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@ARTICLE{Glss:169840,
      author       = {S. Glöss$^*$ and P. Jurmeister and A. Thieme$^*$ and S.
                      Schmid and W. Y. Cai and R. N. Serrette and S. Perner and J.
                      Ribbat-Idel and A. Pagenstecher and H. Bläker and U. Keber
                      and C. Stadelmann and S. Zechel and P. D. Johann$^*$ and M.
                      Hasselblatt and W. Paulus and C. Thomas and H. Dohmen and D.
                      Baumhoer and S. Frank and A. Agaimy and U. Schüller and V.
                      Vasudevaraja and M. Snuderl and C. Z. Liu and D. G. Pfister
                      and A. A. Jungbluth and R. A. Ghossein and B. Xu and D.
                      Capper$^*$ and S. Dogan},
      title        = {{IDH}2 {R}172 {M}utations {A}cross {P}oorly
                      {D}ifferentiated {S}inonasal {T}ract {M}alignancies: {F}orty
                      {M}olecularly {H}omogenous and {H}istologically {V}ariable
                      {C}ases {W}ith {F}avorable {O}utcome.},
      journal      = {The American journal of surgical pathology},
      volume       = {45},
      number       = {9},
      issn         = {0147-5185},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DKFZ-2021-01583},
      pages        = {1190-1204},
      year         = {2021},
      note         = {2021 Sep 1;45(9):1190-1204},
      abstract     = {IDH2 R172 mutations occur in sinonasal undifferentiated
                      carcinoma (SNUC), large-cell neuroendocrine carcinoma
                      (LCNEC), sinonasal adenocarcinomas, and olfactory
                      neuroblastoma (ONB). We performed a clinical, pathologic,
                      and genetic/epigenetic analysis of a large IDH2-mutated
                      sinonasal tumor cohort to explore their distinct features. A
                      total 165 sinonasal/skull base tumors included 40 IDH2
                      mutants studied by light microscopy, immunohistochemistry,
                      and genome-wide DNA methylation, and 125 IDH2 wild-type
                      tumors used for comparison. Methylation profiles were
                      analyzed by unsupervised hierarchical clustering,
                      t-distributed stochastic neighbor embedding dimensionality
                      reduction and assessed for copy number alterations (CNA).
                      Thirty-nine histologically assessable cases included 25
                      $(64.1\%)$ SNUC, 8 $(20.5\%)$ LCNEC, 2 $(5.1\%)$ poorly
                      differentiated adenocarcinomas, 1 $(2.7\%)$ ONB, and 3
                      $(7.7\%)$ IDH2-mutated tumors with ONB features. All cases
                      were high-grade showing necrosis $(82.4\%),$ prominent
                      nucleoli $(88.9\%),$ and median 21 mitoses/10 HPFs. AE1/AE3
                      and/or CAM 5.2 were positive in all and
                      insulinoma-associated protein 1 (INSM1) in $80\%$ cases. All
                      IDH2 mutants formed one distinct group by t-distributed
                      stochastic neighbor embedding dimensionality reduction
                      separating from all IDH2 wild-type tumors. There was no
                      correlation between methylation clusters and histopathologic
                      diagnoses. Recurrent CNA included 1q gain $(79.3\%),$ 17p
                      loss $(75.9\%),$ and 17q gain $(58.6\%).$ No CNA differences
                      were observed between SNUC and LCNEC. IDH2 mutants showed
                      better disease-specific survival than SMARCB1-deficient
                      (P=0.027) and IDH2 wild-type carcinomas overall (P=0.042).
                      IDH2-mutated sinonasal tumors are remarkably homogeneous at
                      the molecular level and distinct from IDH2 wild-type
                      sinonasal malignancies. Biology of IDH2-mutated sinonasal
                      tumors might be primarily defined by their unique molecular
                      fingerprint rather than by their respective histopathologic
                      diagnoses.},
      cin          = {BE01 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331 / 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:34265800},
      doi          = {10.1097/PAS.0000000000001697},
      url          = {https://inrepo02.dkfz.de/record/169840},
}