% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Purkait:300164,
      author       = {S. Purkait and S. Praeger$^*$ and J. Felsberg and D. Pauck
                      and K. Kaulich$^*$ and M. Wolter and D. Koppstein$^*$ and G.
                      Reifenberger$^*$},
      title        = {{S}trong nuclear expression of {HOXB}13 is a reliable
                      surrogate marker for {DNA} methylome profiling to
                      distinguish myxopapillary ependymoma from spinal
                      ependymoma.},
      journal      = {Acta neuropathologica},
      volume       = {149},
      number       = {1},
      issn         = {0001-6322},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2025-00650},
      pages        = {29},
      year         = {2025},
      abstract     = {Spinal ependymoma and myxopapillary ependymoma are the two
                      most common spinal ependymal tumor types that feature
                      distinct histological characteristics, genetic alterations
                      and DNA methylation profiles. Their histological distinction
                      may be difficult in individual cases and molecular
                      diagnostic assessment, in particular DNA methylome
                      profiling, may then be required to assign the correct
                      diagnosis. Expression of the homeobox gene HOXB13 at the
                      mRNA and protein levels has been reported as a frequent
                      finding in myxopapillary ependymoma that may serve as a
                      diagnostic marker for these tumors. Here, we evaluated the
                      diagnostic role of HOXB13 immunostaining in 143 spinal
                      neoplasms, comprising 54 histologically classified
                      myxopapillary ependymomas, 46 histologically classified
                      spinal ependymomas, and various other tumor types.
                      Immunohistochemical results for HOXB13 protein were compared
                      to molecular findings obtained by bead array-based DNA
                      methylation and DNA copy number profiling, as well as next
                      generation gene panel sequencing-based mutational analysis.
                      Our findings indicate strong nuclear HOXB13 expression as a
                      reliable diagnostic marker for molecularly confirmed
                      myxopapillary ependymoma. Moreover, we provide evidence that
                      differential HOXB13 protein expression is related to
                      differential HOXB13-associated CpG site methylation in
                      myxopapillary vs. spinal ependymomas, which can be assessed
                      by targeted DNA methylation analysis. Taken together,
                      immunohistochemistry for HOXB13 protein expression and
                      targeted DNA methylation analysis of HOXB13 represent useful
                      surrogate approaches that may substitute for DNA methylome
                      profiling in routine diagnostics and facilitate precise
                      classification of spinal ependymal tumors. In particular,
                      strong nuclear HOXB13 immunoreactivity may serve as a novel
                      diagnostic criterion for the classification of myxopapillary
                      ependymoma.},
      keywords     = {Humans / Homeodomain Proteins: genetics / Homeodomain
                      Proteins: metabolism / Ependymoma: genetics / Ependymoma:
                      diagnosis / Ependymoma: metabolism / Ependymoma: pathology /
                      DNA Methylation / Spinal Cord Neoplasms: genetics / Spinal
                      Cord Neoplasms: diagnosis / Spinal Cord Neoplasms:
                      metabolism / Spinal Cord Neoplasms: pathology / Biomarkers,
                      Tumor: genetics / Biomarkers, Tumor: metabolism / Male /
                      Female / Diagnosis, Differential / Adult / Middle Aged / NF2
                      mutation (Other) / DNA methylation (Other) / Differential
                      diagnostics (Other) / HOXB13 (Other) / Immunohistochemistry
                      (Other) / Myxopapillary ependymoma (Other) / Homeodomain
                      Proteins (NLM Chemicals) / HOXB13 protein, human (NLM
                      Chemicals) / Biomarkers, Tumor (NLM Chemicals)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40137996},
      doi          = {DOI:10.1007/s00401-025-02866-7},
      url          = {https://inrepo02.dkfz.de/record/300164},
}