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

被引：43

作者：

Kortuem, Klaus M. ^{[1
]}

Langer, Christian ^{[2
]}

Monge, Jorge ^{[1
]}

Bruins, Laura ^{[1
]}

Egan, Jan B. ^{[3
]}

Zhu, Yuan X. ^{[1
]}

Shi, Chang Xin ^{[1
]}

Jedlowski, Patrick ^{[1
]}

Schmidt, Jessica ^{[1
]}

Ojha, Juhi ^{[1
]}

Bullinger, Lars ^{[2
]}

Liebisch, Peter ^{[2
]}

Kull, Miriam ^{[2
]}

Champion, Mia D. ^{[1
,5
]}

Van Wier, Scott ^{[1
]}

Ahmann, Gregory ^{[1
]}

Rasche, Leo ^{[4
]}

Knop, Stefan ^{[4
]}

Fonseca, Rafael ^{[1
]}

Einsele, Hermann ^{[4
]}

Stewart, A. Keith ^{[1
]}

Braggio, Esteban ^{[1
]}

机构：

[1] Mayo Clin, Div Hematol Oncol, Scottsdale, AZ USA

[2] Univ Hosp Ulm, Dept Internal Med 3, Ulm, Germany

[3] Mayo Clin, Ctr Comprehens Canc, Scottsdale, AZ USA

[4] Univ Hosp Wurzburg, Dept Internal Med 2, Wurzburg, Germany

[5] Mayo Clin, Dept Biomed Stat & Informat, Scottsdale, AZ USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2015年 / 168卷 / 04期

关键词：

myeloma; cancer genetics; DNA mutation; DRUG resistance; genetic analysis; HETEROGENEITY; TP53;

D O I：

10.1111/bjh.13171

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：507 / 510

页数：4

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