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

K. M. Kortuem, Esteban D Braggio, L. Bruins, S. Barrio, C. S. Shi, Y. X. Zhu, R. Tibes, D. Viswanatha, P. Votruba, G. Ahmann, Rafael Fonseca, P. Jedlowski, I. Schlam, Shaji K Kumar, Peter Leif Bergsagel, Alexander Keith Stewart

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M3P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M3Pv2.0 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.

Original languageEnglish (US)
Article numbere397
JournalBlood Cancer Journal
Volume6
Issue number2
DOIs
StatePublished - 2016

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ASJC Scopus subject areas

  • Hematology
  • Oncology

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