Carlos Shared "Polyposis syndromes Playlist" - 4 Picmonics
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Polyposis syndromes Playlist
Familial adenomatous polyposis (FAP)
- Autosomal dominant mutation of APC/β-catenin (WNT signalling pathway) tumor suppressor gene on chromosome 5q21
- 2-hit hypothesis
- Thousands of polyps arise starting after puberty
- Pancolonic
- Always involves rectum
- Prophylactic colectomy or else 100% progress to CRC
- Associated with hepatoblastoma
Gardner syndrome
- Gardner syndrome is FAP with fibromatosis and osteomas (FAP + osseous and soft tissue tumors)
- Arises in retroperitoneum (desmoid) and locally destroys tissue
- Osteoma is a benign tumor of bone that usually arises in the skull.
- Congenital hypertrophy of retinal pigment epithelium
- Impacted/supernumerary teeth
Turcot syndrome
- FAP/Lynch syndrome + malignant CNS tumor (eg, medulloblastoma, glioma).
Juvenile polyposis syndrome
- Autosomal dominant syndrome in children
- Hamartomatous polyps that arise in children(< 5 years)
- Juvenile polyposis is characterized by multiple juvenile polyps in the stomach, small intestine and colon
- Large numbers of juvenile polyps increase the risk of progression to carcinoma (Colorectal Carcinoma)
