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@ARTICLE{Guimares:278370,
      author       = {L. M. Guimarães and D. Baumhoer and V. Andrei and D.
                      Friedel$^*$ and C. Koelsche$^*$ and R. S. Gomez and A. von
                      Deimling$^*$ and C. C. Gomes},
      title        = {{DNA} methylation profile discriminates sporadic giant cell
                      granulomas of the jaws and cherubism from their giant
                      cell-rich histological mimics.},
      journal      = {The journal of pathology: clinical research},
      volume       = {9},
      number       = {6},
      issn         = {2056-4538},
      address      = {Chichester},
      publisher    = {Wiley},
      reportid     = {DKFZ-2023-01620},
      pages        = {464-474},
      year         = {2023},
      note         = {2023 Nov;9(6):464-474},
      abstract     = {Sporadic giant cell granulomas (GCGs) of the jaws and
                      cherubism-associated giant cell lesions share
                      histopathological features and microscopic diagnosis alone
                      can be challenging. Additionally, GCG can morphologically
                      closely resemble other giant cell-rich lesions, including
                      non-ossifying fibroma (NOF), aneurysmal bone cyst (ABC),
                      giant cell tumour of bone (GCTB), and chondroblastoma. The
                      epigenetic basis of these giant cell-rich tumours is unclear
                      and DNA methylation profiling has been shown to be
                      clinically useful for the diagnosis of other tumour types.
                      Therefore, we aimed to assess the DNA methylation profile of
                      central and peripheral sporadic GCG and cherubism to test
                      whether DNA methylation patterns can help to distinguish
                      them. Additionally, we compared the DNA methylation profile
                      of these lesions with those of other giant cell-rich mimics
                      to investigate if the microscopic similarities extend to the
                      epigenetic level. DNA methylation analysis was performed for
                      central (n = 10) and peripheral (n = 10) GCG, cherubism (n =
                      6), NOF (n = 10), ABC (n = 16), GCTB (n = 9), and
                      chondroblastoma (n = 10) using the Infinium Human
                      Methylation EPIC Chip. Central and peripheral sporadic GCG
                      and cherubism share a related DNA methylation pattern, with
                      those of peripheral GCG and cherubism appearing slightly
                      distinct, while central GCG shows overlap with both of the
                      former. NOF, ABC, GCTB, and chondroblastoma, on the other
                      hand, have distinct methylation patterns. The global and
                      enhancer-associated CpG DNA methylation values showed a
                      similar distribution pattern among central and peripheral
                      GCG and cherubism, with cherubism showing the lowest and
                      peripheral GCG having the highest median values. By
                      contrast, promoter regions showed a different methylation
                      distribution pattern, with cherubism showing the highest
                      median values. In conclusion, DNA methylation profiling is
                      currently not capable of clearly distinguishing sporadic and
                      cherubism-associated giant cell lesions. Conversely, it
                      could discriminate sporadic GCG of the jaws from their giant
                      cell-rich mimics (NOF, ABC, GCTB, and chondroblastoma).},
      keywords     = {DNA methylation (Other) / aneurysmal bone cyst (Other) /
                      bone pathology (Other) / cherubism (Other) / chondroblastoma
                      (Other) / copy number analysis (Other) / epigenetics (Other)
                      / giant cell granulomas (Other) / giant cell tumour of bone
                      (Other) / non-ossifying fibroma (Other)},
      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:37555357},
      doi          = {10.1002/cjp2.337},
      url          = {https://inrepo02.dkfz.de/record/278370},
}