The role of molecular biology in the diagnosis of lymphoid neoplasms

Abstract

In recent years, DNA-arrays, gene expression profiling and next-generation sequencing have elucidated the high complexity of genomic alterations occurring in lymphoid malignancies. These studies have also contributed to the identification of new diagnostic and prognostic biomarkers, which may represent possible targets for new therapeutic approaches. Such recent advances have significantly expanded the application of molecular tests to routine diagnostic hematopathology. It is thus conceivable that next-generation assays will soon flank traditional clonality tests and chromosomal translocation assays in the diagnostic work-up of difficult cases. This review is focused on the application of molecular biology techniques in the study of lymphoid tumors. Both conventional and next-generation tests will be addressed, with particular attention to their application to clinical practice.

Case Report: Activated B-cell-diffuse large B-cell lymphoma

“…It is most commonly seen in the sixth to seventh decade of life. 9 DLBCL is a diverse entity in terms of clinical presentation, genetic advances, therapeutic options, and prognosis. There was a significant advancement when gene expression profiling (GEP) was applied to further detect this variety and provide a rationale for categorizing patients in the study of DLBCL.…”

Inflammatory Cells in Diffuse Large B Cell Lymphoma

“…In 1969, the Rappaport classification system allowed to recognize DLBCL as diffuse histiocytic lymphoma [5]. As a consequence of the deepening of the immunological aspects related to the lymphomas, the development of new monoclonal antibodies and the implementation of molecular genetics are allowed to improve the acknowledgement of lymphomas, including DLBCL [6,7]. The high clinical and biological DLBCL heterogeneity is due to the concept that most of these lymphomas arise from germinal center B-cells at different stages of differentiation, in which recurrent genetic alterations contribute to the molecular pathogenesis of the disease [8].…”

Molecular Diagnostics in Pathology: Time for a Next-Generation Pathologist?

“…Notably, reflex testing by pathologists has previously been conducted in numerous pathologic fields (ie, thyroid nodules, lymphoproliferative disorders, and soft-tissue sarcomas, in particular) in which molecular information is an essential diagnostic tool. [33][34][35][36][37] For example, the assessment of BRAF status may play a central role in distinguishing the diagnosis of hairy cell leukemia from other B-cell lymphoproliferative neoplasms exhibiting similar clinical and morphological features. 38 The importance of the molecular survey in routine diagnosis is highlighted by the introduction of molecular profiling in the classification of many tumors (particularly in distinguishing different malignant central nervous system tumors).…”