Oncomine (CMML) chronic myelomonocytic Leukemia panel

1. Product Overview:

The Oncomine CMML (Chronic Myelomonocytic Leukemia) panel is an advanced genetic diagnostic test designed to provide a comprehensive molecular analysis for patients suspected of having CMML, a type of leukemia. This test identifies genetic mutations commonly associated with CMML, allowing healthcare professionals to make informed decisions for personalized treatment strategies. The Oncomine CMML panel is highly beneficial for patients in Dubai, UAE, helping to enhance diagnostic accuracy and treatment efficacy.

2. Purpose / Clinical Significance:

• Diagnosis and Prognosis: The Oncomine CMML panel helps in the detection of genetic mutations linked to CMML, offering insights into the specific subtype of leukemia affecting the patient. Early and accurate detection can significantly impact treatment outcomes and the prognosis of CMML patients.

• Personalized Treatment: Genetic profiling through the Oncomine panel allows for a tailored therapeutic approach, optimizing treatment regimens based on the patient's molecular profile. This can enhance the effectiveness of targeted therapies.

• Monitoring Disease Progression: By regularly conducting Oncomine CMML tests, clinicians can track the progression of CMML, adjust treatments accordingly, and monitor for potential relapse.

3. Principle:

The Oncomine CMML panel employs cutting-edge next-generation sequencing (NGS) technology to analyze multiple genes involved in CMML. By sequencing DNA from a patient’s blood or bone marrow sample, the test identifies mutations in key genes that contribute to the pathogenesis of leukemia. These findings are then compared with a comprehensive genetic database, providing precise results regarding mutations, amplifications, and deletions that can affect treatment decisions.

4. Specimen Requirements:

• Sample Type: Peripheral blood or bone marrow aspirate.

• Volume: Approximately 3-5 mL of blood or bone marrow.

• Collection Guidelines: The sample should be collected in a sterile, EDTA (purple top) tube to preserve DNA integrity. It is essential to transport the specimen promptly to the testing laboratory for optimal results.

5. Common Methods:

• Next-Generation Sequencing (NGS): This method is the cornerstone of the Oncomine CMML panel, allowing for high-throughput genetic sequencing of multiple genes simultaneously, providing a thorough analysis of CMML-related mutations.

• DNA Extraction: The DNA is extracted from the collected blood or bone marrow sample, ensuring that only high-quality genetic material is used for sequencing.

• Bioinformatics Analysis: Advanced algorithms are used to analyze the sequencing data, identifying any genetic mutations or abnormalities present in the sample. This information is then interpreted by clinical specialists for actionable insights.

6. Interpretation of Results:

• Mutation Detection: Results will indicate the presence or absence of specific mutations in genes commonly associated with CMML, such as TET2, SRSF2, ASXL1, and others.

• Mutational Burden: The test can quantify the number and type of mutations, aiding in assessing the severity and prognosis of the disease.

• Therapeutic Implications: If actionable mutations are detected, targeted therapies or clinical trials may be considered as part of the treatment plan.

7. Reference Range:

• The reference range for the Oncomine CMML panel is typically based on the absence of pathogenic mutations in the specific genes tested. However, the interpretation of results depends on the context of clinical findings and the patient's overall health. A comprehensive evaluation by a hematologist or oncologist is essential for accurate diagnosis and treatment planning.

8. Limitations:

• False Negative Results: While the Oncomine CMML panel is highly accurate, rare genetic mutations might not be detected if they are outside the scope of the test.

• Sample Quality: The quality of the blood or bone marrow sample is crucial for accurate results. Poor quality samples may affect sequencing accuracy.

• Somatic Mutations: The panel may not detect all somatic mutations that could influence CMML progression or response to therapy, especially if mutations occur in low-frequency clones.

9. Follow-up Testing:

• Further Genetic Profiling: In cases where the Oncomine CMML panel identifies mutations, further testing may be required to refine the treatment approach or to assess the presence of mutations in other regions of the genome.

• Minimal Residual Disease Testing: Post-treatment monitoring using additional molecular techniques like MRD (Minimal Residual Disease) testing can be performed to assess the presence of any remaining leukemia cells.

10. Conclusion:

The Oncomine CMML chronic myelomonocytic leukemia panel offers a state-of-the-art molecular diagnostic solution for CMML, enabling precise genetic analysis and personalized treatment for patients in Dubai and the UAE. By identifying genetic mutations associated with CMML, this test helps in the early detection, monitoring, and effective management of this complex leukemia subtype. The Oncomine panel empowers clinicians with the tools they need to provide the best possible care, leading to improved outcomes for CMML patients.