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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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  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

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1 peer review site

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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.

X Demographics

X Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 56 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 53 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 20%
Student > Ph. D. Student 8 14%
Other 7 13%
Student > Bachelor 5 9%
Student > Postgraduate 3 5%
Other 10 18%
Unknown 12 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 29%
Agricultural and Biological Sciences 12 21%
Medicine and Dentistry 10 18%
Computer Science 1 2%
Arts and Humanities 1 2%
Other 2 4%
Unknown 14 25%
Attention Score in Context

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
#14,794,387
of 22,778,347 outputs
Outputs from Acta Neuropathologica Communications
#1,107
of 1,372 outputs
Outputs of similar age
#197,777
of 353,027 outputs
Outputs of similar age from Acta Neuropathologica Communications
#9
of 21 outputs
Altmetric has tracked 22,778,347 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,372 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.8. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 353,027 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.