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

Media type: E-Article
Title: Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3P) in ‐17p high risk disease
Contributor: 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
imprint: Wiley, 2015
Published in: British Journal of Haematology
Language: English
DOI: 10.1111/bjh.13171
ISSN: 0007-1048; 1365-2141
Keywords: Hematology
Origination:
Footnote:
Description: <jats:title>Summary</jats:title><jats:p>We constructed a multiple myeloma (<jats:styled-content style="fixed-case">MM</jats:styled-content>)‐specific gene panel for targeted sequencing and investigated 72 untreated high‐risk (del17p) <jats:styled-content style="fixed-case">MM</jats:styled-content> 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 <jats:italic>TP53</jats:italic> mutation was increased (28%) and no mutations were found in <jats:italic>FAM46C</jats:italic>. This study provides a comprehensive insight into the mutational landscape of del17p high‐risk <jats:styled-content style="fixed-case">MM</jats:styled-content>. 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 <jats:styled-content style="fixed-case">MM</jats:styled-content>.</jats:p>

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