Name of the Procedure:

Oncology (Medullary Thyroid Carcinoma), mRNA Gene Expression Analysis of 108 Genes, Fine Needle Aspirate, Algorithm Reported as Positive or Negative for Medullary Thyroid Carcinoma

Summary

This procedure involves using a fine needle to collect a tissue sample from the thyroid gland, which is then analyzed for the gene expression of 108 specific genes to determine the presence of medullary thyroid carcinoma (MTC). The results are reported as either positive or negative for MTC.

Purpose

This procedure is designed to diagnose medullary thyroid carcinoma, a type of thyroid cancer. By analyzing mRNA gene expression, doctors can identify the presence of cancerous cells and confirm the diagnosis.

Indications

• Symptoms suggesting thyroid issues, such as lumps or swelling in the neck.
• Persistent hoarseness, difficulty breathing or swallowing.
• Previous inconclusive tests indicating potential thyroid abnormalities.
• Family history of medullary thyroid carcinoma.

Preparation

• No special fasting or medications adjustments needed.
• Inform your healthcare provider about any medications or allergies.
• Routine blood tests or imaging studies of the thyroid may be performed beforehand for additional information.

Procedure Description

1. The area around the thyroid is sterilized.
2. A fine needle is inserted into the thyroid nodule or gland to extract cells.
3. The collected sample is then sent to a lab for mRNA gene expression analysis of 108 genes.
4. Advanced algorithms analyze the gene expression to provide a result indicating the presence or absence of medullary thyroid carcinoma.

Tools & Equipment:

• Fine needle
• Sterile dressing
• Gene expression analysis kit and software

Anesthesia or Sedation:

• Local anesthesia is applied to numb the area, if necessary.

Duration

The biopsy procedure typically takes about 20-30 minutes. Lab results may take several days to a week.

Setting

The procedure is performed in a hospital, outpatient clinic, or a specialized diagnostic center.

Personnel

• Endocrinologist/Oncologist
• Radiologist or specialized technician for guidance
• Pathologist for gene expression analysis
• Nursing staff for support and preparation

Risks and Complications

• Mild pain or discomfort at the biopsy site
• Bruising or swelling
• Bleeding or infection (rare)
• Potential false-positive or false-negative results

Benefits

• Accurate diagnosis of medullary thyroid carcinoma
• Early detection leads to earlier treatment and better outcomes
• Non-invasive and relatively quick procedure

Recovery

• Mild soreness at the biopsy site, managed with over-the-counter pain relievers.
• Avoid heavy lifting or strenuous activities for 24 hours.
• Follow-up appointment to discuss results and next steps in treatment.

Alternatives

• Conventional biopsy with a larger needle
• Ultrasound-guided biopsy
• Blood tests for calcitonin and carcinoembryonic antigen (CEA) levels
• Imaging studies like CT or MRI scans
• Each alternative has different pros and cons regarding accuracy, invasiveness, and patient comfort.

Patient Experience

Patients generally experience minor discomfort or pressure during the fine needle aspiration and mild soreness afterward. Pain management includes local anesthetics or over-the-counter pain medications to ensure patient comfort.