| Title |
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient
|
|---|---|
| Published in |
Familial Cancer, December 2009
|
| DOI | 10.1007/s10689-009-9306-0 |
| Pubmed ID | |
| Authors |
Ismail Alrashdi, Samantha Levine, Joan Paterson, Rohit Saxena, Soonie R. Patel, Sarita Depani, Darren R. Hargrave, Kathy Pritchard-Jones, Shirley V. Hodgson |
| Abstract |
Hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and renal cancer. Previous reports have stressed the aggressiveness of the renal tumours, often with early metastasis, despite small primary tumour size. Almost all the previously reported patients were adults, and different studies showed variability in penetrance for the renal tumours. We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother. This report serves to emphasize the need to improve guidelines for screening of at risk individuals, including the necessity for predictive genetic testing and early institution of tumour surveillance in childhood. |
Mendeley readers
The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Czechia | 1 | 3% |
| Unknown | 38 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 21% |
| Student > Postgraduate | 7 | 18% |
| Researcher | 4 | 10% |
| Professor | 2 | 5% |
| Student > Doctoral Student | 2 | 5% |
| Other | 10 | 26% |
| Unknown | 6 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 51% |
| Biochemistry, Genetics and Molecular Biology | 3 | 8% |
| Unspecified | 2 | 5% |
| Agricultural and Biological Sciences | 2 | 5% |
| Psychology | 2 | 5% |
| Other | 3 | 8% |
| Unknown | 7 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 11. 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 02 May 2014.
All research outputs
#2,968,386
of 22,986,950 outputs
Outputs from Familial Cancer
#33
of 567 outputs
Outputs of similar age
#15,358
of 166,040 outputs
Outputs of similar age from Familial Cancer
#1
of 6 outputs
Altmetric has tracked 22,986,950 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 567 research outputs from this source. They receive a mean Attention Score of 4.2. This one has done particularly well, scoring higher than 93% of its peers.
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 166,040 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 90% of its contemporaries.
We're also able to compare this research output to 6 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