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@ARTICLE{Sohier:304590,
      author       = {P. Sohier and M. Battistella and M. Mouthon and A. de la
                      Fouchardière and N. Ortonne and R. Vergara and J. Cyrta and
                      A. Gros and E. Laharanne and E. Calonje and S. Menguy and L.
                      Lamant and A. von Deimling$^*$ and F. Tirode and D.
                      Pissaloux and B. Cribier and T. Kervarrec and N. Macagno},
      title        = {{C}omprehensive {M}olecular {P}rofiling of {C}ribriform
                      {T}umors: {I}dentification of {R}ecurrent 6q/9q {C}odeletion
                      and {CD}38 {E}xpression.},
      journal      = {Modern pathology},
      volume       = {nn},
      issn         = {0893-3952},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2025-01913},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      abstract     = {Cribriform tumor is a distinctive cutaneous adnexal tumor
                      with a cribriform growth pattern. Initially described as
                      carcinomas, cribriform tumors exhibit an indolent clinical
                      course. In contrast to many other adnexal skin neoplasms,
                      the oncogenic driver of cribriform tumors is still unknown.
                      This study aims to provide a novel characterization of
                      cribriform tumors, focusing on the molecular and gene
                      expression profiles revealed by whole transcriptome analysis
                      using RNA sequencing and DNA methylation analysis, and
                      describe the resulting novel genetic and protein biomarkers.
                      The study analyzed 15 cases of cribriform tumors, including
                      five female patients. The median age at diagnosis was 62
                      years (range: 37-86 years). The most common tumor locations
                      were lower (n = 10) and upper extremities (n = 5).
                      Histopathological analysis revealed that all tumors were
                      dermally located, with subcutaneous extension in 11 cases.
                      All cases exhibited a combination of trabecular, cystic, and
                      cribriform growth patterns. Unsupervised clustering based on
                      DNA methylation and transcriptomic profiles confirmed
                      cribriform tumors as a strikingly homogeneous molecular
                      entity, molecularly distinct from other adnexal neoplasms.
                      The low-risk G2/M and CINSARC transcriptomic signatures
                      detected in all tested cases further supported the indolent
                      nature of this neoplasm. Copy number variation analysis
                      derived from DNA methylation analysis revealed recurrent
                      6q/9q codeletion in 7/8 tested cases. This codeletion was
                      confirmed by FISH targeting the 6q and 9q loci in 6 cases
                      tested. RNA sequencing data did not reveal any recurrent
                      specific fusions or specific pathogenic variants. Gene
                      expression analysis focusing on differentially expressed
                      genes between cribriform tumors and other cutaneous tumors
                      revealed overexpression of CD38 in all cribriform tumors.
                      Consistent with these findings, immunohistochemical analysis
                      demonstrated CD38 expression in all cribriform tumors but
                      not in controls (n=29). In conclusion, our findings support
                      that cribriform tumors represent a homogeneous group of
                      cutaneous adnexal neoplasms characterized by recurrent 6q/9q
                      co-deletions and CD38 expression.},
      cin          = {B300 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / 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:40946743},
      doi          = {10.1016/j.modpat.2025.100889},
      url          = {https://inrepo02.dkfz.de/record/304590},
}