Name of the Procedure:

Targeted Genomic Sequence Analysis Panel, Solid Organ Neoplasm, DNA Analysis, and RNA Analysis (when performed), 5-50 genes (e.g., ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, NRAS, MET, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), Interrogation for Sequence Variants

Summary

This procedure involves analyzing the DNA and sometimes RNA of a solid organ tumor to detect changes (mutations) in specific genes. These changes can provide important information about the type of cancer and the best treatment options.

Purpose

The main purpose is to identify genetic mutations in cancer cells, which can help in diagnosing the type of cancer, predicting its behavior, and selecting targeted therapies that are more likely to be effective.

Indications

• Patients diagnosed with solid organ tumors.
• Situations where genetic information can guide treatment decisions.
• Cases where previous treatments have failed, and more detailed genetic information is needed.

Preparation

• Patients may not need significant preparation, but they should follow any specific instructions provided by their healthcare team.
• Prior diagnostic tests such as biopsies to obtain tissue samples may be required.
• No fasting or special medication adjustments are typically necessary unless specified by the doctor.

Procedure Description

1. A tissue sample from the tumor is collected (usually already done via biopsy).
2. The sample is processed in a laboratory where DNA and potentially RNA are extracted.
3. Advanced sequencing technologies are used to analyze selected genes (5-50).
4. The data is interpreted to identify genetic mutations.
5. Results are compiled into a report that guides treatment planning.

Tools/Technology:

• Next-generation sequencing platforms.
• Bioinformatics software for data analysis.

Anesthesia/Sedation:

• Not applicable to the sequencing process itself, but initial biopsy procedures may require local or general anesthesia.

Duration

The entire laboratory analysis process can take anywhere from a few days to a couple of weeks.

Setting

• The analysis is conducted in specialized clinical laboratories.

Personnel

• Molecular geneticists
• Pathologists
• Laboratory technicians
• Oncologists (for result interpretation)

Risks and Complications

• As this is a laboratory test, there are no direct physical risks to the patient.
• Possible complications are related to the initial biopsy (e.g., infection, bleeding).

Benefits

• Identifies specific mutations which can lead to more effective, targeted treatments.
• Helps in determining prognosis and potential treatment resistance.
• Results can lead to personalized cancer therapy plans.

Recovery

• No recovery time required from the sequencing analysis itself.
• Recovery is pertinent to the biopsy procedure, if relevant.

Alternatives

• Broad-based genomic profiling.
• Individual gene testing.
• Standard chemotherapy without genetic testing.
  • Pros: More comprehensive genetic information or simpler treatment plans.
  • Cons: Could be more expensive, less precise efficacy in treatment selection.

Patient Experience

• The patient will most often not be directly involved during the sequencing process itself.
• The main patient experience relates to the initial tissue sample collection (biopsy).
• Post-procedure, patients wait for their healthcare provider to discuss the results and next steps in treatment.

The procedure is a critical step towards personalized cancer care, offering significant potential benefits for targeted therapy selections.