1. Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.
- Author
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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, and Pao W
- Subjects
- 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 complications, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma complications, Sequence Alignment, Sequence Analysis, DNA, Myeloproliferative Disorders genetics, Oncogene Proteins, Fusion genetics, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma genetics, Protein-Tyrosine Kinases genetics, Translocation, Genetic
- Abstract
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.)
- Published
- 2012
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