range of 3 to 20 years.[14]
Annual testicular exam and observation for feminizing 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 National Comprehensive Cancer Network recommends a higher starting age of approximately 10 years.[14][34]
People with PJS have a 39% lifetime risk of developing colorectal cancer. Colon cancer has been reported in people with PJS in the teenage years, but the majority of patients present after the age of 27 years.[16]
Colonoscopy should be done by age 8 years. If polyps are found, colonoscopy should be repeated every 3 years; if no polyps are detected, a subsequent baseline exam is conducted at age 18 years, and every 3 years thereafter.[13][14][20]
There are limited data to advise on the size of polyps which merit polypectomy in the colon.[13] The US Multi-Society Task Force on Colorectal Cancer is the only organization to provide a specific recommendation, advising removal of polyps >5 millimeters 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]
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-exam starting at age 18 years, biannual clinical breast exam 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 exam every 6 months, starting at approximately age 30 years.[34] Prophylactic mastectomy can be considered on a case-by-case basis.[14]
Pancreatic cancer is the third most common malignancy (after breast and colorectal cancer) in people with PJS, with an 11% to 36% lifetime risk of pancreatic ductal adenocarcinoma.[14][34] It has been reported to occur as young as age 16 years, with a range of 16 to 60 years. More than 95% of patients will present after age 24 years, with average age of onset in the 5th decade.[16] Surveillance via endoscopic ultrasound (EUS) and/or magnetic resonance imaging (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][35] The National Comprehensive Cancer Network recommends annual imaging of the pancreas with either EUS or MRI/MRCP beginning at age 30-35 years.[34]
People with PJS have a 29% lifetime risk of developing stomach cancer. The average age of diagnosis is 30 years, but cases have been reported in the teenage years and 20s.[16]
Surveillance with esophagogastroduodenoscopy (EGD) should begin by age 8 years.[13][14][20] There are limited data to advise on the size of polyps which merit polypectomy in the stomach.[13] The US Multi-Society Task Force on Colorectal Cancer is the only organization to provide a specific recommendation, advising removal of polyps >5 millimeters in diameter and an attempt to remove all polyps if endoscopically feasible.[14]
Women with PJS have a 21% lifetime risk of developing ovarian cancer.[14] The mean age of diagnosis is 28 years. Almost all ovarian cancers in patients with PJS are sex cord tumors with annular tubules (SCTAT). These tumors can cause irregular menstruation and precocious puberty. Annual physical exam to check for precocious puberty is recommended, starting at age 8 years, as well as yearly pelvic exam and pelvic ultrasound from the age of 18-25 years.[4][34]
Patients with PJS have a 7% to 17% lifetime risk of developing lung cancer.[14] Guidelines differ in recommendations for surveillance. The US Multi-Society Task Force on Colorectal Cancer and National Comprehensive Cancer Network simply recommend educating patients about symptoms and smoking cessation.[14][34] 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 to 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]
Patients with PJS have a 13% lifetime risk of developing small bowel cancer. The average age of diagnosis is 42 years, but patients have been reported in the teenage years and 20s.[16]
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). 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 utilized. If no polyps are found at the initial exam, 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][20][21][23][34]
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 millimeters in diameter, whereas European guidelines recommend a higher threshold of >15-20 millimeters.[13][14][20][21][23][34] Polypectomy is achieved via upper endoscopy or single or double balloon enteroscopy depending on the location of polyps. 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][37][38][39]
Women with PJS have a 10% to 23% lifetime risk of developing cervical cancer. The mean age of diagnosis is 34 years.[16] Mucinous cervical adenocarcinomas, squamous cell carcinoma, and minimal deviation adenocarcinoma (formerly known as cervical adenoma malignum) have all been reported in PJS. A high proportion of cervical cancers in patients with PJS are minimal deviation adenocarcinoma, a rare, well differentiated adenocarcinoma that is difficult to detect with liquid-based cytology and has a poor prognosis. Guidelines recommend annual pelvic exam and liquid-based cytology from the age of 18-25 years (guidelines differ with regard to the age at which this should start).[4][14][34] The National Comprehensive Cancer Network also advocates consideration of total hysterectomy once a woman has completed her family.[34]
Women with PJS have a 9% lifetime risk of developing uterine cancer.[14] Surveillance with annual pelvic exam is recommended from age 18-25 years. The American College of Gastroenterology advises annual transvaginal ultrasound beginning at age 25 years.[4] The National Comprehensive Cancer Network does not recommend routine ultrasound screening, but advises endometrial biopsy in the presence of abnormal bleeding.[34]
Patients with PJS have a 0.5% lifetime risk of developing esophageal cancer.[16] Surveillance with esophagogastroduodenoscopy (EGD) should begin by age 8 years.[13][14][20] There are limited data to advise on the size of polyps which merit polypectomy in the upper gastrointestinal tract.[13] The US Multi-Society Task Force on Colorectal Cancer is the only organization to provide a specific recommendation, advising removal of polyps >5 millimeters in diameter and an attempt to remove all polyps if endoscopically feasible.[14]
The major life-threatening complications to individuals with PJS are cancer and small bowel obstruction. Polyp growth begins in childhood by age 10 years (33%), with most experiencing symptoms such as bleeding, abdominal pain, intussusception, or obstruction (68%) by age 18 years.[14] Historical data have shown that 68% of patients with PJS have undergone laparotomy by the age of 18 years. By the age of 10 years, 30% have required a laparotomy.[51] Small bowel obstruction is one of the leading causes of surgery and can be minimized by clearance of polyps within the small bowel.[37][38][39] One retrospective series suggests that routine screening and polypectomy of the gastrointestinal tract can prevent the need for emergency surgery.[40] Recurrent obstruction requiring repeat laparotomy is common and is performed between 1 to 4 times per patient.[52]
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). 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 utilized. If no polyps are found at the initial exam, 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][20][21][23][34]
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 millimeters in diameter, whereas European guidelines recommend a higher threshold of >15-20 millimeters.[13][14][20][21][23][34] Polypectomy is achieved via upper endoscopy or single or double balloon enteroscopy depending on the location of polyps. 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][37][38][39]
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