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@ARTICLE{Bongaarts:177241,
      author       = {A. Bongaarts and C. Mijnsbergen and J. J. Anink and F. E.
                      Jansen and W. G. M. Spliet and W. F. A. den Dunnen and R.
                      Coras and I. Blümcke and W. Paulus and V. E. Gruber and T.
                      Scholl and J. A. Hainfellner and M. Feucht and K. Kotulska
                      and S. Jozwiak and W. Grajkowska and A. M. Buccoliero and C.
                      Caporalini and F. Giordano and L. Genitori and F.
                      Söylemezoğlu and J. Pimentel and D. T. W. Jones$^*$ and B.
                      P. Scicluna and A. Y. N. Schouten-van Meeteren and A.
                      Mühlebner and J. D. Mills and E. Aronica},
      title        = {{D}istinct {DNA} {M}ethylation {P}atterns of {S}ubependymal
                      {G}iant {C}ell {A}strocytomas in {T}uberous {S}clerosis
                      {C}omplex.},
      journal      = {Cellular and molecular neurobiology},
      volume       = {42},
      number       = {8},
      issn         = {1573-6830},
      address      = {Dordrecht},
      publisher    = {Springer Science + Business Media B.V},
      reportid     = {DKFZ-2021-02375},
      pages        = {2863-2892},
      year         = {2022},
      note         = {2022 Nov;42(8):2863-2892},
      abstract     = {Tuberous sclerosis complex (TSC) is a monogenic disorder
                      caused by mutations in either the TSC1 or TSC2 gene, two key
                      regulators of the mechanistic target of the rapamycin
                      complex pathway. Phenotypically, this leads to growth and
                      formation of hamartomas in several organs, including the
                      brain. Subependymal giant cell astrocytomas (SEGAs) are
                      low-grade brain tumors commonly associated with TSC.
                      Recently, gene expression studies provided evidence that the
                      immune system, the MAPK pathway and extracellular matrix
                      organization play an important role in SEGA development.
                      However, the precise mechanisms behind the gene expression
                      changes in SEGA are still largely unknown, providing a
                      potential role for DNA methylation. We investigated the
                      methylation profile of SEGAs using the Illumina Infinium
                      HumanMethylation450 BeadChip (SEGAs n = 42, periventricular
                      control n = 8). The SEGA methylation profile was enriched
                      for the adaptive immune system, T cell activation, leukocyte
                      mediated immunity, extracellular structure organization and
                      the ERK1 $\&$ ERK2 cascade. More interestingly, we
                      identified two subgroups in the SEGA methylation data and
                      show that the differentially expressed genes between the two
                      subgroups are related to the MAPK cascade and adaptive
                      immune response. Overall, this study shows that the immune
                      system, the MAPK pathway and extracellular matrix
                      organization are also affected on DNA methylation level,
                      suggesting that therapeutic intervention on DNA level could
                      be useful for these specific pathways in SEGA. Moreover, we
                      identified two subgroups in SEGA that seem to be driven by
                      changes in the adaptive immune response and MAPK pathway and
                      could potentially hold predictive information on target
                      treatment response.},
      keywords     = {Low-grade glioma (Other) / Methylation (Other) /
                      RNA-sequencing (Other) / SEGA (Other) / TSC (Other)},
      cin          = {B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34709498},
      doi          = {10.1007/s10571-021-01157-5},
      url          = {https://inrepo02.dkfz.de/record/177241},
}