% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Durham:128679,
      author       = {B. H. Durham and B. Getta and S. Dietrich$^*$ and J. Taylor
                      and H. Won and J. M. Bogenberger and S. Scott and E. Kim and
                      Y. R. Chung and S. S. Chung and J. Hüllein$^*$ and T.
                      Walther$^*$ and L. Wang and S. X. Lu and C. C. Oakes and R.
                      Tibes and T. Haferlach and B. S. Taylor and M. S. Tallman
                      and M. F. Berger and J. H. Park and T. Zenz$^*$ and O.
                      Abdel-Wahab},
      title        = {{G}enomic analysis of hairy cell leukemia identifies novel
                      recurrent genetic alterations.},
      journal      = {Blood},
      volume       = {130},
      number       = {14},
      issn         = {1528-0020},
      address      = {Stanford, Calif.},
      publisher    = {HighWire Press},
      reportid     = {DKFZ-2017-04694},
      pages        = {1644-1648},
      year         = {2017},
      abstract     = {Classical hairy cell leukemia (cHCL) is characterized by a
                      near $100\%$ frequency of the BRAFV600E mutation, whereas
                      $∼30\%$ of variant HCLs (vHCLs) have MAP2K1 mutations.
                      However, recurrent genetic alterations cooperating with
                      BRAFV600E or MAP2K1 mutations in HCL, as well as those in
                      MAP2K1 wild-type vHCL, are not well defined. We therefore
                      performed deep targeted mutational and copy number analysis
                      of cHCL (n = 53) and vHCL (n = 8). The most common genetic
                      alteration in cHCL apart from BRAFV600E was heterozygous
                      loss of chromosome 7q, the minimally deleted region of which
                      targeted wild-type BRAF, subdividing cHCL into those
                      hemizygous versus heterozygous for the BRAFV600E mutation.
                      In addition to CDKN1B mutations in cHCL, recurrent
                      inactivating mutations in KMT2C (MLL3) were identified in
                      $15\%$ and $25\%$ of cHCLs and vHCLs, respectively.
                      Moreover, $13\%$ of vHCLs harbored predicted activating
                      mutations in CCND3 A change-of-function mutation in the
                      splicing factor U2AF1 was also present in $13\%$ of vHCLs.
                      Genomic analysis of de novo vemurafenib-resistant cHCL
                      identified a novel gain-of-function mutation in IRS1 and
                      losses of NF1 and NF2, each of which contributed to
                      resistance. These data provide further insight into the
                      genetic bases of cHCL and vHCL and mechanisms of RAF
                      inhibitor resistance encountered clinically.},
      keywords     = {Antineoplastic Agents (NLM Chemicals) / CCND3 protein,
                      human (NLM Chemicals) / CDKN1B protein, human (NLM
                      Chemicals) / Cyclin D3 (NLM Chemicals) / DNA-Binding
                      Proteins (NLM Chemicals) / Indoles (NLM Chemicals) / MLL3
                      protein, human (NLM Chemicals) / Splicing Factor U2AF (NLM
                      Chemicals) / Sulfonamides (NLM Chemicals) / U2AF1 protein,
                      human (NLM Chemicals) / Cyclin-Dependent Kinase Inhibitor
                      p27 (NLM Chemicals) / vemurafenib (NLM Chemicals) /
                      Proto-Oncogene Proteins B-raf (NLM Chemicals) / MAP Kinase
                      Kinase 1 (NLM Chemicals) / MAP2K1 protein, human (NLM
                      Chemicals)},
      cin          = {G250},
      ddc          = {610},
      cid          = {I:(DE-He78)G250-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28801450},
      doi          = {10.1182/blood-2017-01-765107},
      url          = {https://inrepo02.dkfz.de/record/128679},
}