Von Hippel-Lindau disease
폰 히펠-린다우 병(von Hippel-Lindau disease, VHL)은 여러 양성 종양과 악성 종양이 발생하는 AD 유전 질환이다.
임상 양상
- 원인: deletion of VHL gene (tumor suppressor) on chromosome 3 (3p)
- Abdominopelvic
- Kidney: Renal cysts(75%), RCC(40%, an earlier age (mean 39 years)
- Adrenal pheochromocytoma(25-30%), paraganglioma(15%)
- Pancreas: pancreatic cyst(~40%), pNET(~12.5%), pancreatic serous cystadenoma(~12.5% ), pancreas adenocarcinoma(rare)
- Liver: liver cysts
- CNS hemangioblastoma(~70%, cerebellar(~60%), spinal cord (~30%, m/c in cervical and thoracic cord), choroid plexus papilloma
- Head and neck: retinal hemangioblastoma(most common presenting feature, occurring in 45-60%), endolymphatic sac tumors(ELST)(10-15%)
- HIPPEL로 암기
- H(hemangioblastoma)
- I(increased risk of RCC)
- P(pheocromocytoma)
- P(pancreatic cyst)
- E(eye, retinal hemangioblastoma)/(Endolymphatic tumor)
- L(liver cyst)