RAPID DETECTION OF THE IDH1 R132H MUTATION IN GLIOMAS USING RECOMBINASE POLYMERASE AMPLIFICATION

<p>Glioblastoma is the most common form of brain cancer and patients diagnosed have an average life expectancy of about a year. Northern Michigan University developed an assay to improve diagnosis of the IDH1-R132H mutation. Diagnosis guided resections has potential to extend life expectancy up to 10 years. Our assay identifies the status of the IDH1-R132H mutation which has a characteristic of slower growth. Surgery requires a delicate balance between resecting more of the tumor and not taking the healthy tissue. Surgical resection should be minimized to reduce debilitating risks and because maximal resections do not benefit IDH1 wildtype tumors. However, more aggressive surgical resection of tumors improves survival rates among carriers of the mutation. Currently, when the surgeon extracts a tumor sample it takes about 2 weeks for labs to test and identify the status of the IDH1 mutation. I have developed an assay to detect the IDH1-R132H mutation using recombinase polymerase amplification in 8 minutes. Our assay is practical for cancer diagnostics because of its simplicity, specificity, and sensitivity. The isothermal nature of the reaction adds to its simplicity. We have designed highly specific primers with locked nucleic acids to discriminate between wildtype and mutant IDH1-R132H mutation. We have developed our assay to detect low copies of tumor DNA in various matrices. Our assay could provide a more rapid detection of the IDH1-R132H status so that decision could be determined intraoperatively. Ultimately, our assay will build a framework for future research at the Upper Michigan Brain Tumor Center.</p>

Name thesis:degree_name

Master of Science

Level thesis:degree_level

Thesis

Discipline thesis:degree_discipline

Biology

Year dc:date.available

2023

Author dc:creator

• Smith, Collin

Contributors dc:contributor

• Dr. Robert J Winn

• Recombinase Polymerase Amplification
• IDH1 R132H mutation
• cancer
• glioma
• diagnostics
• Cancer Biology

Repository record dc:identifier

https://commons.nmu.edu/theses/765

OAI identifier oai:identifier

oai:commons.nmu.edu:theses-1820