Name of the Procedure:

Oncology (thyroid), gene expression analysis of 142 genes, utilizing fine needle aspirate, algorithm reported as a categorical result (e.g., benign or suspicious)

Summary

Gene expression analysis for thyroid oncology involves using a fine needle to extract a small sample of thyroid tissue. The sample is then tested for genetic markers from 142 genes to determine whether thyroid nodules are benign or suspicious.

Purpose

The procedure aims to diagnose thyroid nodules to decide if they are benign or potentially cancerous, reducing the need for more invasive procedures like surgery.

Indications

• Presence of thyroid nodules detected via physical examination or imaging.
• Symptoms such as difficulty swallowing, a visible neck lump, or voice changes.
• Patients with inconclusive results from a fine needle aspiration (FNA) cytology.

Preparation

• No specific fasting or diet restrictions.
• Continue regular medications unless advised otherwise.
• A physical examination and imaging studies like an ultrasound may precede the procedure.

Procedure Description

1. The area over the thyroid is cleaned and sterilized.
2. A fine needle is used to aspirate cells from the thyroid nodule.
3. The sample is sent to a lab where gene expression profiling is performed on 142 specific genes using advanced molecular techniques.
4. Results are reported categorically as benign or suspicious based on an algorithm.

Duration

The fine needle aspiration (FNA) typically takes about 15-30 minutes. The entire visit may last up to an hour.

Setting

The procedure is usually performed in an outpatient clinic or hospital setting.

Personnel

• Endocrinologist or specialized healthcare provider.
• Trained nurse or medical assistant.
• Laboratory technicians for gene analysis.
• Cytopathologist for initial FNA assessment.

Risks and Complications

• Mild pain or bruising at the needle site.
• Rare risk of infection.
• Possible bleeding or hematoma formation.
• False-negative or false-positive results necessitating further evaluation.

Benefits

• Non-invasive and quick diagnostic tool.
• High accuracy in determining the nature of thyroid nodules.
• Helps avoid unnecessary surgeries.
• Results usually available in a few days to a week.

Recovery

• Minor discomfort or swelling at the needle site, typically resolving in a few days.
• Normal activities can usually be resumed immediately.
• Follow-up appointment to discuss results and next steps.

Alternatives

• Surgical biopsy: More invasive with risks of surgery but provides a definitive diagnosis.
• Observation and repeat imaging: Non-invasive but may delay definitive diagnosis.
• Molecular testing on a larger scale: More comprehensive but may not be necessary and is more costly.

Patient Experience

• Some discomfort during needle insertion, akin to a blood draw.
• Minimal pain and easy recovery.
• Instructions for managing any minor post-procedure discomfort (e.g., cold packs, over-the-counter pain relief).