| 50 51 | See page 67 for references Cancer risks The following table breaks down the different cancers associated with STK11 mutations and the associated risk by age. Cancer Risk By age Breast 15% 33% ~50% 45%–50% 50 years 60 years 70 years Lifetime risk Colon 39% Lifetime risk Pancreatic 5% 17% 11%–36% 50 years 70 years Lifetime risk Gastric 29% Lifetime risk Ovarian 18%–21% Lifetime risk Small intestine 13% Lifetime risk Cervical 10% Lifetime risk Endometrial 9% Lifetime risk Testicular 9% Lifetime risk Lung 15%–17% Lifetime risk Information in table from: McGarrity et al (2001, updated 2016). Potential management options NCCN recommends that patients be managed at centers with multidisciplinary expertise in PJS. For women · ·Alert women to the importance of self-breast examination beginning at age 18 and any breast changes should be promptly reported to a healthcare provider. · ·Conduct clinical breast exam every 6 months, beginning at age 25. · ·Perform annual mammogram and/or breast MRI, beginning at age 25 (or depending on earliest age at which breast cancer is diagnosed in the family). · ·For women ages 25 to 29, annual breast MRIs are the preferred screening method. · ·For women ages 30 to 75, annual MRI and mammogram with consideration of tomosynthesis is recommended. · ·For women over the age of 75, breast cancer screening can be considered on an individual basis. STK11 gene summary Peutz-Jeghers (PJS) Gene name STK11 Associated syndrome Peutz-Jeghers (PJS) Primary associated cancers Breast, colorectal, pancreatic Frequency 1 in 25,000 – 1 in 300,000 Inheritance pattern Autosomal dominant Overview · ·Approximately 45% of affected individuals have no family history of PJS. · ·Nearly 100% of individuals who test positive for a mutation in STK11 have a clinical diagnosis of PJS. · ·Hamartomatous gastrointestinal polyps are classically seen in PJS. However, Individuals with PJS can develop other types of polyps including polyps that show adenomatous changes and polyps similar in histology to hyperplastic polyps. About Peutz-Jeghers Peutz-Jeghers (PJS) is characterized by gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and increased risk of several types of cancer (colorectal, gastric, pancreatic, breast, and ovarian). PJS-type hamartomatous polyps occur most commonly in the small intestine, but can also be found in the large bowel, stomach, renal pelvis, bronchus, gallbladder, nasal passages, and ureter. GI polyps can result in chronic intestinal obstruction, intussusception, bleeding, and anemia, requiring surgical intervention. Mucocutaneous hyperpigmentations present in childhood appear as dark blue to dark brown spots often occurring around the mouth, nostrils, perianal area, and fingers. Males with PJS can develop tumors of the testes, which, if untreated, can lead to excess growth of breast tissue, short stature, and advanced skeletal age. Females with PJS are at risk for sex cord tumors with annular tubules, and a rare aggressive form of cervical cancer.