Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3P) in -17p high risk disease

Klaus M. Kortüm, Christian Langer, Jorge Monge, Laura Bruins, Jan B. Egan, Yuan X. Zhu, Chang Xin Shi, Patrick Jedlowski, Jessica Schmidt, Juhi Ojha, Lars Bullinger, Peter Liebisch, Miriam Kull, Mia D. Champion, Scott Van Wier, Gregory Ahmann, Leo Rasche, Stefan Knop, Rafael Fonseca, Hermann EinseleA. Keith Stewart, Esteban Braggio

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


Summary: We constructed a multiple myeloma (MM)-specific gene panel for targeted sequencing and investigated 72 untreated high-risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high-risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.

Original languageEnglish (US)
Pages (from-to)507-510
Number of pages4
JournalBritish journal of haematology
Issue number4
StatePublished - Feb 1 2015


  • Cancer genetics
  • DNA mutation
  • DRUG resistance
  • Genetic analysis
  • Myeloma

ASJC Scopus subject areas

  • Hematology


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