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@ARTICLE{Fincke:294035,
      author       = {V. E. Fincke and M. Steinbügl and H. E. Chun and K. Nemes
                      and M. Mucha and M. Loßner and F. Dorn and K. Gastberger
                      and S. Bühner and M. Sill$^*$ and T. Kröncke$^*$ and R.
                      Siebert and P. Melchior and R. Furtwängler and M. Schlesner
                      and C. Vokuhl and C. Röcken and P. Johann$^*$ and M. C.
                      Frühwald},
      title        = {{C}linical and {M}olecular {R}isk {F}actors in
                      {E}xtracranial {M}alignant {R}habdoid {T}umors: {T}oward an
                      {I}ntegrated {M}odel of {H}igh-{R}isk {T}umors.},
      journal      = {Clinical cancer research},
      volume       = {30},
      number       = {20},
      issn         = {1078-0432},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2024-02063},
      pages        = {4667 - 4680},
      year         = {2024},
      note         = {#LA:B062#},
      abstract     = {Extracranial malignant rhabdoid tumors (eMRT) are a
                      challenging entity. Despite the use of multimodal treatment
                      approaches, therapy failure occurs in $55\%$ to $67\%$ of
                      these. Molecular markers for identification of patients at
                      increased risk for relapse or refractory (R/R) disease are
                      not available. Clinical characteristics may only
                      insufficiently predict the individual course of
                      disease.Using the EU-RHAB database, we analyzed a cohort of
                      121 patients with eMRT clinically. For 81 patients,
                      molecular and clinical data were available, which were
                      further complemented with publicly available DNA molecular
                      data from 92 eMRTs. We aimed to delineate molecular risk
                      factors by dissecting the DNA methylome of these tumors.
                      Moreover, we establish clinical characteristics and
                      treatment details of R/R disease in a subcohort of 80
                      patients.Using consensus hierarchical clustering, we
                      identified three distinct subgroups, one of which (eMRT
                      standard risk) was associated with significantly improved
                      survival, irrespective of germline status and/or
                      localization. At the transcriptome level, this subgroup was
                      characterized by an overexpression of genes involved in
                      muscle development. A relevant proportion of patients
                      developed distant relapses or progressions; the median time
                      to the event was 4 months, underlining the need for early
                      identification and risk stratification of R/R disease. The
                      overall survival was significantly decreased in patients
                      with progressive disease when compared with relapse cases,
                      and reaching complete remission during salvage therapy
                      provided a survival benefit.Our analysis of eMRT in this
                      comprehensive cohort provides novel insights into the
                      patterns of relapse and integrates molecular and clinical
                      risk factors to guide clinical decision-making.},
      keywords     = {Humans / Rhabdoid Tumor: genetics / Rhabdoid Tumor:
                      pathology / Rhabdoid Tumor: therapy / Male / Female / Risk
                      Factors / Child, Preschool / Biomarkers, Tumor: genetics /
                      Infant / Child / Prognosis / DNA Methylation / Neoplasm
                      Recurrence, Local: genetics / Neoplasm Recurrence, Local:
                      pathology / Adolescent / Transcriptome / Gene Expression
                      Profiling / Biomarkers, Tumor (NLM Chemicals)},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / 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:39120581},
      doi          = {10.1158/1078-0432.CCR-23-3489},
      url          = {https://inrepo02.dkfz.de/record/294035},
}