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Kortüm, K. Martin

https://orcid.org/0000-0002-7011-0286

A5065834452 | I25974101

Mayo Clinic

University of Würzburg

Citations 24

Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes

Blood | July 25, 2016 | Volume: 128 | Issue: 9 | Pages: 1226-1233

10.1182/blood-2016-02-698092 | PMID 27458004

Key Points The incidence of mutations within the MAPK pathway, the CRBN pathway, and TP53 is significantly increased in drug-refractory MM. Mutations in CRBN might contribute to IMiD resistance in drug-refractory MM.
Bioinformatics Strategies for Identifying Regions of Epigenetic Deregulation Associated with Aberrant Transcript Splicing and RNA-editing

Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms | February 2, 2015 | Volume: No volume available | Issue: No issue available | Pages: 163-170

10.5220/0005248001630170

Identification of recurrent truncated DDX3X mutations in chronic lymphocytic leukaemia

British Journal of Haematology | November 10, 2014 | Volume: 169 | Issue: 3 | Pages: 445-448

10.1111/bjh.13211 | PMID 25382417

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

British Journal of Haematology | October 10, 2014 | Volume: 168 | Issue: 4 | Pages: 507-510

10.1111/bjh.13171 | PMID 25302557

SummaryWe 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.