| Title |
Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms A Report of the Association for Molecular Pathology
|
|---|---|
| Published in |
The Journal of Molecular Diagnostics, August 2018
|
| DOI | 10.1016/j.jmoldx.2018.07.002 |
| Pubmed ID | |
| Authors |
Rebecca F. McClure, Mark D. Ewalt, Jennifer Crow, Robyn L. Temple-Smolkin, Mrudula Pullambhatla, Rachel Sargent, Annette S. Kim |
| Abstract |
To address the clinical relevance of small DNA variants in chronic myeloid neoplasms (CMNs), an Association for Molecular Pathology (AMP) Working Group comprehensively reviewed published literature, summarized key findings that support clinical utility, and defined critical gene inclusions for high-throughput sequencing testing panels. This review highlights the biological complexity of CMNs (including myelodysplastic syndromes, myeloproliferative neoplasms, entities with overlapping features (myelodysplastic syndromes/myeloproliferative neoplasms), and systemic mastocytosis), the genetic heterogeneity within diagnostic categories, and similarities between apparently disparate diagnostic entities. The founding variant's hematopoietic differentiation compartment, specific genes and variants present, order of variant appearance, individual subclone dynamics, and therapeutic intervention all contribute to the clinicopathologic features of CMNs. Selection and efficacy of targeted therapies are increasingly based on DNA variant profiles present at various time points; therefore, high-throughput sequencing remains critical for patient management. The following genes are a minimum recommended list to provide relevant clinical information for the management of most CMNs: ASXL1, BCOR, BCORL1, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, and ZRSR2. This list is not comprehensive for all myeloid neoplasms and will evolve as insights into effects of combinations of relevant biomarkers on specific clinicopathologic characteristics of CMNs accumulate. |
X Demographics
The data shown below were collected from the profiles of 43 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 | 19 | 44% |
| India | 3 | 7% |
| Mexico | 2 | 5% |
| Saudi Arabia | 1 | 2% |
| France | 1 | 2% |
| Unknown | 17 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 27 | 63% |
| Practitioners (doctors, other healthcare professionals) | 10 | 23% |
| Scientists | 4 | 9% |
| Science communicators (journalists, bloggers, editors) | 2 | 5% |
Mendeley readers
The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 72 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 17 | 24% |
| Professor > Associate Professor | 8 | 11% |
| Researcher | 8 | 11% |
| Student > Ph. D. Student | 5 | 7% |
| Student > Master | 4 | 6% |
| Other | 10 | 14% |
| Unknown | 20 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 19 | 26% |
| Biochemistry, Genetics and Molecular Biology | 15 | 21% |
| Agricultural and Biological Sciences | 6 | 8% |
| Nursing and Health Professions | 3 | 4% |
| Social Sciences | 2 | 3% |
| Other | 5 | 7% |
| Unknown | 22 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 70. 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 28 February 2021.
All research outputs
#626,429
of 25,827,956 outputs
Outputs from The Journal of Molecular Diagnostics
#73
of 1,316 outputs
Outputs of similar age
#13,196
of 343,155 outputs
Outputs of similar age from The Journal of Molecular Diagnostics
#2
of 19 outputs
Altmetric has tracked 25,827,956 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,316 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.7. This one has done particularly well, scoring higher than 94% of its peers.
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We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.