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. 2015 Feb;168(4):507-10.
doi: 10.1111/bjh.13171. Epub 2014 Oct 10.

Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease

Klaus M Kortüm  1 , 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 Einsele, A Keith Stewart, Esteban Braggio
Affiliations

Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease

Klaus M Kortüm et al. Br J Haematol. 2015 Feb.

Abstract

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.

Keywords: DNA mutation; DRUG resistance; cancer genetics; genetic analysis; myeloma.

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Conflict of interest statement

Disclosure of conflicts of interest

KMK, CL, EB, JM, LBr, JBE, PL, YXZ, CXS, PJ, JS, JO, LBu, MK, MDC, SVW, GA, LR, SK, HE, AKS and EB have nothing to disclose.

Figures

Fig 1
Fig 1
Mutation prevalence in untreated patients with newly diagnosed and untreated del17p multiple myeloma and fluorescence in situ hybridization (FISH) results. All patients had a confirmed del 17p. Grey shading indicates lack of FISH data; black and striped shading indicates, multiple mutations in the same gene and timepoint. No mutation above the chosen threshold was found in CRBN, CUL4A/B, DDB1, EGR1, FAM46C, IRF4, MECOM, NR3C1, PSMB5, PSMG2, PTPRD, RASA2, TIAM1, XBP1 or ZFHX3.
See this image and copyright information in PMC

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