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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
Always involves rectum
Prophylactic colectomy or else 100% progress to CRC
Associated with hepatoblastoma
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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
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Turcot syndrome
FAP/Lynch syndrome + malignant CNS tumor (eg, medulloblastoma, glioma).
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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)
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