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Myeloproliferative neoplasms (MPNs) are a group of myeloid malignancies marked by the overproduction of mature myeloid cells. Historically, laboratories have relied on sequential single-gene testing (SGT) to assess somatic mutations in the primary driver genes—JAK2, MPL, and CALR—and only proceed to next-generation sequencing (NGS) when no mutations are detected. As the number of clinically relevant biomarkers continues to grow, this stepwise approach is becoming increasingly inefficient.
In this webinar, Dr. Krishnamurthy shares her experience using an amplicon-based myeloid NGS panel for genomic profiling of MPNs. This approach enables simultaneous assessment of key driver genes—including JAK2, MPL, CALR, and CSF3R—as well as additional MPN-associated gene mutations with important prognostic relevance.
Dr. Krishnamurthy compares the myeloid NGS panel with traditional PCR-based sequential SGT, highlighting the benefits of NGS in improving diagnostic accuracy and prognostic evaluation. She also highlights the utility of a diagnostic approach that integrates both NGS and PCR in cases of low variant allele frequency in driver genes (e.g., VAF <2%).
Kritika Krishnamurthy, MD
Assistant Professor, Pathology, Montefiore Medical Center
Albert Einstein College of Medicine
Dr. Krishnamurthy is an attending surgical pathologist, hematopathologist, and molecular pathologist at Montefiore Medical Center, Bronx, NY, and an assistant professor of pathology at Albert Einstein College of Medicine. She also holds the position of associate director for Molecular Genetic Pathology and Cytogenetics Lab, and associate program director for Molecular Genetic Pathology and Laboratory Genetics and Genomics Fellowships at Montefiore Medical Center.
PMR-002895