Flashcards in 240b cancer genetic syndromes Deck (10):
Juvenile Polyposis Syndrome - presentation? risk?
multiple juvenile polyps in GI tract, ^ risk of adenocarcinoma.
autosomal dominant syndrome featuring multiple nonmalignant hamartomas throughout GI tract, along with hyperpigmented mouth, lips, hands, genitalia. Associated with ^ risk of CRC and other visceral malignancies.
Familial adenomatous polyposis (FAP)
autosomal dominant mutation of APC gene on
chromosome 5q. 2-hit hypothesis. 100% progress to CRC unless colon is resected. Thousands of
polyps arise starting at a young age; pancolonic; always involves rectum.
FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium.
Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)
autosomal dominant mutation of DNA mismatch repair genes. ~ 80% progress to CRC. Proximal colon is always involved.
FAP + malignant CNS tumor. Turcot = Turban.
von Hippel-Lindau disease
Disorder characterized by development of numerous tumors, both benign and malignant. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p) --> HIF constitutive expression --> angiogenic growth factors. AD. (Von Hippel-Lindau = 3 words for chromosome 3.)
Cavernous hemangiomas in skin, mucosa, organs; bilateral renal cell carcinomas; hemangioblastoma (high vascularity with hyperchromatic nuclei) in retina, brain stem, cerebellum; and pheochromocytomas.
MEN 1 = 3 P’s (from cephalad to caudad:
Pituitary, Parathyroid, and Pancreas;
remember by drawing a diamond).
pituitary tumor = GH, prolactin
Pancreas tumor = ZES, insulinomas, VIPomas
presents with kidney stones and stomach ulcers
MEN 2A = 2 P’s (Parathyroids and
Pheochromocytoma; remember by drawing a
Medullary thyroid carcinoma - secretes calcitonin
mutation in germline RET (neural crest cells)