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Published online Dec Author information Article notes Copyright and License information Disclaimer. Corresponding author. Received Nov 4; Accepted Dec 8. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.

The panel summarizes copy number variation CNV in whole chromosomes. Consensus of chromosome CNV is represented in red for copy gain events and in blue for loss events. Additional file 3 : Table 1. Clinical-pathological features and Tumor mutational burden of 39 GBMs enriched in giant cells. Cases are sorted by ID number. Table 2 : List of somatic and germline mutations identified in all samples. Table 3. Cases are arranged by TMB. Supplementary Information The online version contains supplementary material available at Mutational and copy number variation status of cancer-related genes Tumor mutational burden, mutations and copy number variations of cancer-related genes were assessed using the targeted next generation sequencing NGS panel Oncomine Tumor Mutational Load TML ThermoFisher , which covers 1.

Open in a separate window. Receptor Tyrosine Kinase pathway Thirteen Chromatin remodeling pathway Eight TERT promoter Twenty-four Numerical chromosomal alterations Based on the chromosomal position of each gene, the status of chromosome arms was inferred.

Parameter n Univariate analysis Multivariate analysis H. Microsatellite Instability Two 5. MMR protein immunohistochemistry Immunostaining of MMR proteins was classified as retained or lost when absent in all tumor cells. Survival analysis Information on the OS was available for all patients. Consensus of chromosome CNV is represented in red for copy gain events and in blue for loss events K, tif.

Footnotes Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Contributor Information Valeria Barresi, Email: ti. References 1. IARC, Lyon. N Engl J Med. Mutation analysis of IDH1 in paired gliomas revealed IDH1 mutation was not associated with malignant progression but predicted longer survival.

Treatment and survival of patients harboring histological variants of glioblastoma. J Clin Neurosci. Genetic alterations in Gliosarcoma and giant cell Glioblastoma. Brain Pathol. Neurooncol Adv. Cytogenetic and molecular genetic analyses of giant cell glioblastoma multiforme reveal distinct profiles in giant cell and non-giant cell subpopulations.

Cancer Genet Cytogenet. Molecular genetic analysis of giant cell glioblastomas. Am J Pathol. Genetic profile of the giant cell glioblastoma. Lab Invest. Whole-exome sequencing revealed mutational profiles of giant cell glioblastomas. Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma. Acta Neuropathol. DNA qualification workflow for next generation sequencing of histopathological samples. Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift.

Front Genet. Integrative genomics viewer. Nat Biotechnol. A computational approach to distinguish somatic vs. PLoS Comput Biol. Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data.

Defining the clinical genomic landscape for real-world precision oncology. Solid pseudopapillary neoplasm of the pancreas and abdominal desmoid tumor in a patient carrying two different BRCA2 germline mutations: new horizons from tumor molecular profiling. Genes Basel doi: Li H, Durbin R. Fast and accurate short read alignment with Burrows—Wheeler transform.

Tischler G, Leonard S. Source Code Biol Med. Bioinformatics —, Subclonal variant calling with multiple samples and prior knowledge. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. IntOGen: integration and data mining of multidimensional oncogenomic data. Nat Methods. Dual-genotype diffuse low-grade glioma: is it really time to abandon oligoastrocytoma as a distinct entity? J Neuropathol Exp Neurol. Comprehensive analysis of hypermutation in human cancer. MSIsensor: microsatellite instability detection using paired tumor-normal sequence data. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Neuro Oncol. Germline mutation p. Fam Cancer. Mutational burden, immune checkpoint expression, and mismatch repair in glioma: implications for immune checkpoint immunotherapy. Comprehensive genomic profiling of pediatric low- and high-grade gliomas reveals genomic drivers, tumor mutational burden, and hypermutation signatures. Cancers Basel doi: Mechanisms and therapeutic implications of hypermutation in gliomas. High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability.

Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions. Genes Chromosomes Cancer. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. Ultra-Mutation in IDH wild-type glioblastomas of patients younger than 55 years is associated with defective mismatch repair, microsatellite instability, and giant cell enrichment.

Immune checkpoint inhibition for hypermutant Glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency.

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