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

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

Research output: Contribution to journalArticlepeer-review

31 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

ASJC Scopus subject areas

  • Hematology
  • Oncology

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