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

25 Citations (Scopus)

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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Multiple Myeloma
Mutation
Genes
Costs and Cost Analysis
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Hematology
  • Oncology

Cite this

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients. / Kortuem, K. M.; Braggio, Esteban D; Bruins, L.; Barrio, S.; Shi, C. S.; Zhu, Y. X.; Tibes, R.; Viswanatha, D.; Votruba, P.; Ahmann, G.; Fonseca, Rafael; Jedlowski, P.; Schlam, I.; Kumar, Shaji K; Bergsagel, Peter Leif; Stewart, Alexander Keith.

In: Blood Cancer Journal, Vol. 6, No. 2, e397, 2016.

Research output: Contribution to journalArticle

Kortuem, K. M. ; Braggio, Esteban D ; Bruins, L. ; Barrio, S. ; Shi, C. S. ; Zhu, Y. X. ; Tibes, R. ; Viswanatha, D. ; Votruba, P. ; Ahmann, G. ; Fonseca, Rafael ; Jedlowski, P. ; Schlam, I. ; Kumar, Shaji K ; Bergsagel, Peter Leif ; Stewart, Alexander Keith. / Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients. In: Blood Cancer Journal. 2016 ; Vol. 6, No. 2.
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AU - Shi, C. S.

AU - Zhu, Y. X.

AU - Tibes, R.

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AU - Fonseca, Rafael

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AU - Stewart, Alexander Keith

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