Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients

نویسندگان

  • K M Kortuem
  • E Braggio
  • L Bruins
  • S Barrio
  • C S Shi
  • Y X Zhu
  • R Tibes
  • D Viswanatha
  • P Votruba
  • G Ahmann
  • R Fonseca
  • P Jedlowski
  • I Schlam
  • S Kumar
  • P L Bergsagel
  • A K Stewart
چکیده

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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عنوان ژورنال:

دوره 6  شماره 

صفحات  -

تاریخ انتشار 2016