Although genomics has heavily influenced the diagnosis and clinical management of hematologic malignancies, histology still plays an essential role in diagnostic criteria for leukemias, myelodysplastic syndromes, myeloproliferative neoplasms, and lymphomas. These diseases are remarkably heterogeneous, and new diagnostic categories have emerged as understanding of the biologic properties and response to therapy of these diseases has evolved. In lymphomas like Diffuse Large B-cell lymphoma (DLBCL), immunohistochemical scoring of CMYC and BCL2 expression can complement gene expression based subtyping to identify patients with poor prognosis.
Computational methods can play an important role in both subtype discovery and in reproducible diagnosis. Integrating genomics and quantitative histologic measurements can be a powerful tool for exploring new diagnostic criteria that better explain biology and clinical outcomes. As criteria grow more complex, the use of quantitative measurements can help pathologists apply these criteria correctly and consistently so that patients can realize the benefits. Significant opportunities also exist for precursor lesions like myelodysplastic syndrome, where better methods can help decide between watchful waiting and intervention.
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