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


Authors: Chmielecki, J.; Peifer, M.; Viale, A.; Hutchinson, K.; Giltnane, J.; Socci, N. D.; Hollis, C. J.; Dean, R. S.; Yenamandra, A.; Jagasia, M.; Kim, A. S.; Davé, U. P.; Thomas, R. K.; Pao, W.
Article Title: Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm
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. © 2011 Wiley Periodicals, Inc.
Keywords: adult; gene sequence; human cell; cancer recurrence; case report; imatinib; disease association; genetic association; protein tyrosine kinase; t cell lymphoma; hematologic malignancy; myeloproliferative neoplasm; platelet derived growth factor b; eosinophilia; t lymphoblastic lymphoma
Journal Title: Genes Chromosomes and Cancer
Volume: 51
Issue: 1
ISSN: 1045-2257
Publisher: Wiley Periodicals, Inc  
Date Published: 2012-01-01
Start Page: 54
End Page: 65
Language: English
DOI: 10.1002/gcc.20930
PROVIDER: scopus
PUBMED: 21938754
DOI/URL:
Notes: --- - "Export Date: 9 December 2011" - "CODEN: GCCAE" - "Source: Scopus"
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  1. Agnes Viale
    245 Viale