The Classic Myeloproliferative Neoplasms

JAK2 V617F at Mayo Clinic

October 2011

Those negative discrepant cases all had very low mutation burdens just below the normal cutoff value and, conversely, the positive discrepant cases had a very low level of positivity just above the normal cutoff value, so basically all had very similar results. The bone marrow diagnoses in these 4 discrepant cases included 1 case of a myelodysplastic/myeloproliferative disorder that was unclassified and 3 cases in which the bone marrow showed no features of myeloid malignancy. Our findings confirmed that either a low-level positive or negative JAK2 result had no impact on the clinical management or outcome of these 4 patients.

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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