% 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{Funke:277808,
      author       = {V. L. E. Funke and S. Sandmann and V. Melcher and J.
                      Seggewiss and J. Horvath and N. Jäger$^*$ and M. Kool$^*$
                      and D. T. W. Jones$^*$ and S. M. Pfister$^*$ and T.
                      Milde$^*$ and S. Rutkowski and M. Mynarek and J. Varghese
                      and R. Sträter and S. Rust and A. Seelhöfer and J. Reunert
                      and B. Fiedler and U. Schüller and T. Marquardt and K.
                      Kerl},
      title        = {{M}itochondrial {DNA} mutations in {M}edulloblastoma.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {11},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2023-01519},
      pages        = {124},
      year         = {2023},
      abstract     = {To date, several studies on genomic events underlying
                      medulloblastoma (MB) biology have expanded our understanding
                      of this tumour entity and led to its division into four
                      groups-WNT, SHH, group 3 (G3) and group 4 (G4). However,
                      there is little information about the relevance of
                      pathogenic mitochondrial DNA (mtDNA) mutations and their
                      consequences across these. In this report, we describe the
                      case of a female patient with MB and a mitochondriopathy,
                      followed by a study of mtDNA variants in MB groups. After
                      being diagnosed with G4 MB, the index patient was treated in
                      line with the HIT 2000 protocol with no indications of
                      relapse after five years. Long-term side effects of
                      treatment were complemented by additional neurological
                      symptoms and elevated lactate levels ten years later,
                      resulting in suspected mitochondrial disease. This was
                      confirmed by identifying a mutation in the MT-TS1 gene which
                      appeared homoplasmic in patient tissue and heteroplasmic in
                      the patient's mother. Motivated by this case, we explored
                      mtDNA mutations across 444 patients from ICGC and HIT
                      cohorts. While there was no statistically significant
                      enrichment of mutations in one MB group, both cohorts
                      encompassed a small group of patients harbouring potentially
                      deleterious mtDNA variants. The case presented here
                      highlights the possible similarities between sequelae caused
                      by MB treatment and neurological symptoms of mitochondrial
                      dysfunction, which may apply to patients across all MB
                      groups. In the context of the current advances in
                      characterising and interpreting mtDNA aberrations,
                      recognising affected patients could enhance our future
                      knowledge regarding the mutations' impact on carcinogenesis
                      and cancer treatment.},
      keywords     = {DNA mutational analysis (Other) / DNA, Mitochondrial
                      (Other) / Medulloblastoma (Other) / Mitochondrial diseases
                      (Other)},
      cin          = {B062 / HD01 / B360 / B310},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)B310-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37501103},
      doi          = {10.1186/s40478-023-01602-0},
      url          = {https://inrepo02.dkfz.de/record/277808},
}