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 Einsele; A. Keith Stewart; Esteban Braggio

doi:10.1111/bjh.13171

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 journal › Article › peer-review

36 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	507-510
Number of pages	4
Journal	British journal of haematology
Volume	168
Issue number	4
DOIs	https://doi.org/10.1111/bjh.13171
State	Published - Feb 1 2015

Keywords

Cancer genetics
DNA mutation
DRUG resistance
Genetic analysis
Myeloma

ASJC Scopus subject areas

Hematology

Access to Document

10.1111/bjh.13171

Cite this

Kortüm, K. M., Langer, C., Monge, J., Bruins, L., Egan, J. B., Zhu, Y. X., Shi, C. X., Jedlowski, P., Schmidt, J., Ojha, J., Bullinger, L., Liebisch, P., Kull, M., Champion, M. D., Van Wier, S., Ahmann, G., Rasche, L., Knop, S., Fonseca, R., ... Braggio, E. (2015). Targeted sequencing using a 47 gene multiple myeloma mutation panel (M³P) in -17p high risk disease. British journal of haematology, 168(4), 507-510. https://doi.org/10.1111/bjh.13171

Kortüm, KM, Langer, C, Monge, J, Bruins, L, Egan, JB, Zhu, YX, Shi, CX, Jedlowski, P, Schmidt, J, Ojha, J, Bullinger, L, Liebisch, P, Kull, M, Champion, MD, Van Wier, S, Ahmann, G, Rasche, L, Knop, S, Fonseca, R, Einsele, H, Stewart, AK & Braggio, E 2015, 'Targeted sequencing using a 47 gene multiple myeloma mutation panel (M³P) in -17p high risk disease', British journal of haematology, vol. 168, no. 4, pp. 507-510. https://doi.org/10.1111/bjh.13171

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

abstract = "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.",

keywords = "Cancer genetics, DNA mutation, DRUG resistance, Genetic analysis, Myeloma",

author = "Kort{\"u}m, {Klaus M.} and Christian Langer and Jorge Monge and Laura Bruins and Egan, {Jan B.} and Zhu, {Yuan X.} and Shi, {Chang Xin} and Patrick Jedlowski and Jessica Schmidt and Juhi Ojha and Lars Bullinger and Peter Liebisch and Miriam Kull and Champion, {Mia D.} and {Van Wier}, Scott and Gregory Ahmann and Leo Rasche and Stefan Knop and Rafael Fonseca and Hermann Einsele and Stewart, {A. Keith} and Esteban Braggio",

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doi = "10.1111/bjh.13171",

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AU - Kortüm, Klaus M.

AU - Langer, Christian

AU - Monge, Jorge

AU - Bruins, Laura

AU - Egan, Jan B.

AU - Zhu, Yuan X.

AU - Shi, Chang Xin

AU - Jedlowski, Patrick

AU - Schmidt, Jessica

AU - Ojha, Juhi

AU - Bullinger, Lars

AU - Liebisch, Peter

AU - Kull, Miriam

AU - Champion, Mia D.

AU - Van Wier, Scott

AU - Ahmann, Gregory

AU - Rasche, Leo

AU - Knop, Stefan

AU - Fonseca, Rafael

AU - Einsele, Hermann

AU - Stewart, A. Keith

AU - Braggio, Esteban

PY - 2015/2/1

Y1 - 2015/2/1

N2 - 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.

AB - 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.

KW - Cancer genetics

KW - DNA mutation

KW - DRUG resistance

KW - Genetic analysis

KW - Myeloma

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