% 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{Tller:305632,
      author       = {P. Tüller and T. Kiefer and L. Jabbarli and K. Papaioannou
                      and K. Schramm$^*$ and N. Barwinski$^*$ and S. Schönberger
                      and I. B. Brecht and D. T. Schneider and E. Livingstone and
                      L. Zimmer and K. Fischhuber and A. Junker and S. Ting and C.
                      Kiewert and S. Göricke and N. Bechrakis and E. Biewald and
                      P. Ketteler},
      title        = {{M}elanoma of the {C}horoid and {C}iliary {B}ody in
                      {C}hildren: {R}emission of {M}etastatic {M}elanoma of the
                      {C}horoid {A}fter {T}reatment {W}ith {C}hemotherapy and
                      {I}mmune {C}heckpoint {I}nhibition.},
      journal      = {Pediatric blood $\&$ cancer},
      volume       = {nn},
      issn         = {1545-5009},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DKFZ-2025-02274},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      abstract     = {Uveal melanoma is the most common malignant primary
                      intraocular tumor in adults, associated with high mortality.
                      Pediatric uveal melanoma generally has a more favorable
                      course. However, when metastasis occurs, therapeutic options
                      are limited.Clinical presentation, treatment, and outcome of
                      children with uveal melanoma diagnosed in Germany and
                      Austria between 2013 and 2024 were analyzed.Since 2013, 12
                      children were diagnosed with uveal melanoma in Germany and
                      Austria-nine in the choroid, three in the ciliary body, and
                      iris. Treatment comprised enucleation (five patients),
                      external beam radiation with protons (two patients), ocular
                      brachytherapy (four patients), and endoresection (one
                      patient). Two patients developed metastasis. A 17-year-old
                      male with liver metastasis died 30 months after diagnosis. A
                      3-year-old male with metastatic choroidal melanoma presented
                      with metastasis 6 months after enucleation. Chemotherapy
                      followed by nivolumab and ipilimumab led to a complete
                      response. However, immunotherapy caused insulin-dependent
                      diabetes mellitus. Genetic testing revealed a pathogenic
                      constitutional TP53 variant, confirming Li-Fraumeni syndrome
                      (LFS). At 24 months after diagnosis of metastatic disease,
                      he remains in complete response.This report underscores the
                      rarity and diverse presentation of pediatric choroidal
                      melanoma. Diagnosis of LFS in one patient highlights the
                      importance of genetic testing for tumor predisposition and
                      personalized approaches in managing rare pediatric tumors.},
      keywords     = {Li–Fraumeni syndrome (Other) / diabetes mellitus (Other)
                      / ipilimumab (Other) / nivolumab (Other) / uveal melanoma
                      (Other)},
      cin          = {B360 / HD01 / ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)ED01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41189077},
      doi          = {10.1002/pbc.32147},
      url          = {https://inrepo02.dkfz.de/record/305632},
}