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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation

Overview of attention for article published in Acta Neuropathologica Communications, December 2014
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1 tweeter
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1 peer review site

Citations

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51 Dimensions

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53 Mendeley
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Title
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation
Published in
Acta Neuropathologica Communications, December 2014
DOI 10.1186/s40478-014-0167-x
Pubmed ID
Authors

Ganesh M Shankar, Amaro Taylor-Weiner, Nina Lelic, Robert T Jones, James C Kim, Joshua M Francis, Malak Abedalthagafi, Lawrence F Borges, Jean-Valery Coumans, William T Curry, Brian V Nahed, John H Shin, Sun Ha Paek, Sung-Hye Park, Chip Stewart, Michael S Lawrence, Kristian Cibulskis, Aaron R Thorner, Paul Van Hummelen, Anat O Stemmer-Rachamimov, Tracy T Batchelor, Scott L Carter, Mai P Hoang, Sandro Santagata, David N Louis, Fred G Barker, Matthew Meyerson, Gad Getz, Priscilla K Brastianos, Daniel P Cahill

Abstract

Hemangioblastomas consist of 10-20% neoplastic "stromal" cells within a vascular tumor cell mass of reactive pericytes, endothelium and lymphocytes. Familial cases of central nervous system hemangioblastoma uniformly result from mutations in the Von Hippel-Lindau (VHL) gene. In contrast, inactivation of VHL has been previously observed in only a minority of sporadic hemangioblastomas, suggesting an alternative genetic etiology. We performed deep-coverage DNA sequencing on 32 sporadic hemangioblastomas (whole exome discovery cohort n = 10, validation n = 22), followed by analysis of clonality, copy number alteration, and somatic mutation. We identified somatic mutation, loss of heterozygosity and/or deletion of VHL in 8 of 10 discovery cohort tumors. VHL inactivating events were ultimately detected in 78% (25/32) of cases. No other gene was significantly mutated. Overall, deep-coverage sequence analysis techniques uncovered VHL alterations within the neoplastic fraction of these tumors at higher frequencies than previously reported. Our findings support the central role of VHL inactivation in the molecular pathogenesis of both familial and sporadic hemangioblastomas.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Canada 1 2%
South Africa 1 2%
Unknown 50 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 21%
Student > Ph. D. Student 8 15%
Other 7 13%
Student > Bachelor 5 9%
Student > Postgraduate 3 6%
Other 10 19%
Unknown 9 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 30%
Agricultural and Biological Sciences 12 23%
Medicine and Dentistry 10 19%
Computer Science 1 2%
Arts and Humanities 1 2%
Other 2 4%
Unknown 11 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 April 2016.
All research outputs
#10,675,983
of 17,131,911 outputs
Outputs from Acta Neuropathologica Communications
#821
of 1,037 outputs
Outputs of similar age
#147,261
of 293,046 outputs
Outputs of similar age from Acta Neuropathologica Communications
#1
of 1 outputs
Altmetric has tracked 17,131,911 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,037 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.4. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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