% 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{Rosswog:271246,
      author       = {C. Rosswog and J. Fassunke and A. Ernst and B.
                      Schömig-Markiefka and S. Merkelbach-Bruse and C.
                      Bartenhagen and M. Cartolano and S. Ackermann and J.
                      Theissen and M. Blattner-Johnson$^*$ and B. Jones$^*$ and K.
                      Schramm$^*$ and J. Altmüller and P. Nürnberg and M.
                      Ortmann and F. Berthold and M. Peifer and R. Büttner and F.
                      Westermann and J. H. Schulte and T. Simon and B. Hero and M.
                      Fischer},
      title        = {{G}enomic {ALK} alterations in primary and relapsed
                      neuroblastoma.},
      journal      = {British journal of cancer},
      volume       = {128},
      number       = {8},
      issn         = {0007-0920},
      address      = {Edinburgh},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2023-00378},
      pages        = {1559-1571},
      year         = {2023},
      note         = {2023 Apr;128(8):1559-1571},
      abstract     = {Genomic alterations of the anaplastic lymphoma kinase gene
                      (ALK) occur recurrently in neuroblastoma, a pediatric
                      malignancy of the sympathetic nervous system. However,
                      information on their development over time has remained
                      sparse.ALK alterations were assessed in neuroblastomas at
                      diagnosis and/or relapse from a total of 943 patients,
                      covering all stages of disease. Longitudinal information on
                      diagnostic and relapsed samples from individual patients was
                      available in 101 and 102 cases for mutation and
                      amplification status, respectively.At diagnosis, ALK point
                      mutations occurred in $10.5\%$ of all cases, with highest
                      frequencies in stage 4 patients <18 months. At relapse, ALK
                      alteration frequency increased by $70\%,$ both in high-risk
                      and non-high-risk cases. The increase was most likely due to
                      de novo mutations, frequently leading to R1275Q
                      substitutions, which are sensitive to pharmacological ALK
                      inhibition. By contrast, the frequency of ALK amplifications
                      did not change over the course of the disease. ALK
                      amplifications, but not mutations, were associated with poor
                      patient outcome.The considerably increased frequency of ALK
                      mutations at relapse and their high prevalence in young
                      stage 4 patients suggest surveying the genomic ALK status
                      regularly in these patient cohorts, and to evaluate
                      ALK-targeted treatment also in intermediate-risk patients.},
      cin          = {B360 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36807339},
      doi          = {10.1038/s41416-023-02208-y},
      url          = {https://inrepo02.dkfz.de/record/271246},
}