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Mendeley readers
Attention Score in Context
| Title |
Clonal architecture of CXCR4 WHIM‐like mutations in Waldenström Macroglobulinaemia
|
|---|---|
| Published in |
British Journal of Haematology, December 2015
|
| DOI | 10.1111/bjh.13897 |
| Pubmed ID | |
| Authors |
Lian Xu, Zachary R. Hunter, Nicholas Tsakmaklis, Yang Cao, Guang Yang, Jie Chen, Xia Liu, Sandra Kanan, Jorge J. Castillo, Yu‐Tzu Tai, James L. Zehnder, Jennifer R. Brown, Ruben D. Carrasco, Ranjana Advani, Jean M. Sabile, Kimon Argyropoulos, M. Lia Palomba, Enrica Morra, Alessandra Trojani, Antonino Greco, Alessandra Tedeschi, Marzia Varettoni, Luca Arcaini, Nikhil M. Munshi, Kenneth C. Anderson, Steven P. Treon |
| Abstract |
CXCR4(WHIM) somatic mutations are distinctive to Waldenström Macroglobulinaemia (WM), and impact disease presentation and treatment outcome. The clonal architecture of CXCR4(WHIM) mutations remains to be delineated. We developed highly sensitive allele-specific polymerase chain reaction (AS-PCR) assays for detecting the most common CXCR4(WHIM) mutations (CXCR4(S338X C>A and C>G) ) in WM. The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing. By combined AS-PCR and Sanger sequencing, CXCR4(WHIM) mutations were identified in 44/102 (43%), 21/62 (34%), 2/12 (17%) and 1/20 (5%) untreated WM, previously treated WM, IgM MGUS and marginal zone lymphoma patients, respectively, but no chronic lymphocytic leukaemia, multiple myeloma, non-IgM MGUS patients or healthy donors. Cancer cell fraction analysis in WM and IgM MGUS patients showed CXCR4(S338X) mutations were primarily subclonal, with highly variable clonal distribution (median 35·1%, range 1·2-97·5%). Combined AS-PCR and Sanger sequencing revealed multiple CXCR4(WHIM) mutations in many individual WM patients, including homozygous and compound heterozygous mutations validated by deep RNA sequencing. The findings show that CXCR4(WHIM) mutations are more common in WM than previously revealed, and are primarily subclonal, supporting their acquisition after MYD88(L265P) in WM oncogenesis. The presence of multiple CXCR4(WHIM) mutations within individual WM patients may be indicative of targeted CXCR4 genomic instability. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Unknown | 51 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 19% |
| Student > Ph. D. Student | 8 | 15% |
| Other | 7 | 13% |
| Student > Master | 5 | 10% |
| Student > Postgraduate | 4 | 8% |
| Other | 7 | 13% |
| Unknown | 11 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 22 | 42% |
| Biochemistry, Genetics and Molecular Biology | 9 | 17% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 6% |
| Agricultural and Biological Sciences | 2 | 4% |
| Immunology and Microbiology | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 14 | 27% |
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 08 March 2016.
All research outputs
#19,985,639
of 24,558,777 outputs
Outputs from British Journal of Haematology
#6,780
of 7,910 outputs
Outputs of similar age
#293,138
of 399,935 outputs
Outputs of similar age from British Journal of Haematology
#61
of 83 outputs
Altmetric has tracked 24,558,777 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 7,910 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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