Home > Publications database > Molecular stratification of medulloblastoma: comparison of histological and genetic methods to detect Wnt activated tumours. > print |
001 | 126609 | ||
005 | 20240228140835.0 | ||
024 | 7 | _ | |a 10.1111/nan.12161 |2 doi |
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024 | 7 | _ | |a 0305-1846 |2 ISSN |
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037 | _ | _ | |a DKFZ-2017-02637 |
041 | _ | _ | |a eng |
082 | _ | _ | |a 610 |
100 | 1 | _ | |a Goschzik, Tobias |b 0 |
245 | _ | _ | |a Molecular stratification of medulloblastoma: comparison of histological and genetic methods to detect Wnt activated tumours. |
260 | _ | _ | |a Oxford [u.a.] |c 2015 |b Wiley-Blackwell |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1508415027_6846 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
520 | _ | _ | |a Wnt activation in medulloblastomas is associated with good outcome. Upfront testing and risk-adapted stratification of patients will be done in future clinical studies. In a cohort of 186 paediatric medulloblastomas our aim was to identify the optimal methods in standard clinical practice to detect this subgroup.Nuclear accumulation of β-catenin was analysed by immunohistochemistry (IHC). DNA of FFPE tissue was amplified by PCR for single-strand conformation polymorphism analysis and direct sequencing of CTNNB1 exon 3. Copy number of chromosome 6 was analysed by multiplex ligation-dependent probe amplification and molecular inversion profiling.Different automated immunostaining systems showed similar results. Twenty-one of 186 samples had nuclear accumulation in ≥5% of cells, 17 samples showed <5% β-catenin positive nuclei. None of these 17 cases had CTNNB1 mutations, but 18 of 21 cases with ≥5% accumulation did, identifying these 18 cases as Wnt-subgroup medulloblastomas. Fifteen of 18 mutated cases showed monosomy 6, 3 had balanced chromosome 6. On the contrary, none of the CTNNB1 wild-type tumours had monosomy 6.Standard neuropathological evaluation of medulloblastoma samples should include IHC of β-catenin because tumours with high nuclear accumulation of β-catenin most probably belong to the Wnt subgroup of medulloblastomas. Still, IHC alone may be insufficient to detect all Wnt cases. Similarly, chromosome 6 aberrations were not present in all CTNNB1-mutated cases. Therefore, we conclude that sequencing analysis of CTNNB1 exon 3 in combination with β-catenin IHC (possibly as pre-screening method) is a feasible and cost-efficient way for the determination of Wnt medulloblastomas. |
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588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
650 | _ | 7 | |a CTNNB1 protein, human |2 NLM Chemicals |
650 | _ | 7 | |a beta Catenin |2 NLM Chemicals |
700 | 1 | _ | |a Zur Mühlen, Anja |b 1 |
700 | 1 | _ | |a Kristiansen, Glen |b 2 |
700 | 1 | _ | |a Haberler, Christine |b 3 |
700 | 1 | _ | |a Stefanits, Harald |b 4 |
700 | 1 | _ | |a Friedrich, Carsten |b 5 |
700 | 1 | _ | |a von Hoff, Katja |b 6 |
700 | 1 | _ | |a Rutkowski, Stefan |b 7 |
700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 8 |u dkfz |
700 | 1 | _ | |a Pietsch, Torsten |b 9 |
773 | _ | _ | |a 10.1111/nan.12161 |g Vol. 41, no. 2, p. 135 - 144 |0 PERI:(DE-600)2008293-9 |n 2 |p 135 - 144 |t Neuropathology & applied neurobiology |v 41 |y 2015 |x 0305-1846 |
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