| Title |
Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature
|
|---|---|
| Published in |
Child's Nervous System, August 2018
|
| DOI | 10.1007/s00381-018-3925-4 |
| Pubmed ID | |
| Authors |
R. Borrill, E. Cheesman, S. Stivaros, I. D. Kamaly-Asl, K. Gnanalingham, John-Paul Kilday |
| Abstract |
Craniopharyngiomas are one of the most frequently diagnosed hypothalamo-pituitary tumors in childhood. The adamantinomatous histological subtype accounts for most pediatric cases, while the papillary variant is almost exclusively diagnosed in adults. Here, we report a case of papillary craniopharyngioma in a very young child, confirmed by molecular tissue analysis. A 4-year-old girl was being investigated for symptomatic central hypothyroidism. Brain MR imaging revealed a large solid/cystic suprasellar mass, splaying the optic chiasm and measuring 3 × 1.9 × 2.3 cm. The patient underwent a transsphenoidal near total resection of the lesion, which was encased within a tumor capsule. Post-operatively, the patient developed transient diabetes insipidus but otherwise recovered well. The pathology of the lesion was consistent with a papillary craniopharyngioma with regions of stratified squamous epithelium accompanied by superficial goblet cells and ciliated cells. Subsequent next-generation sequencing analysis of the lesion confirmed the presence of a BRAF V600E mutation (BRAFc.1799T>A p. (Val600Glu). To date, she remains free from progression 1 year following surgery. This is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. The case encourages discussion about the most appropriate adjuvant therapy for tumor progression in such cases, given the risks of radiotherapy to the developing brain and the increasing availability of oral BRAF inhibitor therapy. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 54 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 13 | 24% |
| Student > Bachelor | 9 | 17% |
| Student > Doctoral Student | 4 | 7% |
| Student > Ph. D. Student | 3 | 6% |
| Other | 3 | 6% |
| Other | 9 | 17% |
| Unknown | 13 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 31% |
| Unspecified | 13 | 24% |
| Psychology | 3 | 6% |
| Biochemistry, Genetics and Molecular Biology | 2 | 4% |
| Neuroscience | 2 | 4% |
| Other | 3 | 6% |
| Unknown | 14 | 26% |
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 03 August 2018.
All research outputs
#17,986,372
of 23,098,660 outputs
Outputs from Child's Nervous System
#1,228
of 2,819 outputs
Outputs of similar age
#237,971
of 331,041 outputs
Outputs of similar age from Child's Nervous System
#39
of 106 outputs
Altmetric has tracked 23,098,660 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,819 research outputs from this source. They receive a mean Attention Score of 1.9. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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We're also able to compare this research output to 106 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 53% of its contemporaries.