Assuntos
Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/cirurgia , Procedimentos Cirúrgicos Dermatológicos/métodos , Ossificação Heterotópica/diagnóstico , Ossificação Heterotópica/cirurgia , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/patologia , Dermatoses do Couro Cabeludo/cirurgia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/cirurgia , Idoso , Diagnóstico Diferencial , Humanos , Masculino , Resultado do TratamentoRESUMO
Glioblastoma is characterized by widespread genetic and transcriptional heterogeneity, yet little is known about the role of the epigenome in glioblastoma disease progression. Here, we present genome-scale maps of DNA methylation in matched primary and recurring glioblastoma tumors, using data from a highly annotated clinical cohort that was selected through a national patient registry. We demonstrate the feasibility of DNA methylation mapping in a large set of routinely collected FFPE samples, and we validate bisulfite sequencing as a multipurpose assay that allowed us to infer a range of different genetic, epigenetic, and transcriptional characteristics of the profiled tumor samples. On the basis of these data, we identified subtle differences between primary and recurring tumors, links between DNA methylation and the tumor microenvironment, and an association of epigenetic tumor heterogeneity with patient survival. In summary, this study establishes an open resource for dissecting DNA methylation heterogeneity in a genetically diverse and heterogeneous cancer, and it demonstrates the feasibility of integrating epigenomics, radiology, and digital pathology for a national cohort, thereby leveraging existing samples and data collected as part of routine clinical practice.
Assuntos
Metilação de DNA/genética , Genoma Humano/genética , Glioblastoma/genética , Recidiva Local de Neoplasia/genética , Mapeamento Cromossômico , Progressão da Doença , Epigênese Genética , Feminino , Heterogeneidade Genética , Glioblastoma/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Recidiva Local de Neoplasia/patologiaRESUMO
We report on the case of a 86-year-old male patient with a rapidly growing nodule within the right lobe of the thyroid gland, which after hemithyroidectomy, turned out to be a mucosa-associated lymphoid tissue (MALT) lymphoma of the thyroid gland. In addition, Hashimoto's thyroiditis was reported in the thyroid tissue adjacent to the MALT lymphoma. During follow-up a second nodule emerged within the left lobe and, because of evidence of MALT lymphoma recurrence, F-18-FDG-PET was performed. F-18-FDG-PET imaged a clearly increased accumulation within the whole left lobe and isthmus. Thus, no differences in the degree of hypermetabolism could be imaged between the nodule and the adjacent thyroid tissue. To our knowledge, this is the first report about F-18-FDG-PET in a patient with MALT lymphoma of the thyroid. Literature search revealed only a few cases of MALT lymphomas in locations other than the thyroid gland that were studied with F-18-FDG-PET. In no case was F-18 FDG accumulation seen in the MALT lesions. However, clear F-18 FDG accumulation was reported in some patients with Hashimoto's thyroiditis. It is concluded that the intensive F-18-FDG accumulation within the whole left lobe and isthmus of the presented case was due to the coexisting Hashimoto's thyroiditis. Consequently, F-18-FDG-PET imaging does not seem to be indicated in a patient with MALT lymphoma and known Hashimoto's thyroiditis in order to evaluate the status of the MALT lymphoma.