Name of the Procedure:

Genotyping of Internal Tandem Duplication (ITD), p.D835, and p.I836 mutations in FLT3 via DNA analysis using mononuclear cells for Acute Myelogenous Leukemia (AML). Commonly reported as the detection or non-detection of the FLT3 mutation and indication for or against the use of midostaurin.

Summary

This procedure involves DNA testing to identify specific genetic mutations associated with Acute Myelogenous Leukemia (AML). The focus is on detecting FLT3 mutations from mononuclear cells, which helps determine whether the patient should be treated with the drug midostaurin.

Purpose

This genetic test addresses Acute Myelogenous Leukemia (AML), a type of cancer affecting the blood and bone marrow. The primary goal is to detect FLT3 mutations (specifically Internal Tandem Duplication and mutations at positions p.D835 and p.I836) to guide the use of targeted therapy, such as midostaurin, improving treatment outcomes.

Indications

• Confirmed diagnosis of Acute Myelogenous Leukemia (AML).
• Evaluation before starting targeted therapy.
• Patients exhibiting symptoms such as fatigue, infections, or abnormal blood counts warranting differential diagnosis and precise treatment planning.

Preparation

• No specific preparation like fasting required.
• Blood sample collection for mononuclear cells.
• Ensure the patient’s consent and understanding of the genetic test.

Procedure Description

1. Blood sample or bone marrow aspirate is collected.
2. Mononuclear cells are isolated from the sample.
3. DNA extraction is performed on the isolated cells.
4. Polymerase Chain Reaction (PCR) and sequencing techniques are used to identify the presence of ITD and FLT3 mutations at p.D835 and p.I836.
5. Results are reported as either detection or non-detection of the FLT3 mutation.
6. Based on the results, recommendations regarding the use of midostaurin are provided.

Duration

The procedure from sample collection to result reporting typically takes about 1-2 weeks.

Setting

Performed in a specialized genetic laboratory equipped for molecular diagnostics.

Personnel

• Hematologists or oncologists for the clinical evaluation and sample collection.
• Laboratory technicians and molecular biologists for DNA analysis.
• Pathologists for result interpretation.

Risks and Complications

• Minimal risks associated with blood sample collection (e.g., bruising or infection).
• Very rare possibility of sample contamination affecting results.
• No significant complications from the DNA testing itself.

Benefits

• Identification of FLT3 mutations provides valuable information for personalized treatment plans.
• Increased likelihood of effective treatment with midostaurin if FLT3 mutation is detected.
• Faster therapeutic decisions and tailored approaches improve treatment outcomes.

Recovery

• No recovery period required for the genetic test.
• Normal activities can be resumed immediately after sample collection.

Alternatives

• Standard chemotherapy without genetic testing.
• Other molecular tests for AML mutations.
• Pros: Routine treatments may be less costly.
• Cons: Less targeted approach may reduce treatment effectiveness.

Patient Experience

• Minimal discomfort from the blood draw.
• No pain or discomfort from the laboratory analysis itself.
• Follow-up consultation with healthcare provider to discuss test results and treatment plans.

Pain management is typically not necessary, but patient comfort is prioritized during sample collection.