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Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma

Overview of attention for article published in Acta Neuropathologica Communications, April 2017
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  • Good Attention Score compared to outputs of the same age (66th percentile)

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3 tweeters
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1 patent

Citations

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109 Mendeley
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Title
Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma
Published in
Acta Neuropathologica Communications, April 2017
DOI 10.1186/s40478-017-0436-6
Pubmed ID
Authors

Tina Y. Huang, Andrea Piunti, Rishi R. Lulla, Jin Qi, Craig M. Horbinski, Tadanori Tomita, C. David James, Ali Shilatifard, Amanda M. Saratsis

Abstract

Diffuse midline gliomas (including diffuse intrinsic pontine glioma, DIPG) are highly morbid glial neoplasms of the thalamus or brainstem that typically arise in young children and are not surgically resectable. These tumors are characterized by a high rate of histone H3 mutation, resulting in replacement of lysine 27 with methionine (K27M) in genes encoding H3 variants H3.3 (H3F3A) and H3.1 (HIST1H3B). Detection of these gain-of-function mutations has clinical utility, as they are associated with distinct tumor biology and clinical outcomes. Given the paucity of tumor tissue available for molecular analysis and relative morbidity of midline tumor biopsy, CSF-derived tumor DNA from patients with diffuse midline glioma may serve as a viable alternative for clinical detection of histone H3 mutation. We demonstrate the feasibility of two strategies to detect H3 mutations in CSF-derived tumor DNA from children with brain tumors (n = 11) via either targeted Sanger sequencing of H3F3A and HIST1H3B, or H3F3A c.83 A > T detection via nested PCR with mutation-specific primers. Of the six CSF specimens from children with diffuse midline glioma in our cohort, tumor DNA sufficient in quantity and quality for analysis was isolated from five (83%), with H3.3K27M detected in four (66.7%). In addition, H3.3G34V was identified in tumor DNA from a patient with supratentorial glioblastoma. Test sensitivity (87.5%) and specificity (100%) was validated via immunohistochemical staining and Sanger sequencing in available matched tumor tissue specimens (n = 8). Our results indicate that histone H3 gene mutation is detectable in CSF-derived tumor DNA from children with brain tumors, including diffuse midline glioma, and suggest the feasibility of "liquid biopsy" in lieu of, or to complement, tissue diagnosis, which may prove valuable for stratification to targeted therapies and monitoring treatment response.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters 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 109 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 109 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 18 17%
Researcher 17 16%
Other 12 11%
Student > Doctoral Student 12 11%
Student > Postgraduate 10 9%
Other 24 22%
Unknown 16 15%
Readers by discipline Count As %
Medicine and Dentistry 40 37%
Biochemistry, Genetics and Molecular Biology 14 13%
Neuroscience 13 12%
Agricultural and Biological Sciences 11 10%
Engineering 5 5%
Other 5 5%
Unknown 21 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 21 March 2019.
All research outputs
#4,198,553
of 14,860,150 outputs
Outputs from Acta Neuropathologica Communications
#488
of 837 outputs
Outputs of similar age
#88,064
of 266,938 outputs
Outputs of similar age from Acta Neuropathologica Communications
#1
of 1 outputs
Altmetric has tracked 14,860,150 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 837 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one is in the 41st percentile – i.e., 41% 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 266,938 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them