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000277808 1001_ $$aFunke, Viktoria L E$$b0
000277808 245__ $$aMitochondrial DNA mutations in Medulloblastoma.
000277808 260__ $$aLondon$$bBiomed Central$$c2023
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000277808 520__ $$aTo date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to its division into four groups-WNT, SHH, group 3 (G3) and group 4 (G4). However, there is little information about the relevance of pathogenic mitochondrial DNA (mtDNA) mutations and their consequences across these. In this report, we describe the case of a female patient with MB and a mitochondriopathy, followed by a study of mtDNA variants in MB groups. After being diagnosed with G4 MB, the index patient was treated in line with the HIT 2000 protocol with no indications of relapse after five years. Long-term side effects of treatment were complemented by additional neurological symptoms and elevated lactate levels ten years later, resulting in suspected mitochondrial disease. This was confirmed by identifying a mutation in the MT-TS1 gene which appeared homoplasmic in patient tissue and heteroplasmic in the patient's mother. Motivated by this case, we explored mtDNA mutations across 444 patients from ICGC and HIT cohorts. While there was no statistically significant enrichment of mutations in one MB group, both cohorts encompassed a small group of patients harbouring potentially deleterious mtDNA variants. The case presented here highlights the possible similarities between sequelae caused by MB treatment and neurological symptoms of mitochondrial dysfunction, which may apply to patients across all MB groups. In the context of the current advances in characterising and interpreting mtDNA aberrations, recognising affected patients could enhance our future knowledge regarding the mutations' impact on carcinogenesis and cancer treatment.
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000277808 650_7 $$2Other$$aDNA mutational analysis
000277808 650_7 $$2Other$$aDNA, Mitochondrial
000277808 650_7 $$2Other$$aMedulloblastoma
000277808 650_7 $$2Other$$aMitochondrial diseases
000277808 7001_ $$aSandmann, Sarah$$b1
000277808 7001_ $$aMelcher, Viktoria$$b2
000277808 7001_ $$aSeggewiss, Jochen$$b3
000277808 7001_ $$aHorvath, Judit$$b4
000277808 7001_ $$0P:(DE-He78)bff9e3e3d86865d2b0836bb8f3ce98f3$$aJäger, Natalie$$b5$$udkfz
000277808 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b6$$udkfz
000277808 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b7$$udkfz
000277808 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b8$$udkfz
000277808 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, Till$$b9$$udkfz
000277808 7001_ $$aRutkowski, Stefan$$b10
000277808 7001_ $$aMynarek, Martin$$b11
000277808 7001_ $$aVarghese, Julian$$b12
000277808 7001_ $$aSträter, Ronald$$b13
000277808 7001_ $$aRust, Stephan$$b14
000277808 7001_ $$aSeelhöfer, Anja$$b15
000277808 7001_ $$aReunert, Janine$$b16
000277808 7001_ $$aFiedler, Barbara$$b17
000277808 7001_ $$aSchüller, Ulrich$$b18
000277808 7001_ $$aMarquardt, Thorsten$$b19
000277808 7001_ $$00000-0002-5676-8102$$aKerl, Kornelius$$b20
000277808 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-023-01602-0$$gVol. 11, no. 1, p. 124$$n1$$p124$$tActa Neuropathologica Communications$$v11$$x2051-5960$$y2023
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