San Diego June 27th is host to Dr. Tandon's workshop on contemporary genomic studies in hematologic pathology: Utility of next generation sequencing in clinical evaluation of myeloid and lymphoid malignancies.
Next generation sequencing (NGS) methodologies are emerging as an extremely valuable adjunct in the clinical diagnostic evaluation of hematologic cancers. Simultaneous assessment for prognostic and therapeutically predictive mutations across numerous disease relevant genes can be easily accommodated by clinical targeted NGS panels, facilitating significant reductions in labor, cost, and turnaround time for clinical reporting. Multiplex targeted NGS panels also eliminate reliance upon sequentially cascaded mutation testing algorithms often found to be highly complex and inefficient by ordering physicians. Thus, extended mutational profiling using NGS may show significant utility in the evaluation of acute myeloid leukemias and myeloproliferative neoplasms. Targeted NGS gene panels have also been reported to show potential, emerging significance in evaluation of myelodysplastic syndromes, one of the most common clinical indications for bone marrow biopsy. In the setting of acute leukemias and lymphoid malignancies, minimal residual disease (MRD) testing by NGS has also been reported to show significant improvements in sensitivity and specificity compared to the standard reference methodologies including flow cytometry and PCR. PCR Clonality assessment in lymphoid neoplasms is often subjective; subjectivity in data interpretation is minimized when using NGS for immune repertoire analysis. NGS has also been reported to show significant improvements in sensitivity in detection of clonal populations in T-cell neoplasms (e.g. mycosis fungoides, the most common cutaneous T-cell lymphoma, a frequent indication for TCR clonality testing by PCR on clinical FFPE samples). Lastly, Chronic Lymphocytic Leukemia / Small Lymphocytic Lymphoma (CLL/SLL) is the most common leukemia diagnosed among adults in Western countries and is associated with heterogeneous clinical outcomes. Somatic hypermutation status of the IGH gene is one of the most important prognostic biomarkers for risk stratification and guidance of therapy in this setting, and NGS confers significant practical and technical advantages over the current gold standard Sanger Sequencing based approach.
MPLN offers NGS myeloid panel and NGS IgVH Somatic hypermutation testing. NGS applications for immune repertoire analysis, B and T-cell clonality detection, and minimal residual disease testing are currently in development.
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