Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients
2016; Springer Nature; Volume: 6; Issue: 2 Linguagem: Inglês
10.1038/bcj.2016.1
ISSN2044-5385
AutoresK. Martin Kortuem, Esteban Braggio, Laura A. Bruins, Santiago Barrio, Chenlai Shi, Ya-Jie Zhu, Raoul Tibes, David S. Viswanatha, Patrick G. Votruba, Gregory Ahmann, Rafaël Fonseca, Patrick Jedlowski, Ilana Schlam, Shaji Kumar, P. Leif Bergsagel, A. Keith Stewart,
Tópico(s)Monoclonal and Polyclonal Antibodies Research
ResumoAbstract We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M 3 P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M 3 Pv2.0 includes 77 genes selected for being either actionable targets, potentially related to drug–response or part of known key pathways in MM biology. We identified mutations in potentially actionable genes in 49% of patients and provided prognostic evidence of STAT3 mutations. This panel may serve as a practical alternative to more comprehensive sequencing approaches, providing genomic information in a timely and cost-effective manner, thus allowing clinically oriented variant screening in MM.
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