Name of the Procedure:

IDH1 (Isocitrate Dehydrogenase 1 [NADP+], Soluble) Mutation Analysis, Common Variants (e.g., R132H, R132C)

Summary

This procedure involves analyzing the IDH1 gene for specific mutations in tumor tissue, primarily used to diagnose and manage certain types of brain tumors, such as gliomas. It identifies common variants like R132H and R132C mutations.

Purpose

The procedure is designed to detect mutations in the IDH1 gene, which are often present in certain types of brain tumors, including gliomas. Identifying these mutations helps in diagnosing the tumor, determining prognosis, and guiding treatment decisions.

Indications

This test is typically indicated for patients with:

• Newly diagnosed gliomas
• Tumors suspected to be glioma based on imaging studies
• Need for extensive tumor characterization to guide treatment

Preparation

• No special preparation like fasting is required.
• A biopsy or surgical sample of the tumor tissue is needed.
• Previous medical history and imaging studies should be reviewed.

Procedure Description

1. Tumor tissue is obtained through a biopsy or surgery.
2. The sample is processed in a laboratory to extract DNA.
3. Molecular techniques, such as PCR (Polymerase Chain Reaction) and sequencing, are used to identify any mutations in the IDH1 gene, focusing on common variants like R132H and R132C.

Duration

• The tissue sampling procedure's duration varies (biopsy can take about 30-60 minutes).
• Laboratory analysis of the sample takes several days.

Setting

• The initial tumor tissue collection is performed in a hospital or outpatient surgical center.
• Genetic analysis is conducted in a specialized molecular pathology lab.

Personnel

• Neurosurgeons or interventional radiologists for tumor biopsy.
• Pathologists and molecular biologists for genetic testing.
• Oncology team for reviewing results and planning treatment.

Risks and Complications

• Risks are generally associated with the tissue sampling part, including infection, bleeding, or damage to surrounding tissues.
• Laboratory analysis presents minimal risk to the patient.

Benefits

• Provides crucial diagnostic information.
• Helps in assessing the prognosis of the tumor.
• Guides personalized treatment decisions, potentially improving outcomes.

Recovery

• Recovery is related to the biopsy or surgical procedure used to obtain the tissue.
• Instructions typically include wound care, activity restrictions, and follow-up appointments.

Alternatives

• Imaging studies (MRI, CT) for initial tumor characterization.
• Other molecular tests like sequencing of other genes involved in gliomas.
• Non-invasive blood-based biomarkers (still under research).

Patient Experience

• Discomfort or pain might be minimal during the tissue sampling procedure due to sedation or anesthesia.
• Patients may experience anxiety while awaiting test results.
• Post-procedure care focuses on managing biopsy site pain and any complications.