Difference between revisions of "Von Hippel-Lindau disease"
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*[[Hemangioblastoma]]s. | *[[Hemangioblastoma]]s. | ||
*Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] ([[clear cell renal cell carcinoma]]). | *Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] ([[clear cell renal cell carcinoma]]). | ||
*[[Pheochromocytoma]]. | *[[Pheochromocytoma]] & [[pancreatic neuroendocrine tumour]]s.<ref name=pmid22370733>{{Cite journal | last1 = Charlesworth | first1 = M. | last2 = Verbeke | first2 = CS. | last3 = Falk | first3 = GA. | last4 = Walsh | first4 = M. | last5 = Smith | first5 = AM. | last6 = Morris-Stiff | first6 = G. | title = Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature. | journal = J Gastrointest Surg | volume = | issue = | pages = | month = Feb | year = 2012 | doi = 10.1007/s11605-012-1847-0 | PMID = 22370733 }}</ref> | ||
*Port-wine stains, skin lesion - looks like spilled wine; think [http://commons.wikimedia.org/wiki/File:Gorbatschow_DR-Forum_129_b2.jpg ''Mikhail Gorbachev'']. | *Port-wine stains, skin lesion - looks like spilled wine; think [http://commons.wikimedia.org/wiki/File:Gorbatschow_DR-Forum_129_b2.jpg ''Mikhail Gorbachev'']. | ||
*Eye dysfunction and Endolymphatic sac tumours.<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref> | *Eye dysfunction and Endolymphatic sac tumours.<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref> | ||
Revision as of 13:25, 30 March 2012
The von Hippel-Lindau disease, also von Hippel-Lindau syndrome is characterized by (mnemonic: HIPPEL):[1]
- Hemangioblastomas.
- Increased renal cancer (clear cell renal cell carcinoma).
- Pheochromocytoma & pancreatic neuroendocrine tumours.[2]
- Port-wine stains, skin lesion - looks like spilled wine; think Mikhail Gorbachev.
- Eye dysfunction and Endolymphatic sac tumours.[3]
- Liver cysts, pancreas cysts (serous microcystic adenoma), pancreatic islet cell tumours & kidney cysts.
Bare bones version:
- Hippel-Lindau, with H and L as above.
Prevalence
- 1 in 40,000 live births.[6]
Pancreatic islet cell tumours
In VHL these have distinct morphology:
- Clear cells[7] - unusual in neuroendocrine tumours.
- Fibrosis. (???)
Trivia
VHL gene is found on chromosome 3.[8]
See also
References
- ↑ URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
- ↑ Charlesworth, M.; Verbeke, CS.; Falk, GA.; Walsh, M.; Smith, AM.; Morris-Stiff, G. (Feb 2012). "Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature.". J Gastrointest Surg. doi:10.1007/s11605-012-1847-0. PMID 22370733.
- ↑ 3.0 3.1 Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 440. ISBN 978-0443069826.
- ↑ Harris AL (2000). "von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy". Oncologist 5 Suppl 1: 32–6. PMID 10804089. http://theoncologist.alphamedpress.org/cgi/content-nw/full/5/suppl_1/32/T1.
- ↑ Chew, EY. (2005). "Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.". Trans Am Ophthalmol Soc 103: 495-511. PMC 1447586. PMID 17057815. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447586/.
- ↑ Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
- ↑ Musso, C.; Paraf, F.; Petit, B.; Archambeaud-Mouveroux, F.; Valleix, D.; Labrousse, F. (Mar 2000). "[Pancreatic neuroendocrine tumors and von Hippel-Lindau disease].". Ann Pathol 20 (2): 130-3. PMID 10740008.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608537