Whole exome sequencing (WES) of 50 sporadic and 50 Neurofibromatosis Type2 (NF2)-associated vestibularis schwannomas (VS) in children and young adults. The aim is to gain insight into the complete genome of the NF2 associated VS compared to sporadic VS (control group). These data are to be correlated with the clinic, ie the auditory function (audiogram, acoustically evoked potentials) and the clinical picture as well as the tumor growth rate and general data such as sex, age, side, etc.
Whole exome sequencing (WES) of 50 sporadic and 50 Neurofibromatosis Type2 (NF2)-associated vestibularis schwannomas (VS) in children and young adults. The aim is to gain insight into the complete genome of the NF2 associated VS compared to sporadic VS (control group). These data are to be correlated with the clinic, ie the auditory function (audiogram, acoustically evoked potentials) and the clinical picture as well as the tumor growth rate and general data such as sex, age, side, etc. The analysis of genetic changes should provide a better insight into the oncogenesis of these tumors. The distinct genetic characteristics between NF2-associated and sporadic VS suggest a different oncogenesis of these tumors. The correlation of the genetic characteristics with the partly very different clinical appearance and a very different dynamics of the disease, in particular the tumor volume in the course, identifies the underlying modifiers of the disease course. Based on these genetic modifiers, patients can be stratified and individual clinical therapy decisions can be made. By demonstrating these genetic profiles in the peripheral blood, prospective conclusions can be drawn about expected disease progression before intervention as well as for therapy monitoring
Study Type
OBSERVATIONAL
Enrollment
70
Whole exome sequencing
University Department of Neurosurgery Tübingen
Tübingen, Germany
Correlation clinical-volumetric pathologies and distinct genetic features
Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features
Time frame: Within 1 week after measurement
Identification of genetic profiles for pre-interventional prediction of expected disease progression
Identification of genetic profiles in the peripheral blood for pre-interventional prediction of expected disease progression as well as therapy monitoring
Time frame: Within 1 week after measurement
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