| Title |
Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
|
|---|---|
| Published in |
Virchows Archiv, April 2015
|
| DOI | 10.1007/s00428-015-1765-0 |
| Pubmed ID | |
| Authors |
Sarah J. Aitken, Nadège Presneau, Sangeetha Kalimuthu, Palma Dileo, Fitim Berisha, Roberto Tirabosco, M. Fernanda Amary, Adrienne M. Flanagan |
| Abstract |
Desmoid-type fibromatoses are locally aggressive and frequently recurrent tumours, and an accurate diagnosis is essential for patient management. The majority of sporadic lesions harbour beta-catenin (CTNNB1) mutations. We used next-generation sequencing to detect CTNNB1 mutations and to compare the sensitivity and specificity of next-generation sequencing with currently employed mutation detection techniques: mutation-specific restriction enzyme digestion and polymerase chain reaction amplification. DNA was extracted from formalin-fixed paraffin-embedded needle biopsy or resection tissue sections from 144 patients with sporadic desmoid-type fibromatoses, four patients with syndrome-related desmoid-type fibromatoses and 11 morphological mimics. Two primer pairs were designed for CTNNB1 mutation hotspots. Using ≥10 ng of DNA, libraries were generated by Fluidigm and sequenced on the Ion Torrent Personal Genome Machine. Next-generation sequencing had a sensitivity of 92.36 % (133/144, 95 % CIs: 86.74 to 96.12 %) and a specificity of 100 % for the detection of CTNNB1 mutations in desmoid-type fibromatoses-like spindle cell lesions. All mutations detected by mutation-specific restriction enzyme digestion were identified by next-generation sequencing. Next-generation sequencing identified additional mutations in 11 tumours that were not detected by mutation-specific restriction enzyme digestion, two of which have not been previously described. Next-generation sequencing is highly sensitive for the detection of CTNNB1 mutations. This multiplex assay has the advantage of detecting additional mutations compared to those detected by mutation-specific restriction enzyme digestion (sensitivity 82.41 %). The technology requires minimal DNA and is time- and cost-efficient. |
X Demographics
The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 20% |
| United States | 1 | 20% |
| Unknown | 3 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 80% |
| Scientists | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 3% |
| Unknown | 32 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 9 | 27% |
| Researcher | 5 | 15% |
| Student > Doctoral Student | 3 | 9% |
| Professor | 2 | 6% |
| Other | 2 | 6% |
| Other | 3 | 9% |
| Unknown | 9 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 39% |
| Agricultural and Biological Sciences | 4 | 12% |
| Biochemistry, Genetics and Molecular Biology | 3 | 9% |
| Chemical Engineering | 1 | 3% |
| Chemistry | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 11 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 09 April 2015.
All research outputs
#13,025,004
of 23,301,510 outputs
Outputs from Virchows Archiv
#969
of 1,998 outputs
Outputs of similar age
#119,474
of 265,232 outputs
Outputs of similar age from Virchows Archiv
#9
of 33 outputs
Altmetric has tracked 23,301,510 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,998 research outputs from this source. They receive a mean Attention Score of 4.0. This one has gotten more attention than average, scoring higher than 50% of its peers.
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We're also able to compare this research output to 33 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 66% of its contemporaries.