🎙️ Peutz–Jeghers syndrome скачать в хорошем качестве

🎙️ Peutz–Jeghers syndrome

Peutz–Jeghers syndrome is a rare but clinically significant inherited condition caused by a mutation in the STK11 gene, also known as LKB1. This gene functions as a tumor suppressor and plays a key role in regulating cell growth and apoptosis. When mutated, it leads to the development of hamartomatous polyps throughout the gastrointestinal tract — most commonly in the small intestine, stomach, and colon. A distinctive feature of the syndrome is the presence of pigmented macules on the lips, oral mucosa, fingers, and sometimes around the eyes and nose. These spots often appear in early childhood and may precede the onset of gastrointestinal symptoms. 🔬 But the greatest concern is not the polyps themselves — it’s the markedly increased risk of malignancies. By the age of 70, individuals with Peutz–Jeghers syndrome face: • Up to a 40% risk of colorectal cancer • Around 36% risk of pancreatic cancer • Over 50% risk of breast cancer • Increased risks of cervical, ovarian, gastric, testicular, and lung cancers 📅 Regular surveillance is essential and should include: • Upper and lower endoscopy every 2–3 years starting in childhood • Abdominal MRI or CT starting at age 25 • Breast MRI and mammography starting at age 25 • Annual gynecologic evaluation for women 🏥 At the Loginov Moscow Clinical Scientific Center, we provide comprehensive care for patients with Peutz–Jeghers syndrome, including: • Genetic counseling • Advanced endoscopic polyp removal • Multidisciplinary cancer screening and risk management • Surgical treatment when necessary Hereditary syndromes are not a sentence — they’re a signal for timely diagnosis and proactive care. 🔗 Subscribe for more on hereditary GI disorders, modern colorectal surgery, and personalized oncology.