Acoustic Neuroma, Neurofibromatosis Type 2, Vestibular Schwannoma
Conditions
Keywords
Whole exome sequencing, Neurofibromatosis Type 2, Acoustic Neuroma, Vestibular schwannoma
Brief summary
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.
Detailed description
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
Interventions
DIAGNOSTIC_TESTWhole exome sequencing
Whole exome sequencing
Sponsors
National Center for Tumor Diseases, Heidelberg
University Hospital Tuebingen
Study design
Observational model
CASE_CONTROL
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
1 Days to 99 Years
Healthy volunteers
No
Inclusion criteria
* Study population: Operated NF2-associated VS * Control group: Operated sporadic VS * Consent to participation in the study by the patient / legal guardian in prospective inclusion or consent to the use of stored specimens in retrospective inclusion * Age: 0 -99 years
Exclusion criteria
* Lack of informed consent * Patient's request (withdrawal of the consent statement for the evaluation of the data and further storage of the blood / tissue samples)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Correlation clinical-volumetric pathologies and distinct genetic features | Within 1 week after measurement | Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of genetic profiles for pre-interventional prediction of expected disease progression | Within 1 week after measurement | Identification of genetic profiles in the peripheral blood for pre-interventional prediction of expected disease progression as well as therapy monitoring |
Countries
Germany
Outcome results
None listed