% 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{Wang:141144,
      author       = {A. C. Wang and D. Jones$^*$ and I. J. Abecassis and B. L.
                      Cole and S. E. S. Leary and C. M. Lockwood and L. Chavez$^*$
                      and D. Capper$^*$ and A. Korshunov$^*$ and A. Fallah and S.
                      Wang and C. Ene and J. M. Olson and J. R. Geyer and E. C.
                      Holland and A. Lee and R. G. Ellenbogen and J. G. Ojemann},
      title        = {{D}esmoplastic {I}nfantile {G}anglioglioma/{A}strocytoma
                      ({DIG}/{DIA}) {A}re {D}istinct {E}ntities with {F}requent
                      {BRAFV}600 {M}utations.},
      journal      = {Molecular cancer research},
      volume       = {16},
      number       = {10},
      issn         = {1541-7786},
      address      = {Philadelphia, Pa.},
      publisher    = {AACR},
      reportid     = {DKFZ-2018-01675},
      pages        = {1491 - 1498},
      year         = {2018},
      abstract     = {Desmoplastic infantile ganglioglioma (DIG) and desmoplastic
                      infantile astrocytoma (DIA) are extremely rare tumors that
                      typically arise in infancy; however, these entities have not
                      been well characterized in terms of genetic alterations or
                      clinical outcomes. Here, through a multi-institutional
                      collaboration, the largest cohort of DIG/DIA to date is
                      examined using advanced laboratory and data processing
                      techniques. Targeted DNA exome sequencing and DNA
                      methylation profiling were performed on tumor specimens
                      obtained from different patients (n = 8) diagnosed
                      histologically as DIG/DIGA. Two of these cases clustered
                      with other tumor entities, and were excluded from analysis.
                      The remaining 16 cases were confirmed to be DIG/DIA by
                      histology and by DNA methylation profiling. Somatic BRAF
                      gene mutations were discovered in 7 instances $(43.8\%);$ 4
                      were BRAFV600E mutations, and 3 were BRAFV600D mutations.
                      Three instances of malignant transformation were found, and
                      sequencing of the recurrence demonstrated a new TP53
                      mutation in one case, new ATRX deletion in one case, and in
                      the third case, the original tumor harbored an EML4-ALK
                      fusion, also present at recurrence. DIG/DIA are distinct
                      pathologic entities that frequently harbor BRAFV600
                      mutations. Complete surgical resection is the ideal
                      treatment, and overall prognosis is excellent. While, the
                      small sample size and incomplete surgical records limit a
                      definitive conclusion about the risk of tumor recurrence,
                      the risk appears quite low. In rare cases with wild-type
                      BRAF, malignant progression can be observed, frequently with
                      the acquisition of other genetic alterations.Implications:
                      DIG/DIA are a distinct molecular entity, with a subset
                      frequently harboring either BRAFV600E or BRAFV600D
                      mutations. Mol Cancer Res; 16(10); 1491-8. ©2018 AACR.},
      cin          = {B062 / G380},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)G380-20160331},
      pnm          = {319H - Addenda (POF3-319H)},
      pid          = {G:(DE-HGF)POF3-319H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30006355},
      doi          = {10.1158/1541-7786.MCR-17-0507},
      url          = {https://inrepo02.dkfz.de/record/141144},
}