Constipation, polyps, or cancer? Let PTEN predict your future.

摘要: The inherited hamartoma polyposis syndromes encompass several distinct clinical with different genetic bases, Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba (BRRS), juvenile (JPS), and Peutz-Jeghers (PJS). Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated 80% of CS 60% BRRS. JPS caused by inMADH4 BMPR1A, two members the TGFB superfamily. LKB1 (STK11) are subset PJS. number, distribution, histologic type polyps differ amongst these as do component cancer risks. While rare, usually asymptomatic, hamartomatous felt to be CS. Hamartomatous prominent symptomatic Polyposis, which can quite symptomatic, cardinal feature PJS JPS. Interestingly, glycogenic acanthosis esophagus highly predictive presence PTEN mutation. mutation positive have been shown at increased risk breast, thyroid, endometrial cancer. BRRS least breast cancer, possibly that thyroid well. In contrast, gastrointestinal cancers particular. Thus, molecular-based diagnoses differentiate each important for medical management.