Medizinische Universität Graz - Research portal
Selected Publication:
Sormann, A.
Elucidation of a novel familial tumor predisposition pathway linked to the chromosome locus 22q12.1 – from bedside to bench
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2021. pp. 63
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- Authors Med Uni Graz:
- Advisor:
- Seidel Markus
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- Abstract:
- Aim of this thesis was to elucidate the microdeletion at gene locus 22q12.1 in context with the case of a paediatric neuroblastoma patient and further, to visualize results of molecular-genetic investigations, as well as to present the current state of literature. A review of available research papers was performed using databases such as Pubmed. After evaluation, the redeemed information was visualized together with data from our index patient and her family and data from our genetic investigations. With our findings we further support the role of Myo18B functioning as a tumor suppressor and we present the first case of a microdeletion at the culprit locus in a neuroblastoma patient in literature. The aggressive and disseminating course of disease of our index patient also goes hand in hand of the finding of anchorage independent growth of cells in cell cultures reinforcing its metastatic quality when silenced. Upon closer investigation, the necessity emerged to ascertain more about the role Myo18B plays in physiological and pathophysiological pathways. This knowledge will allow for targeted therapy options and customized medical screening for affected individuals without disease manifestation.