Name of the Procedure:

Oncology (thyroid), mRNA Gene Expression Analysis of 593 Genes for Sequence Variants and Rearrangements (including BRAF, RAS, RET, PAX8, and NTRK) using Fine Needle Aspirate.

Summary

This procedure involves analyzing the genetic makeup of thyroid cells to detect sequence variants and rearrangements in 593 genes. A fine needle is used to draw a small sample from the thyroid gland, which is then examined for genetic changes that could indicate cancer.

Purpose

The goal of this procedure is to detect specific gene mutations and rearrangements that are associated with thyroid cancer. By identifying these genetic changes, doctors can better understand the nature of the thyroid tumor, plan appropriate treatments, and predict outcomes.

Indications

• Suspicious thyroid nodules based on ultrasound
• Indeterminate results from initial cytology tests
• Family history of thyroid cancer
• Rapid growth or other concerning features of thyroid nodules

Preparation

• No fasting is required
• Inform the doctor of any medications you are taking
• Blood tests or thyroid function tests may be conducted beforehand

Procedure Description

1. The patient lies on an exam table with their neck slightly extended.
2. The area of the thyroid nodule is cleaned and sterilized.
3. Using ultrasound guidance, a fine needle is inserted into the thyroid nodule.
4. A small sample of cells is extracted.
5. The sample is sent to a lab where it undergoes mRNA gene expression analysis to check for sequence variants and rearrangements in 593 genes.

No anesthesia or sedation is typically required, though a local anesthetic may be used to minimize discomfort.

Duration

The procedure itself typically takes around 15-30 minutes.

Setting

This procedure is usually performed in an outpatient clinic or a hospital's radiology department.

Personnel

• Endocrinologist or radiologist
• Ultrasound technician
• Laboratory personnel for subsequent gene analysis

Risks and Complications

• Minor bleeding or bruising at the needle site
• Infection, though very rare
• Discomfort or pain during the procedure
• False-negative/positive results requiring additional testing

Benefits

• Accurate identification of genetic mutations linked to thyroid cancer
• Tailored treatment plans based on genetic findings
• Early detection of potentially aggressive cancers

Benefits are typically realized shortly after analysis, providing critical information for treatment planning.

Recovery

• Minimal recovery time; patients can often resume normal activities immediately
• Keep the needle site clean and dry
• Follow-up appointment to discuss results with your doctor

Alternatives

• Traditional biopsy with larger needle
• Watchful waiting with regular ultrasound follow-up
• Molecular testing on pre-existing biopsy samples

Each alternative has its pros and cons, such as differing levels of precision and invasiveness compared to the fine needle aspirate method.

Patient Experience

Patients may feel a quick pinch or mild discomfort during the needle insertion. Most feel minimal pain afterward but may experience slight tenderness at the needle site, which typically resolves within a day or two. Comfort measures like a cold pack can help manage any discomfort post-procedure.