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@ARTICLE{Kommoss:168372,
      author       = {F. K. Kommoss$^*$ and D. Stichel$^*$ and J. Mora and M.
                      Esteller and D. Jones$^*$ and S. M. Pfister$^*$ and E. Brack
                      and M. Wachtel and P. K. Bode and H.-P. Sinn and D. Schmidt
                      and T. Mentzel and F. Kommoss and F. Sahm$^*$ and A. von
                      Deimling$^*$ and C. Koelsche},
      title        = {{C}linicopathologic and molecular analysis of embryonal
                      rhabdomyosarcoma of the genitourinary tract: evidence for a
                      distinct {DICER}1-associated subgroup.},
      journal      = {Modern pathology},
      volume       = {34},
      number       = {8},
      issn         = {1530-0285},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2021-00861},
      pages        = {1558-1569},
      year         = {2021},
      note         = {#EA:B380#LA:B300# / 2021 Aug;34(8):1558-1569},
      abstract     = {Embryonal rhabdomyosarcoma (ERMS) of the uterus has
                      recently been shown to frequently harbor DICER1 mutations.
                      Interestingly, only rare cases of extrauterine
                      DICER1-associated ERMS, mostly located in the genitourinary
                      tract, have been reported to date. Our goal was to study
                      clinicopathologic and molecular profiles of DICER1-mutant
                      (DICER1-mut) and DICER1-wild type (DICER1-wt) ERMS in a
                      cohort of genitourinary tumors. We collected a cohort of 17
                      ERMS including nine uterine (four uterine corpus and five
                      cervix), one vaginal, and seven urinary tract tumors. DNA
                      sequencing revealed mutations of DICER1 in 9/9 uterine ERMS.
                      All other ERMS of our cohort were DICER1-wt. The median age
                      at diagnosis of patients with DICER1-mut and DICER1-wt ERMS
                      was 36 years and 5 years, respectively. Limited follow-up
                      data (available for 15/17 patients) suggested that
                      DICER1-mut ERMS might show a less aggressive clinical course
                      than DICER1-wt ERMS. Histological features only observed in
                      DICER1-mut ERMS were cartilaginous nodules (6/9 DICER1-mut
                      ERMS), in one case accompanied by foci of ossification.
                      Recurrent mutations identified in both DICER1-mut and
                      DICER1-wt ERMS affected KRAS, NRAS, and TP53. Copy number
                      analysis revealed similar structural variations with
                      frequent gains on chromosomes 2, 3, and 8, independent of
                      DICER1 mutation status. Unsupervised hierarchical clustering
                      of array-based whole-genome DNA methylation data of our
                      study cohort together with an extended methylation data set
                      including different RMS subtypes from genitourinary and
                      extra-genitourinary locations (n = 102), revealed a distinct
                      cluster for DICER1-mut ERMS. Such tumors clearly segregated
                      from the clusters of DICER1-wt ERMS, alveolar RMS, and
                      MYOD1-mutant spindle cell and sclerosing RMS. Only one
                      tumor, previously diagnosed as ERMS arising in the maxilla
                      of a 6-year-old boy clustered with DICER1-mut ERMS of the
                      uterus. Subsequent sequencing analysis identified two DICER1
                      mutations in the latter case. Our results suggest that
                      DICER1-mut ERMS might qualify as a distinct subtype in
                      future classifications of RMS.},
      cin          = {B380 / B300 / HD01 / B360 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B380-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33846547},
      doi          = {10.1038/s41379-021-00804-y},
      url          = {https://inrepo02.dkfz.de/record/168372},
}