Name of the Procedure:

Oncology (thyroid), DNA and mRNA of 112 genes, next-generation sequencing (NGS), fine needle aspirate of thyroid nodule, algorithmic analysis reported as a categorical result (Positive, high probability of malignancy or Negative, low probability of malignancy).

Summary

This procedure involves using next-generation sequencing (NGS) technology to analyze DNA and mRNA from a thyroid nodule sample obtained through fine needle aspiration (FNA). The results are processed through an algorithm to identify the likelihood of malignancy.

Purpose

The procedure is designed to evaluate thyroid nodules for potential malignancy. Its goal is to provide a categorical result that helps in diagnosing cancer, allowing for more informed treatment decisions.

Indications

• Presence of thyroid nodules detected through physical examination or imaging.
• Nodules with suspicious features on ultrasound.
• Indeterminate cytology results from a prior fine needle aspiration.
• Patients with a history of thyroid cancer or increased risk factors for thyroid malignancy.

Preparation

• No special preparation is generally required.
• Patients should inform the healthcare provider about any medications they are taking, particularly blood thinners.
• Diagnostic imaging (e.g., ultrasound) typically precedes the FNA to locate the nodule accurately.

Procedure Description

1. The patient lies in a supine position with the neck extended.
2. The area over the thyroid is cleansed and, if needed, numbed with a local anesthetic. Sedation is rarely required.
3. Using ultrasound guidance, a thin needle is inserted into the thyroid nodule to obtain tissue samples.
4. These samples are then sent to a specialized laboratory where DNA and mRNA of 112 genes are analyzed using next-generation sequencing (NGS) technology.
5. An algorithm evaluates the sequencing data, categorizing the result as either Positive (high probability of malignancy) or Negative (low probability of malignancy).

Duration

The FNA procedure itself typically takes around 20-30 minutes, while the NGS analysis can take several days to a few weeks to be completed.

Setting

The procedure is generally performed in an outpatient clinic, a hospital, or a specialized endocrine center.

Personnel

An endocrinologist or a radiologist usually performs the fine needle aspiration. The DNA and mRNA analysis is conducted by highly trained laboratory technicians and molecular pathologists.

Risks and Complications

• Minor bleeding or bruising at the aspiration site
• Infection, although rare
• Potential discomfort or pain during the procedure
• Very low risk of injury to adjacent structures such as the trachea or nerves
• False-positive or false-negative results requiring further investigation

Benefits

• Provides a clear diagnostic path with high specificity and sensitivity for malignancy.
• Non-invasive and generally well-tolerated.
• Helps in making informed decisions about the need for surgical intervention or other treatments.

Recovery

• Patients can usually resume normal activities immediately after the procedure.
• Mild pain or discomfort at the site may be managed with over-the-counter pain relievers.
• Follow-up appointments may be scheduled to discuss the results and further steps.

Alternatives

• Traditional fine needle aspiration cytology alone, without genetic analysis.
• Core needle biopsy which may provide a larger tissue sample.
• Watchful waiting with regular ultrasound monitoring.
• Surgery for definitive diagnosis, typically reserved for highly suspicious or confirmed malignant nodules.

Patient Experience

During the FNA procedure, patients may feel a slight pinch and some pressure. Afterward, the aspiration site might be sore, but this discomfort is usually minimal and temporary. The wait for genetic analysis results can cause some anxiety, but the clarity provided by the results can significantly alleviate uncertainties regarding thyroid nodule management.