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Targeted sequencing using a 47 gene multiple myeloma mutation panel (M 3 P) in ‐17p high risk disease
Author(s) -
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
Publication year - 2015
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.13171
Subject(s) - multiple myeloma , medicine , mutation , gene , dna sequencing , oncology , disease , genetics , biology
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 .