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A child with mucocutaneous pigmentation (lips, buccal mucosa, fingers) has recurrent episodes of abdominal pain from intussusception. Colonoscopy reveals hamartomatous polyps.
AD; STK11/LKB1 (serine/threonine kinase)
- Mucocutaneous melanin pigmentation (lips, buccal, fingers - fades with age)
- Hamartomatous polyps (GI tract)
- Intussusception, obstruction, bleeding
Cancer Risks (lifetime):
- Breast: 45-50%
- Colorectal: 39%
- Pancreatic: 11-36%
- Gastric: 29%
- Ovarian: 21% (characteristically sex cord tumors with annular tubules, SCTAT)
- Cervical: Adenoma malignum
- Clinical diagnosis with any one of: 2 or more histologically confirmed PJS-type hamartomatous polyps, any number of such polyps plus characteristic mucocutaneous pigmentation, any polyps with a family history of PJS, or characteristic pigmentation with a family history
- Polyps show the pathognomonic arborizing smooth-muscle core within hamartomatous tissue
- Confirm with germline STK11 (LKB1) testing, which also enables predictive testing of at-risk relatives
- Multi-organ surveillance is central given the broad cancer spectrum: GI surveillance with upper endoscopy, colonoscopy, and small-bowel imaging (video capsule or MR enterography) beginning in childhood to adolescence and repeated every few years
- Breast surveillance with annual MRI and mammography starting around age 25, plus pancreatic surveillance with MRI/MRCP or endoscopic ultrasound
- Gynecologic surveillance for ovarian sex cord tumors with annular tubules and cervical adenoma malignum; testicular exam in males for Sertoli cell tumors
- Polypectomy of larger polyps to prevent intussusception, obstruction, and bleeding
"You Peut (Poot) after eating a STeaK": STK11 encodes a serine/threonine kinase. "Pee-yew!" (after farting): think GI. Can cause intussusception in an adult ("STuK").
Pancreatic, Colon (PeuPeu), breast cancers are common. "Jug-hers" = cancer of her jugs (breast cancer). Hyperpigmentation of lips and hamartomas in GI are the hallmarks.