% 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{Appay:141128,
      author       = {R. Appay and F. Fina and N. Macagno and L. Padovani and C.
                      Colin and D. Barets and J. Ordioni and D. Scavarda and F.
                      Giangaspero and M. Badiali and A. Korshunov$^*$ and S.
                      Pfister$^*$ and D. Jones$^*$ and D. Figarella-Branger},
      title        = {{D}uplications of {KIAA}1549 and {BRAF} screening by
                      {D}roplet {D}igital {PCR} from formalin-fixed
                      paraffin-embedded {DNA} is an accurate alternative for
                      {KIAA}1549-{BRAF} fusion detection in pilocytic
                      astrocytomas.},
      journal      = {Modern pathology},
      volume       = {31},
      number       = {10},
      issn         = {1530-0285},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2018-01659},
      pages        = {1490 - 1501},
      year         = {2018},
      abstract     = {Pilocytic astrocytomas represent the most common glioma
                      subtype in young patients and account for $5.4\%$ of all
                      gliomas. They are characterized by alterations in the
                      RAS-MAP kinase pathway, the most frequent being a tandem
                      duplication on chromosome 7q34 involving the BRAF gene,
                      resulting in oncogenic BRAF fusion proteins. BRAF fusion
                      involving the KIAA1549 gene is a hallmark of pilocytic
                      astrocytoma, but it has also been recorded in rare cases of
                      gangliogliomas, 1p/19q co-deleted oligodendroglial tumors,
                      and it is also a common feature of disseminated
                      oligodendroglial-like leptomeningeal neoplasm. In some
                      difficult cases, evidence for KIAA1549-BRAF fusion is of
                      utmost importance for the diagnosis. Moreover, because the
                      KIAA1549-BRAF fusion constitutively activates the MAP kinase
                      pathway, it represents a target for drugs such as MEK
                      inhibitors, and therefore, the detection of this genetic
                      abnormality is highly relevant in the context of clinical
                      trials applying such new approaches. In the present study,
                      we aimed to use the high sensitivity of Droplet Digital PCR
                      (DDPCR™) to predict KIAA1549-BRAF fusion on very small
                      amounts of formalin-fixed paraffin-embedded tissue in
                      routine practice. Therefore, we analyzed a training cohort
                      of 55 pilocytic astrocytomas in which the KIAA1549-BRAF
                      fusion status was known by RNA sequencing used as our gold
                      standard technique. Then, we analyzed a prospective cohort
                      of 40 pilocytic astrocytomas, 27 neuroepithelial tumors
                      remaining difficult to classify (pilocytic astrocytoma
                      versus ganglioglioma or diffuse glioma), 15 dysembryoplastic
                      neuroepithelial tumors, and 18 gangliogliomas. We could
                      demonstrate the usefulness and high accuracy $(100\%$
                      sensitivity and specificity when compared to RNA sequencing)
                      of DDPCR™ to assess the KIAA1549-BRAF fusion from very low
                      amounts of DNA isolated from formalin-fixed
                      paraffin-embedded specimens. BRAF duplication is both
                      necessary and sufficient to predict this fusion in most
                      cases and we propose that this single analysis could be used
                      in routine practice to save time, money, and precious
                      tissue.},
      cin          = {G380 / B062 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)G380-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {319H - Addenda (POF3-319H)},
      pid          = {G:(DE-HGF)POF3-319H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29802359},
      doi          = {10.1038/s41379-018-0050-6},
      url          = {https://inrepo02.dkfz.de/record/141128},
}