Name of the Procedure:

Oncology (uveal melanoma), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing fine needle aspirate or formalin-fixed paraffin-embedded tissue, algorithm reported as risk of metastasis.

Summary

This procedure involves analyzing gene expression in uveal melanoma cells using a technology called real-time RT-PCR to assess the risk of cancer metastasis. This analysis is performed on tissue samples obtained either through a fine needle aspirate or from formalin-fixed paraffin-embedded (FFPE) tissue.

Purpose

The procedure is designed to:

• Assess the likelihood of metastatic spread (metastasis) in patients with uveal melanoma.
• Help guide treatment decisions by providing prognostic information about the cancer's behavior.

Indications

• Patients diagnosed with uveal melanoma, a type of cancer affecting the eye.
• Individuals requiring assessment of their risk of metastasis for personalized treatment planning.

Preparation

• No specific preparation such as fasting is usually required.
• Inform the physician about any medications you are taking.
• Diagnostic imaging or previous biopsy results might be reviewed beforehand.

Procedure Description

• A fine needle aspirate involves using a thin needle to extract a small sample of tissue from the eye tumor.
• Alternatively, an existing sample may be used if it's preserved as a formalin-fixed paraffin-embedded (FFPE) tissue.
• The tissue sample undergoes mRNA extraction followed by real-time RT-PCR (reverse transcription polymerase chain reaction) to measure the expression of 15 genes.
• The expression levels of 12 cancer-specific genes and 3 housekeeping genes serve as biomarkers to predict the risk of metastasis using an algorithm.

Duration

The entire testing process, including sample preparation and gene expression profiling, usually takes a few days to a week.

Setting

• The tissue sample can be collected in an outpatient clinic or surgical center.
• The laboratory analysis is performed in a specialized diagnostic lab.

Personnel

• Ophthalmologists or oncologists may collect the tissue sample.
• Laboratory technicians and molecular biologists perform the gene expression analysis.
• Pathologists may interpret the results.

Risks and Complications

• Minimal risks associated with fine needle aspiration, including mild discomfort, bleeding, or infection at the needle site.
• The lab analysis itself has no direct risks but may carry the possibility of inconclusive or inaccurate results, necessitating further testing.

Benefits

• Provides valuable information about the risk of uveal melanoma spreading, facilitating better-informed treatment decisions.
• Can help tailor personalized treatment plans to improve outcomes.
• Results may allow patients to avoid unnecessary aggressive treatments.

Recovery

• If a fine needle aspirate is performed, minor soreness or bruising at the sample site may occur but typically resolves quickly.
• There are generally no restrictions or extensive recovery periods needed after the sample collection.

Alternatives

• Other prognostic tests and imaging techniques might be used to assess metastasis risk.
• Alternative methods may include larger biopsies or different molecular tests, each with its own pros and cons regarding invasiveness, accuracy, and speed.

Patient Experience

• During the fine needle aspirate, patients might feel a quick, sharp pinch but usually not severe pain.
• Mild discomfort may persist at the extraction site.
• Overall, the procedure and subsequent testing are minimally invasive with little impact on day-to-day activities.