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@ARTICLE{Jurmeister:302800,
      author       = {P. Jurmeister$^*$ and M. Leitheiser and L. Bergmayr and E.
                      Payá Capilla and L. H. Mochmann and Y. Zhdanovich and F.
                      Engelhardt-Schott and K. Schleich and D. Klingler and E.
                      Chimal and C. M. Focke and G. E. Breimer and I. van Engen
                      van Grunsven and A. von Deimling$^*$ and D. Capper$^*$ and
                      F. Klauschen$^*$ and S. Ihrler},
      title        = {{B}iphasic {M}yoepithelial {C}arcinoma {W}ith 5p/5q {L}oss:
                      {M}orphomolecular {C}haracterization and {P}rovisional
                      {D}esignation of a {P}roposed {N}ovel {S}alivary {T}umor
                      {E}ntity.},
      journal      = {The American journal of surgical pathology},
      volume       = {49},
      number       = {9},
      issn         = {0147-5185},
      address      = {Philadelphia, Pa.},
      publisher    = {Lippincott Williams $\&$ Wilkins},
      reportid     = {DKFZ-2025-01340},
      pages        = {890-900},
      year         = {2025},
      note         = {2025 Jul 1;49(9):890-900},
      abstract     = {Salivary gland tumors are diagnostically challenging due to
                      major diversity of benign and malignant tumors with enormous
                      intra-tumorous and inter-tumorous heterogeneity and, hence,
                      frequently overlapping histologic features. DNA methylation
                      has greatly enhanced tumor classification in several organs
                      and led to the identification of previously unrecognized
                      entities. In a recent study on DNA methylation of salivary
                      gland tumors, we had identified a group of unclassifiable
                      tumors. In this study, we characterize this group through an
                      integrated analysis of clinical, histomorphologic,
                      immunohistochemical, and molecular features. This group of
                      12 tumors is characterized by small, clinically benign
                      appearing tumors with striking female predominance
                      $(91.7\%),$ the latter not paralleled in other salivary
                      tumor types. In addition to distinct DNA methylation
                      profiling, copy number analysis revealed unique alterations
                      with highly recurrent chromosome 5p/5q loss and frequent
                      amplification of the MDM2 locus on chromosome 12q.
                      Whole-exome and transcriptome sequencing detected no
                      recurrent mutations or fusions. The histomorphologic
                      features were only moderately distinct, comprising an
                      obligate, thereby variable admixture of biphasic-tubular and
                      monophasic-myoepithelial areas, low or absent nuclear
                      atypia, and minimal proliferation. Frequent invasive
                      behavior, a solitary lymph node metastasis, and the
                      molecular alterations, altogether, strongly support
                      classification as a, presumably low-grade, carcinoma.
                      Altogether, these findings clearly distinguish this tumor
                      group from histomorphologically similar tumor entities, in
                      particular myoepithelial carcinoma, epithelial-myoepithelial
                      carcinoma, and adenoid cystic carcinoma. We present thorough
                      arguments that this tumor group represents a distinct
                      salivary carcinoma entity rather than a variant of an
                      existing one. We propose the provisional designation
                      'Biphasic myoepithelial carcinoma with 5p/5q loss' for
                      discussion.},
      keywords     = {5p/5q loss (Other) / DNA methylation (Other) / MDM2 (Other)
                      / myoepithelial carcinoma (Other) / salivary gland tumors
                      (Other)},
      cin          = {MU01 / B300 / HD01 / BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)MU01-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)BE01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40590272},
      doi          = {10.1097/PAS.0000000000002450},
      url          = {https://inrepo02.dkfz.de/record/302800},
}