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A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma

Overview of attention for article published in The Journal of Molecular Diagnostics, November 2016
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Title
A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma
Published in
The Journal of Molecular Diagnostics, November 2016
DOI 10.1016/j.jmoldx.2016.08.004
Pubmed ID
Authors

Cristina Jiménez, María Jara-Acevedo, Luis A. Corchete, David Castillo, Gonzalo R. Ordóñez, María E. Sarasquete, Noemí Puig, Joaquín Martínez-López, María I. Prieto-Conde, María García-Álvarez, María C. Chillón, Ana Balanzategui, Miguel Alcoceba, Albert Oriol, Laura Rosiñol, Luis Palomera, Ana I. Teruel, Juan J. Lahuerta, Joan Bladé, María V. Mateos, Alberto Orfão, Jesús F. San Miguel, Marcos González, Norma C. Gutiérrez, Ramón García-Sanz

Abstract

Identification and characterization of genetic alterations are essential for diagnosis of multiple myeloma and may guide therapeutic decisions. Currently, genomic analysis of myeloma to cover the diverse range of alterations with prognostic impact requires fluorescence in situ hybridization (FISH), single nucleotide polymorphism arrays, and sequencing techniques, which are costly and labor intensive and require large numbers of plasma cells. To overcome these limitations, we designed a targeted-capture next-generation sequencing approach for one-step identification of IGH translocations, V(D)J clonal rearrangements, the IgH isotype, and somatic mutations to rapidly identify risk groups and specific targetable molecular lesions. Forty-eight newly diagnosed myeloma patients were tested with the panel, which included IGH and six genes that are recurrently mutated in myeloma: NRAS, KRAS, HRAS, TP53, MYC, and BRAF. We identified 14 of 17 IGH translocations previously detected by FISH and three confirmed translocations not detected by FISH, with the additional advantage of breakpoint identification, which can be used as a target for evaluating minimal residual disease. IgH subclass and V(D)J rearrangements were identified in 77% and 65% of patients, respectively. Mutation analysis revealed the presence of missense protein-coding alterations in at least one of the evaluating genes in 16 of 48 patients (33%). This method may represent a time- and cost-effective diagnostic method for the molecular characterization of multiple myeloma.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 93 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 2%
Unknown 91 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 17%
Student > Doctoral Student 11 12%
Student > Ph. D. Student 9 10%
Student > Master 9 10%
Other 8 9%
Other 22 24%
Unknown 18 19%
Readers by discipline Count As %
Medicine and Dentistry 32 34%
Biochemistry, Genetics and Molecular Biology 20 22%
Agricultural and Biological Sciences 9 10%
Business, Management and Accounting 2 2%
Chemistry 2 2%
Other 7 8%
Unknown 21 23%
Attention Score in Context

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 21 November 2016.
All research outputs
#20,653,708
of 25,371,288 outputs
Outputs from The Journal of Molecular Diagnostics
#1,138
of 1,306 outputs
Outputs of similar age
#240,507
of 311,937 outputs
Outputs of similar age from The Journal of Molecular Diagnostics
#22
of 25 outputs
Altmetric has tracked 25,371,288 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.
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