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Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations

Overview of attention for article published in European Journal of Human Genetics, December 2017
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Title
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations
Published in
European Journal of Human Genetics, December 2017
DOI 10.1038/s41431-017-0048-4
Pubmed ID
Authors

Julia Taeubner, Triantafyllia Brozou, Nan Qin, Jasmin Bartl, Sebastian Ginzel, Joerg Schaper, Joerg Felsberg, Simone Fulda, Christian Vokuhl, Arndt Borkhardt, Michaela Kuhlen

Abstract

The sonic hedgehog (SHH) signaling pathway has been shown to play important roles in embryogenesis, cell proliferation as well as in cell differentiation. It is aberrantly activated in various common cancers in adults, but also in pediatric neoplasms, such as rhabdomyosarcoma (RMS) and atypical teratoid/rhabdoid tumors (AT/RTs). Dysregulation and germline mutation in PATCHED1 (PTCH1), a receptor for SHH, is responsible for the Gorlin Syndrome, a familial cancer predisposing syndrome including RMS. Here, we report a newborn diagnosed with congenital embryonal RMS. Whole-exome sequencing (WES) identified the presence of two heterozygous germline mutations in two target genes of the SHH signaling pathway. The PTCH1 mutation p.(Gly38Glu) is inherited from the mother, whereas the PTCH2 p.(His622Tyr) mutation is transmitted from the father. Quantitative RT-PCR expression analysis of GLI and SMO, key players of the SHH pathway, showed significantly increase in the tumor tissue of the patient and also enrichment in the germline sample in comparison to the parents indicating activation of the SHH pathway in the patient. These findings demonstrate that SHH pathway activity seems to play a role in eRMS as evidenced by high expression levels of GLI1 RNA transcripts. We speculate that PTCH2 modulates tumorigenesis linked to the PTCH1 mutation and is likely associated with the congenital onset of the RMS observed in our patient.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 31%
Student > Ph. D. Student 3 19%
Student > Doctoral Student 2 13%
Student > Master 1 6%
Researcher 1 6%
Other 1 6%
Unknown 3 19%
Readers by discipline Count As %
Medicine and Dentistry 6 38%
Biochemistry, Genetics and Molecular Biology 4 25%
Computer Science 1 6%
Agricultural and Biological Sciences 1 6%
Neuroscience 1 6%
Other 0 0%
Unknown 3 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 15 December 2017.
All research outputs
#9,462,102
of 12,346,729 outputs
Outputs from European Journal of Human Genetics
#1,982
of 2,344 outputs
Outputs of similar age
#227,993
of 349,213 outputs
Outputs of similar age from European Journal of Human Genetics
#37
of 45 outputs
Altmetric has tracked 12,346,729 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,344 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 13th percentile – i.e., 13% 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 349,213 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 45 others from the same source and published within six weeks on either side of this one. This one is in the 15th percentile – i.e., 15% of its contemporaries scored the same or lower than it.