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Today – Von Hippel-Lindau disease Day May 9, 2009

Posted by ramunas in cancer genetics.
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Today is an international Von Hippel Lindau Disease Day. VHL Alliance is the main source of information about this disease and also very active community. Take a look at VHLA Youtube channel.

Von Hippel Lindau is a rare (1:35000) autosomal dominant genetic condition with increased formation of specific vascular tumours (mostly benign) called hemangioblastomas, mostly in eye retina and cerebellum as well as increased risk for renal clear cell carcinomas at young age and sometimes adrenal pheochromocytomas. Multiple pancreatic and renal cysts are common.

vhl_eng(image from a very informative article in Lancet, 2003)

The critical management step is an early recognition of VHL with the help of genetic testing what allows presymptomatic  identification of persons at risk and target them towards specific surveillance and prompt treatment.

Molecular testing is quite easy – VHL gene has only 3 exons which can be easily sequenced for small mutations. But there is a trick: up to 30-40 percent of mutations are large deletions of entire gene or particular exons, therefore other techniques must be used, like MLPA or real-time PCR. Altogether nearly 100% sensitivity can be reached.

Each case of hemangioblastoma, renal clear cell carcinoma (RCC) or pheochromocytoma before the age of 50, bilateral or multifocal involvement should prompt to genetic testing.

There are lot of efforts for developing targeted cure for VHL – anti-VEGF therapy is one experimental choice. Hopefully other strategies (like modulation of HSPC300 gene activity) will bring some hope for a cure.

On monday I’m organising VHL seminar for doctors at our hospital  as well as bringing VHL patients together.

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Comments»

1. FEZTHIA - November 25, 2009

JE VOULAIS SAVOIR PLUS SUR MALADIES CANCER UTERUS POUR FEMMES COMMENT ON PEUT SAVOIR SI ON EST VIERGE
MERCI

2. morello - December 20, 2009

i like your blog, its remaind me when i was a student. PCR, exon, intron, genes..hmm.. really love it 🙂

3. Sharon - January 22, 2010

Hi,

My name is Sharon Ray and I am the assistant editor of Cysticfibrosis.net. I am contacting you today in hopes of developing a relationship with your website; we have seen your site and think your content is great. Cysticfibrosis.net offer a free informational resource to both the general and professional public on this terrible disease.

I hope you show some interest in building relationship, please contact me at sharon.cysticfibrosis.net@gmail.com.

4. ProArticlesDaily - May 12, 2010

Just wanted to say I really love your blog! I’m so happy I found it!

5. drcancer - August 27, 2010

Nice And Use Full Information I Hope U will Give Us This Kinda Info In Futute Cancer

6. drcancer - December 9, 2010

a great blog what i really love this blog Make Us Healthy


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