Name of the Procedure:

Oncology (urothelial cancer), RNA, analysis by real-time RT-PCR of the FGFR3 (fibroblast growth factor receptor 3) gene

Summary

This procedure involves the analysis of RNA to detect specific genetic mutations in the FGFR3 gene in cases of urothelial cancer. The analysis is conducted using real-time reverse transcription-polymerase chain reaction (RT-PCR) technology to identify specific mutations such as p.R248C, p.S249C, p.G370C, p.Y373C, as well as FGFR3-TACC3v1 and FGFR3-TACC3v3 variants.

Purpose

The procedure is designed to detect mutations in the FGFR3 gene, which are associated with urothelial cancer. Identifying these mutations can help in diagnosing the cancer, predicting prognosis, and guiding targeted therapy decisions.

Indications

• Patients with diagnosed or suspected urothelial cancer.
• Indications of genetic mutations in preliminary tests.
• Need for detailed genetic profiling to guide treatment options.

Preparation

• No specific preparations like fasting are typically required.
• Patients may need to provide a sample of cancerous tissue or bodily fluid (e.g., urine).
• Refer to healthcare provider instructions for sample collection.

Procedure Description

• A sample containing RNA is collected from the patient.
• In the laboratory, the RNA is extracted and converted into complementary DNA (cDNA) using reverse transcription.
• The cDNA is then amplified and analyzed using real-time RT-PCR to detect specific FGFR3 mutations.
• The technology used includes thermal cyclers and fluorescence detection systems to measure the amount of cDNA.

Duration

• The total procedure (from sample collection to analysis) may take several hours to a few days.
• The actual RT-PCR analysis typically takes about 2-3 hours.

Setting

The procedure is performed in a specialized laboratory equipped for genetic testing.

Personnel

• Medical laboratory technologists.
• Molecular pathologists or geneticists.
• Oncologists may be involved in interpreting the results.

Risks and Complications

• Minimal risks associated with the sample collection process, such as discomfort or infection if a tissue biopsy is required.
• Rarely, a sample may be insufficient for analysis, requiring re-collection.

Benefits

• Accurate detection of FGFR3 mutations can lead to a better understanding of the cancer.
• Helps guide personalized treatment plans and targeted therapies.
• May provide insight into prognosis and potential treatment outcomes.

Recovery

• Patients experience minimal to no downtime post-procedure, as it is lab-based.
• No specific post-procedure care is required.
• Follow-up appointments to discuss results and treatment plans with an oncologist.

Alternatives

• Other genetic testing methods, such as Sanger sequencing or next-generation sequencing (NGS).
• Pros: NGS can provide broader genetic information.
• Cons: Alternative methods may be more time-consuming and costly.

Patient Experience

• Most of the procedure takes place in a lab setting, meaning the patient’s direct involvement is limited to sample collection.
• Minimal discomfort if biopsy or fluid sample collection is needed.
• Results discussion with the oncologist to plan appropriate treatment steps.