Diagnostic Value of Genotypic Analysis in Primary Cutaneous Lymphomas using Standardized BIOMED-2 Polymerase Chain Reaction Protocols: Experience in Daily Clinical Practice
Daniel López Aventín, Fernando Gallardo, Luis Colomo, Ester Moragón, María Carmen Vela, Xavier Duran Jordà, Beatriz Bellosillo, Ramon M. Pujol
DOI: 10.2340/00015555-3828
Abstract
BIOMED-2 Concerted Action BMH4-CT98-3936 (BIOMED-2) PCR protocols are an important diagnostic tool in the evaluation of cutaneous lymphomas. The aim of this study was to assess the diagnostic value of the genotyping results obtained by these techniques in daily clinical practice. A total of 360 paraffin-embedded skin samples were retrospectively reviewed from 114 cutaneous T-cell lymphomas and 35 cutaneous B-cell lymphomas. A total of 249 biopsies from 180 patients with benign lymphoid infiltrates served as controls. T-cell receptor and immunoglobulin gene rearrangements were assessed using the BIOMED-2 method. A combined T-cell receptor gamma and beta assay approach reliably distinguished cutaneous T-cell lymphomas from benign skin T-cell infiltrates (sensitivity 89.4%; specificity 81.5%). Analysis of complete immunoglobulin heavy chain rearrangements also differentiated cutaneous B-cell lymphomas from benign B-cell infiltrates (sensitivity 85.7%; specificity 82.4%). In conclusion, the full BIOMED-2 protocol is a useful aid combined with clinical, histological and immunophenotypical findings for assessment of lymphoid clonality in skin lymphoid proliferations.
Significance
Diagnosis of cutaneous lymphomas is often challenging due to its clinical, histopathological and immunophenotypical overlap with a broad spectrum of benign lymphoid infiltrates. Clonality evaluation using the BIOMED-2 Concerted Action BMH4-CT98-3936 (BIOMED-2) method has been useful in certain cases. However, the relevance of the different clonality assays, performed individually or combined, in benign and malignant skin lymphoid proliferations in real-life clinical practice has scarcely been explored. This study found that combined T-cell receptor gamma and beta analysis increased clonal detection sensitivity in cutaneous T-cell lymphomas. Conversely, additional assays to the routine complete immunoglobulin heavy chain assessment were helpful in selected controversial B-cell infiltrates.
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