76.2 📚 國考版醫垫國考 / PGY OSCE

76.2.0.1 📌 Cram Sheet

76.2.0.1.1 🔥 高 yield 12
  1. Hallmarks 6+4 (Hanahan-Weinberg)
  2. Oncogene gain (1 hit) vs Tumor suppressor loss (Knudson 2-hit)
  3. BRCA1: breast 60-70%, ovarian 40-50%
  4. BRCA2: + prostate, pancreatic, male breast
  5. Lynch MMR: MLH1, MSH2, MSH6, PMS2 → CRC + endometrial + gastric
  6. Li-Fraumeni TP53: sarcoma, breast, brain, adrenal, leukemia
  7. FAP APC: 100% CRC by 40s
  8. MEN1: pituitary + parathyroid + pancreas
  9. MEN2A: MTC + pheo + parathyroid (RET)
  10. MEN2B: MTC + pheo + mucosal neuroma + Marfan
  11. VHL: hemangioblastoma + RCC + pheo
  12. PARP inhibitor for BRCA mutant
76.2.0.1.2 🔢 必背
Syndrome Gene Cancer
BRCA1/2 BRCA1, BRCA2 Breast, ovarian, prostate, pancreatic
Lynch MLH1, MSH2, MSH6, PMS2 CRC, endometrial, gastric
Li-Fraumeni TP53 Sarcoma, breast, brain, adrenal, leuk
FAP APC CRC (100%)
MEN1 MEN1 (menin) Pit, parathyroid, pancreas
MEN2A RET MTC, pheo, parathyroid
MEN2B RET MTC, pheo, mucosal neuroma
VHL VHL Hemangioblastoma, RCC, pheo
Cowden PTEN Breast, thyroid, endometrial
Peutz-Jeghers STK11 GI hamartoma, breast, GI cancer
Retinoblastoma RB1 Eye, osteosarcoma

76.2.0.2 ⭐ 高 yield

76.2.0.2.1 Knudson 2-Hit Hypothesis
  • Tumor suppressor 兩個 alleles 郜倱掻
  • Inherited cancer: 1st hit germline + 2nd hit somatic
  • Sporadic: 兩 hits somatic
76.2.0.2.2 Translocations
Translocation Cancer
t(9;22) BCR-ABL CML, ALL
t(15;17) PML-RARA APL (M3)
t(8;14) MYC Burkitt
t(14;18) BCL2 Follicular
t(11;14) Cyclin D1 Mantle cell
t(11;22) EWS-FLI1 Ewing sarcoma
t(2;5) NPM-ALK ALK+ ALCL
EML4-ALK ALK+ NSCLC
76.2.0.2.3 Lynch Diagnosis (Bethesda guidelines)
  • CRC < 50 yo
  • Synchronous / metachronous Lynch-related cancer
  • MSI-H histology features < 60 yo
  • 1+ first-degree relative Lynch cancer < 50
  • 2+ first/second-degree Lynch cancer
76.2.0.2.4 MEN Tumor Spectrum 速蚘
Pit Parathyroid Pancreas MTC Pheo Mucosal
MEN1 + + + − − −
MEN2A − + − + + −
MEN2B − − − + + +

76.2.0.3 🎯 自我檢枬

  1. Knudson 2-hit? → Tumor suppressor 兩 alleles 郜倱掻
  2. BRCA1 vs BRCA2 cancers? → BRCA1 breast/ovarian; BRCA2 + prostate/pancreatic/male
  3. Lynch genes 4? → MLH1, MSH2, MSH6, PMS2
  4. Li-Fraumeni gene? → TP53
  5. APC syndrome? → FAP
  6. MEN1 3 P? → Pit, parathyroid, pancreas
  7. MEN2A vs 2B? → 2B mucosal neuroma + Marfan
  8. VHL 3 cancers? → Hemangioblastoma, RCC, pheo
  9. t(15;17)? → APL
  10. t(8;14)? → Burkitt
  11. PARP inhibitor adapt? → BRCA mutation
  12. MSI-H drug? → Pembrolizumab (Lynch + sporadic MSI-H)

⚠ AI 草皿。