Journal
ANNALS OF HEMATOLOGY
Volume 94, Issue 7, Pages 1205-1211Publisher
SPRINGER
DOI: 10.1007/s00277-015-2344-9
Keywords
Multiple myeloma; Targeted sequencing
Categories
Funding
- ECOG CA [21115 T]
- Predolin Foundation
- Mayo Clinic Cancer Center
- Mayo Foundation
- DFG [Ko 4604/1-1, BU 1339/7-2, BU 1339/3-1, LA 2414/2-1]
- Henry Predolin Foundation
- Marriott Specialized Workforce Development Awards in Individualized Medicine
- Fraternal Order of Eagles
- [R01 CA83724]
- [CA167511]
- [CA183968]
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Recent advances in genomic sequencing technologies now allow results from deep next-generation sequencing to be obtained within clinically meaningful timeframes, making this an attractive approach to better guide personalized treatment strategies. No multiple myeloma-specific gene panel has been established so far; we therefore designed a 47-gene-targeting gene panel, containing 39 genes known to be mutated in a parts per thousand yen3 % of multiple myeloma cases and eight genes in pathways therapeutically targeted in multiple myeloma (MM). We performed targeted sequencing on tumor/germline DNA of 25 MM patients in which we also had a sequential sample post treatment. Mutation analysis revealed KRAS as the most commonly mutated gene (36 % in each time point), followed by NRAS (20 and 16 %), TP53 (16 and 16 %), DIS3 (16 and 16 %), FAM46C (12 and 16 %), and SP140 (12 and 12 %). We successfully tracked clonal evolution and identified mutation acquisition and/or loss in FAM46C, FAT1, KRAS, NRAS, SPEN, PRDM1, NEB, and TP53 as well as two mutations in XBP1, a gene associated with bortezomib resistance. Thus, we present the first longitudinal analysis of a MM-specific targeted sequencing gene panel that can be used for individual tumor characterization and for tracking clonal evolution over time.
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