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  • 1
    In: Brain Pathology, January 2012, Vol.22(1), pp.26-31
    Description: Mutations in the isocitrate dehydrogenase () 1 and 2 genes occur frequently in diffuse astrocytoma and oligodendroglioma. The consecutive amino acid substitutions in the mutant proteins result in a gain of the function to catalyze the reduction of alpha‐ketoglutarate to 2‐hydroxyglutarate (2HG). So far, all investigated mutations share this gain of function. We here describe a method to detect 2HG levels in archival formalin‐fixed paraffin‐embedded tumor specimens by stable isotope dilution using gas chromatography followed by mass spectrometry (GC/MS). While 2HG levels are notably decreased during the routine embedding process, preserved amounts are still sufficient to indicate a mutation. Detection of 2HG in archival specimens could make routinely processed tissue accessible for research on 2HG accumulation and may allow studies on correlation with clinical data.
    Keywords: 2‐Hydroxyglutarate ; Ffpe ; Gc/Ms ; Glioma ; Idh1 ; Idh2 ; Stable Isotope Dilution
    ISSN: 1015-6305
    E-ISSN: 1750-3639
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  • 2
    In: Brain Pathology, April 2014, Vol.24(3), pp.221-229
    Description: V600E mutation and homozygous deletion of (16) are frequent molecular alterations in pleomorphic xanthoastrocytomas (s). We investigated 49 for clinical, histological and immunohistochemical characteristics related to mutation status. mutation was detected by immunohistochemical assay and DNA sequencing in 38/49 (78%) tumors. All but one located in the temporal lobe harbored a V600E mutation (23/24; 96%) compared with 10/19 nontemporal (53%;  = 0.0009). Histological and immunohistochemical analysis demonstrated increased reticulin deposition (76% vs. 27%;  = 0.003) and a more frequent expression of 34 in ‐mutant (76% vs. 27%;  = 0.003). We further investigated the utility of combined V600E (1) and 16 analysis by immunohistochemistry to distinguish from relevant histological mimics like giant‐cell glioblastoma. Among , 38/49 (78%) were 1‐positive, and 30/49 (61%) had a loss of p16 expression. The combined features (1 positivity/16 loss) were observed in 25/49 (51%) but were not observed in giant‐cell glioblastoma (1 0/28, 16 loss 14/28). We demonstrate that temporal location, reticulin deposition and 34 expression are associated with mutation in . Combined 1 positivity and 16 loss represents a frequent immunoprofile of and may therefore constitute an additional diagnostic tool for its differential diagnosis.
    Keywords: Brain Tumor ; Braf V600e ; Cdkn2a ; 34 ; Immunohistochemistry ; Pleomorphic Xanthoastrocytoma ; 16 ; 1
    ISSN: 1015-6305
    E-ISSN: 1750-3639
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  • 3
    In: Brain Pathology, July 2016, Vol.26(4), pp.506-516
    Description: The “pediatric targeted therapy” (PTT) program aims to identify the presence and activity of druggable targets and evaluate the clinical benefit of a personalized treatment approach in relapsed or progressive tumors on an individual basis. 10 markers (HDAC2, HR23B, p‐AKT, p‐ERK, p‐S6, p‐EGFR, PDGFR‐alpha/beta, p53 and BRAFV600E) were analyzed by immunohistochemistry. Pediatric patients with tumors independent of the histological diagnosis, with relapse or progression after treatment according to standard protocols were included.  = 61/145 (42%) cases were eligible for analysis between 2009 and 2013, the most common entities being brain tumors. Immunohistochemical stainings were evaluated by the ‐Score (0–300). In 93% of the cases potentially actionable targets were identified. The expressed or activated pathways were histone deacetylase (HDACs; 83.0% of cases positive), EGFR (87.2%), PDGFR (75.9%), p53 (50.0%), MAPK/ERK (43.3%) and PI3K/mTOR (36.1%). Follow‐up revealed partial or full implementation of PTT results in treatment decision‐making in 41% of the cases. Prolonged disease stabilization responses in single cases were noticed, however, response rates did not differ from cases treated with other modalities. Further studies evaluating the feasibility and clinical benefit of personalized diagnostic approaches using paraffin material are warranted.
    Keywords: Brain Tumors ; Pediatric Oncology ; Personalized Medicine ; Targeted Therapy ; Relapsed Childhood Tumors ; Predictive Markers
    ISSN: 1015-6305
    E-ISSN: 1750-3639
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  • 4
    In: Brain Pathology, March 2015, Vol.25(2), pp.202-208
    Description: Melanotic tumors of the nervous system show overlapping histological characteristics but differ substantially in their biological behavior. In order to achieve a better delineation of such tumors, we performed an in‐depth molecular characterization. Eighteen melanocytomas, 12 melanomas, and 14 melanotic and 14 conventional schwannomas (control group) were investigated for methylome patterns (450k array), gene mutations associated with melanotic tumors and copy number variants (s). The methylome fingerprints assigned tumors to entity‐specific groups. Methylation groups also showed a substantial overlap with histology‐based diagnosis suggesting that they represent true biological entities. On the molecular level, melanotic schwannomas were characterized by a complex karyotype with recurrent monosomy of chromosome 22q and variable whole chromosomal gains and recurrent losses commonly involving chromosomes 1, 17p and 21. Melanocytomas carried mutations and presented with involving chromosomes 3 and 6. Melanomas were frequently mutated in the promoter, harbored additional oncogene mutations and showed recurrent chromosomal losses involving chromosomes 9, 10 and 6q, as well as gains of 22q. Together, melanotic nervous system tumors have several distinct mutational and chromosomal alterations and can reliably be distinguished by methylome profiling.
    Keywords: 450k ; Copy Number Variants ; Gna 11 ; Gnaq ; Melanocytoma ; Melanoma ; Melanotic Schwannoma ; Tert Promoter
    ISSN: 1015-6305
    E-ISSN: 1750-3639
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