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

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, th...

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Veröffentlicht in:British journal of haematology 2015-02, Vol.168 (4), p.507-510
Hauptverfasser: Kortüm, Klaus M., Langer, Christian, Monge, Jorge, Bruins, Laura, Egan, Jan B., Zhu, Yuan X., Shi, Chang Xin, Jedlowski, Patrick, Schmidt, Jessica, Ojha, Juhi, Bullinger, Lars, Liebisch, Peter, Kull, Miriam, Champion, Mia D., Van Wier, Scott, Ahmann, Gregory, Rasche, Leo, Knop, Stefan, Fonseca, Rafael, Einsele, Hermann, Stewart, A Keith, Braggio, Esteban
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Sprache:eng
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Zusammenfassung: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.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.13171