The Classic Myeloproliferative Neoplasms

JAK2 V617F Background

October 2011

As background, the JAK2 V617F plays a very important diagnostic role in the evaluation of the myeloproliferative neoplasms. If the mutation is present, it certainly confirms the presence of a myeloid disorder and strongly favors a myeloproliferative neoplasm over a myelodysplastic syndrome diagnosis. However, a positive JAK2 V617F mutation does not help distinguish between the various myeloproliferative neoplasms. As you can see in the right-hand column, the JAK2 V617F mutation is present in over 95% of cases of PV, approximately half of PMFs and ETs, and only rare cases of myelodysplastic syndrome or chronic myelomonocytic leukemia.

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JAK2 V617F Background

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• Introduction
• Optimizing Laboratory Testing for Hematologic Disorders Series
• Goals for Today's Presentation
• Example of a Recent MPN Referral
• Why Do We Have Test Utilization Issues?
• Why Do We Have Test Utilization Issues?
• So What Should We Do?
• WHO Classification
• Important Laboratory Assays in the MPNs
• JAK2 V617F Background
• JAK2 V617F Background
• Question #1 — JAK2 V617F
• JAK2 V617F
• JAK2 V617F at Mayo Clinic
• Conclusion #1 — JAK2 V617F
• JAK2 Exon 12 Sequencing Background
• Question #2 — JAK2 Exon 12 Sequencing
• JAK2 Exon 12 Sequencing: When Not to Use
• JAK2 Exon 12 Sequencing
• Conclusion #2 — JAK2 Exon 12 Sequencing
• MPL Exon 10 Sequencing Studies: Background
• Question #3 — MPL Exon 10 Sequencing
• MPL Exon 10 Sequencing: When to Use
• MPL Exon 10 Sequencing: When Not to Use
• MPL Exon 10 Sequencing
• Conclusion #3 — MPL Exon 10 Sequencing
• Roles of Other Assays in Classic MPN
• Summary
• Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation
• Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
• Implementing a Utilization Approach
• Questions