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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

CPT4 code

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.

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