Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.

Chmielecki J, Peifer M, Viale A, Hutchinson K, Giltnane J, Socci ND, Hollis CJ, Dean RS, Yenamandra A, Jagasia M, Kim AS, Davé UP, Thomas RK, Pao W
Genes Chromosomes Cancer. 2012 51 (1): 54-65

PMID: 21938754 · DOI:10.1002/gcc.20930

Gene fusions involving the catalytic domain of tyrosine kinases (TKs) are found in a variety of hematological and solid tumor malignancies. Clinically, TK fusions have emerged as prime targets for therapy with small molecule kinase inhibitors. Unfortunately, identification of TK fusions has been hampered by experimental limitations. Here, we developed version 2.0 of a genomically based systematic kinase fusion screen and used it to detect a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia. These data validate the ability of this targeted capture-sequencing approach to detect TK fusion events in small amounts of DNA extracted directly from patient samples.

Copyright © 2011 Wiley Periodicals, Inc.

MeSH Terms (21)

Adult Algorithms Amino Acid Sequence Base Sequence Cell Line, Tumor Computational Biology Cytoskeletal Proteins Gene Order HEK293 Cells Humans K562 Cells Karyotyping Male Molecular Sequence Data Myeloproliferative Disorders Oncogene Proteins, Fusion Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Protein-Tyrosine Kinases Sequence Alignment Sequence Analysis, DNA Translocation, Genetic

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