WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data

Study Overview
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Brief Summary
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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
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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

Official Title
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Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data

Conditions
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Neurofibromatosis Type 2, Vestibular Schwannoma, Acoustic Neuroma

Intervention / Treatment
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* Diagnostic Test: Whole exome sequencing


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 1 Day
Maximum Age: 99 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| NF2-associated VS<br>Patients after surgery of a NF2- associated vestibularis schwannoma: Whole exome sequencing of blood and tumor tissue | Diagnostic Test: Whole exome sequencing<br>* Whole exome sequencing<br>|
| Sporadic VS<br>Patients after surgery of a sporadic vestibularis schwannoma: : Whole exome sequencing of blood and tumor tissue | Diagnostic Test: Whole exome sequencing<br>* Whole exome sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Correlation clinical-volumetric pathologies and distinct genetic features | Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features | Within 1 week after measurement | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | Within 1 week after measurement | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Whole exome sequencing, Neurofibromatosis Type 2, Acoustic Neuroma, Vestibular schwannoma