Name of the Procedure:

NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1) Translocation Analysis

Summary

NTRK1 translocation analysis is a genetic test used to detect rearrangements in the NTRK1 gene, which can be involved in the development of certain types of solid tumors. This analysis helps in identifying specific gene fusions that may be targeted by selective cancer therapies.

Purpose

NTRK1 translocation analysis is designed to identify genetic changes in tumors that help guide targeted cancer treatments. The test focuses on finding alterations within the NTRK1 gene that may indicate the presence of a treatable form of cancer.

Indications

The procedure is indicated for patients with solid tumors who have not responded to standard treatments or when a specific therapeutic target is being sought. It is particularly relevant for tumors where other genetic mutations have been ruled out, and a precision medicine approach is needed.

Preparation

Patients generally do not need to undertake special preparations for this test. However, they might be instructed to discuss their medical history and any medications they are taking. Tissue samples often come from a biopsy, which may require fasting or medication adjustments based on the biopsy type.

Procedure Description

1. Sample Collection: Tissue is obtained via biopsy from the tumor.
2. DNA/RNA Extraction: Genetic material is isolated from the tissue sample.
3. Analysis: The sample undergoes sequencing to identify translocations involving the NTRK1 gene.
4. Interpretation: Specialists analyze the sequencing results to detect any gene rearrangements.

Advanced genetic testing technologies like next-generation sequencing are commonly used. The procedure usually does not involve anesthesia, except if a biopsy is required.

Duration

The genetic analysis itself takes a few days to weeks, depending on the lab's workload and the complexity of the tests. Sample collection might take anywhere from a few minutes to an hour.

Setting

The tissue collection typically occurs in a hospital or outpatient clinic, while the genetic analysis is conducted in a specialized laboratory.

Personnel

• Oncologists: Oversee the process and interpret results.
• Pathologists: Handle tissue samples and initial examination.
• Laboratory Technicians/Geneticists: Perform the genetic analysis.

Risks and Complications

Generally, the analysis itself has no direct risks. However, tissue biopsy may carry risks such as bleeding, infection, or pain at the site of sample collection. Rare genetic misinterpretations might lead to incorrect treatment paths.

Benefits

Identifying NTRK1 gene translocations can significantly enhance treatment by enabling targeted therapy, which may be more effective and have fewer side effects compared to standard treatments. Results might be realized in a few weeks, enabling timely treatment adjustments.

Recovery

Post-biopsy care varies depending on the biopsy type. Simple biopsies may require minimal care, while more invasive ones might need bandaging, monitoring for infection, and pain management. Generally, there are no significant restrictions after the biopsy heals.

Alternatives

• Broad Genetic Panel Testing: To look for other genetic mutations.
• Imaging Studies: To assess tumor characteristics without genetic details.
• Non-targeted Treatments: Standard chemotherapy and radiation. Each alternative has its benefits and limitations. Broad panel tests can provide comprehensive genetic insights, while standard treatments may be less effective but are universally applicable without specific genetic information.

Patient Experience

During the initial tissue collection, patients may feel discomfort or pain, managed by local anesthesia if required. Anxiety related to waiting for genetic analysis results is common. After the procedure, patients are usually relieved to know their cancer treatment can be more precisely directed. Pain management, if necessary, will be addressed appropriately by the healthcare team.