| Summary: | 碩士 === 國立陽明大學 === 生物醫學資訊研究所 === 100 === Atypical Teratoid Rhabdoid Tumor (AT/RT) is a type of rare brain tumor which usually occurs in children under three years old, and may occur in older children or in very rare instances, in adults. The survival rates of children under three years old diagnosed with AT/RT are low. From previous clinical studies, we find cases misdiagnosed as medulloblastoma wherein AT/RT patients were treated using the therapy for medulloblastoma, usually with poor outcomes. The classical strategy is to use a genomic method to examine whether patients have the INI1 mutations. However, many AT/RT patients do not have the INI1 mutation.
In this study, we use exome-sequencing, which is a kind of next generation sequencing technique, to collect the sequence data from the tumor tissues of five patients. We compare those five datasets with public databases to find rare mutations and survey literature to confirm whether the mutation gene is correlated to the specific diseases or not. The clarification of the relations between diseases and genes can help the genomic method diagnose more precisely. Finally, we discuss the feasibility of applying the method used in this research for personal medical care.
The five datasets in our study do not have INI1 mutations. However, after initial variant filtration, covariates are found in chromosome 19 among the five patients, and
the mutation genes exist in other studies. This points to those mutation genes being related to the specific syndrome and tumor, such as seizure and embryonal tumor, respectively. AT/RT is a kind of embryonal tumor and seizure is one of the AT/RT syndromes. Using these results, we may develop a strategy for disease prediction
based on the existence of the mutation in chromosomes, occurrence of the disease and data from clinical studies. In particular, some rare diseases occur at certain ages,
and this study may help develop personal medical profiles for preventative or early warning reports.
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