Publications by authors named "Felix Thierfelder"
Aims: Although inactivation of the von Hippel-Lindau gene (VHL) on chromosome 3p25 is considered to be the major cause of hereditary endolymphatic sac tumours (ELSTs), the genetic background of sporadic ELST is largely unknown. The aim of this study was to determine the prevalence of VHL mutations in sporadic ELSTs and compare their characteristics to VHL-disease-related tumours.
Methods: Genetic and epigenetic alterations were compared between 11 sporadic and 11 VHL-disease-related ELSTs by targeted sequencing and DNA methylation analysis.
Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group "subependymoma, posterior fossa" (PFSE) of the recently established DNA methylation-based classification of central nervous system tumors. In contrast, most posterior fossa ependymomas exhibit a more aggressive biological behavior and are allocated to the molecular subgroups PFA or PFB. A subset of ependymomas shows epigenetic similarities with subependymomas, but the precise biology of these tumors and their potential relationships remain unknown.
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- Paragangliomas/pheochromocytomas are rare tumors that can arise from the adrenal gland or other ganglia, often linked to genetic mutations in about 40% of cases.
- A study of 57 cauda equina paragangliomas found that these tumors are genetically and epigenetically distinct from others and lack common chromosomal changes and SDH mutations.
- Cauda equina paragangliomas also have unique histological features and present a low recurrence rate without spreading outside the central nervous system, establishing them as a distinct tumor type.