Erg, Germany).Results Both patients were diagnosed with astrocytoma and treatedErg, Germany).Results Both patients were diagnosed

Erg, Germany).Results Both patients were diagnosed with astrocytoma and treated
Erg, Germany).Results Both patients were diagnosed with astrocytoma and treated at the Department of Neurosurgery, trans-4-Hydroxytamoxifen web Central Military Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic. The patients gave their written consent for the use of their biological material for researchpurposes. The tumor tissues were taken during routine neurosurgical procedures and peripheral blood was used as the negative control. All resections were characterized by I-FISH, SNP array, MLPA and MS-PCR. Case no. 1 was a male patient who was diagnosed with gemistocytic astrocytoma (WHO grade II) at the age of 31 years. Six years later, a second radical resection (no tumor remnant was detected) was performed and the tumor was determined to be a diffuse astrocytoma (WHO grade II). A third resection (anaplastic astrocytoma WHO grade III) was performed 5 months later (Fig. 1). The tumor was localized in the left frontal lobe. The patient is currently undergoing treatment with chemotherapy and his survival is 101 months. Mutation R132H in the IDH1 gene was detected in all resections. The first resection was characterized by deletions, amplifications and CN-LOH on chromosomes 3, 7p, 9q, 12q, 13q and 19q (Fig. 2, Table 1). The changes in 13q and 19q were verified with I-FISH. PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/26024392 No hypermethylation of the MGMT promoter or any other promoter analyzed was detected (average ratio 25 ) [8]. The second resection included the same CNVs as the first, with additional changes on 10p, 13q and 19p. The hypermethylation of the MGMT promoter was confirmed in this resection. Additional deletions at 8q11.1q22.3 and 10q22.3q23.1, and trisomy of chromosome 7 (7 of cells), detected only with I-FISH, were found in the third resection. Case no. 2 was a female patient diagnosed with recurrent anaplastic astrocytoma (WHO grade III) at the age of 36 years. The second resection (anaplastic astrocytoma, WHO grade III) was performed 10 months later (Fig. 3). The tumor was localized in left parietal lobe. The patient was treated with chemotherapy, but died 1 year after the second resection from further tumor progression. Patient survival was 87 months. Both resections were characterized by the R132H mutation in the IDH1 gene, CNVs including chromosomes X, 5, 6, 16, 17 and 22 and chromosomal arms 4q, 7q, 9p, 10q, 11p, 13q, 14q, 18q and 19p (Fig. 4, Table 2). A chromothripsis was also detected on chromosome arm 13q. The first specimen had several unique features: CNLOH on chromosomes 2, 3p, 12q, and 21 and deletionFig. 3 Time line representing the dates of resection and the type of treatment the case no. 2 receivedLhotska et al. Molecular Cytogenetics (2016) 9:Page 6 ofFig. 4 Molecular cytogenetic and epigenetic analyses of the three lesions of case no. 2. a Results of the SNP array for each lesion, with the selection of three chromosomes, in which the additional changes were detected. Red bars indicate the deletion of a chromosomal region. Green bars represent amplifications, and CN-LOH is marked with gray boxes. b Results of I-FISH analysis confirming and extending the SNP array findings. 1, biallelic deletion of subtelomeric area of the long arm of chromosome 6; 2, biallelic deletion of the CDKN2A gene; 3, deletion of the PTEN gene in polyploid nuclei; 4, the RB1 gene and 13q34 were not affected by chromothripsisof 15q. The second resection was defined by CN-LOH on 1q and 2q, and the hypermethylation of the MLH3 and MGMT promoters. Methylation of MHL3 promoter wa.