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

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.

SUBMITTER: Kortum KM

PROVIDER: S-EPMC4314325 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

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

Kortüm Klaus M KM Langer Christian C Monge Jorge J Bruins Laura L Egan Jan B JB Zhu Yuan X YX Shi Chang Xin CX Jedlowski Patrick P Schmidt Jessica J Ojha Juhi J Bullinger Lars L Liebisch Peter P Kull Miriam M Champion Mia D MD Van Wier Scott S Ahmann Gregory G Rasche Leo L Knop Stefan S Fonseca Rafael R Einsele Hermann H Stewart A Keith AK Braggio Esteban E

British journal of haematology 20141010 4

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 wor ...[more]

PMID: 25302557

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Impact of acquired del(17p) in multiple myeloma.

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