Primary mediastinal large B-cell lymphoma (PMBCL) is a rare disease, accounting for 2~-3% of all non-Hodgkin lymphomas (NHL). Based on its clinical and pathological features, it is recognized as a distinct entity by the current World Health Organization Classification. Historically, PMBCL was considered as a subtype of DLBCL based on morphology and immunophenotype. The typical clinical presentation as a large mass in the anterior mediastinum of children/youth with female predominance is a critical diagnostic component in PMBCL. However, variations observed in clinical features and histopathology have made accurate diagnosis of this disease challenging. To address this issue, our research team at the BC Cancer Centre for Lymphoid Cancer (CLC) has developed a robust clinical classification assay, Lymph3Cx, which accurately distinguishes PMBCL from DLBCL subtypes based on gene expression of 58 genes using routinely produced formalin-fixed paraffin-embedded biopsies (Mottok et al., Blood, 2018). Currently, we are collaborating with North American clinical trials groups to further validate the clinical utility of this assay for routine diagnostic purposes.
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