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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(s) -
Chmielecki Juliann,
Peifer Martin,
Viale Agnes,
Hutchinson Katherine,
Giltnane Jennifer,
Socci Nicholas D.,
Hollis Clayton J.,
Dean Rebecca S.,
Yenamandra Ashwini,
Jagasia Madan,
Kim Annette S.,
Davé Utpal P.,
Thomas Roman K.,
Pao William
Publication year - 2012
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20930
Subject(s) - pdgfrb , myeloproliferative neoplasm , fusion gene , tyrosine kinase , protein kinase domain , cancer research , anaplastic lymphoma kinase , myeloproliferative disorders , fusion protein , imatinib , neoplasm , imatinib mesylate , biology , medicine , gene , pathology , genetics , immunology , myelofibrosis , bone marrow , signal transduction , myeloid leukemia , mutant , malignant pleural effusion , recombinant dna , lung cancer
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.