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13 Cards in this Set
- Front
- Back
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Familial adenomatous polyposis (FAP)
1. Genetics? 2. Incidence? 3. presentation? 4. associated tumors? |
FAP
1. 95% have mutations in APC 2. MC polyposis syndrome, 1/10K 3. rectal bleeding- TA's fill colon by age 35, lead to CA by 50 4. Gardner syndrome- osteomas, epidermoid cysts, fibromas, desmoid tumors |
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Peutz-Jeghers syndrome
1. Genetics? 2. Incidence? 3. presentation? 4. associated tumors? |
Peutz-Jeghers
1. inactivation of STK11/LKB1 gene 2. 1/100K 3. mucocutaneous pigmented lesions at birth, SI hamartomatous polyps. 4. In adulthood prone to adenocarcinomas of GI, breast, lung, pancreas, GYN |
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Juvenile polyposis coli syndrome
1. Genetics? 2. Incidence? 3. presentation? 4. associated tumors? |
JPS
1. SMAD4 or BMPR1A 2. 1/100K 3. child with >5 juvenile polyps in the colon, extracolonic polyps, or polyp and FH. Juvenile polyps are large with mixed inflammation and expanded LP, cystically dilated glands. High risk for GI malignancies 4. |
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Cowden's disease
Familial adenomatous polyposis (FAP) 1. Genetics? 2. Incidence? 3. presentation? 4. associated tumors? |
CD
1. PTEN (chr 10) 2. 1/200K 3. multiple facial tricholemmomas around mouth and eyes, cafe au lait spots, vitiligo, epidermoid cysts, skin CAs, GI tract polyps (mostly juvenile polyps) 4.50% lifetime risk of breast and 10% risk of thyroid CA |
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Li Fraumeni syndrome
1. gene 2. MC tumors |
1. TP53 (17p)
2. sarcomas, breast, adrenocortical, CNS (choroid plexus carcinomas) |
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Fanconi Anemia
1. gene 2. MC tumors |
1. BRCA2, FANCA, 13 others
2. AML, MDS result in aplastic anemia |
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MEN1
1. gene 2. mc tumors |
1. MEN1 (11q)
2. affects parathyroid, pancreas and pituitary= MC is parathyroid tumors in 95% |
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MEN2A
1. gene 2. mc tumors |
1. RET
2. medullary thyroid CA, pheochromocytoma, parathyroid hyperplasia, 90% get thyroid CA |
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MEN2B
1. gene 2. mc tumors |
1. RET
2. medullary thyroid CA, pheochromocytoma, also GI tract ganglioneuromas |
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Muir Torre Syn
1. a variant of what? 2. genes? 3. assciated tumors? |
1. HNPCC, AD inheritance
2. MLH1, MSH2 3. All HNPCC tumors, plus subacious adenomas/CA, keratoacanthomas |
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Von Hippel Lindau
1. genetics 2. assc tumors |
1. VHL , incidence is 1:36,000, AD, on 3p
2. Pheochromocytoma, RCC (clear cell). B9: renal/pancreatic, & epidydimal cystadenomas Hemangioblastomas in brain- produces EPO |
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Carney's syndrome
1. 2. 3. |
Carny's syndrome
1. Myxomas of heart/skin 2. adrenal hypercortisolism 3. schwannomas/Sertoli leydig tumors |
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carney's complex
Women with: 1. 2. 3. |
carney's complex
1. extra-adrenal paragangliomas 2. GIST 3. pulmonary chondromas |
