Evaluation of Immunophenotypic and Molecular Biomarkers for Sézary Syndrome Using Standard Operating Procedures: A Multicenter Study of 59 Patients.

Fiche publication


Date publication

juillet 2016

Journal

The Journal of investigative dermatology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BENSUSSAN Armand


Tous les auteurs :
Boonk SE, Zoutman WH, Marie-Cardine A, van der Fits L, Out-Luiting JJ, Mitchell TJ, Tosi I, Morris SL, Moriarty B, Booken N, Felcht M, Quaglino P, Ponti R, Barberio E, Ram-Wolff C, Jäntti K, Ranki A, Bernengo MG, Klemke CD, Bensussan A, Michel L, Whittaker S, Bagot M, Tensen CP, Willemze R, Vermeer MH

Résumé

Differentiation between Sézary syndrome and erythrodermic inflammatory dermatoses can be challenging, and a number of studies have attempted to identify characteristic immunophenotypic changes and molecular biomarkers in Sézary cells that could be useful as additional diagnostic criteria. In this European multicenter study, the sensitivity and specificity of these immunophenotypic and recently proposed but unconfirmed molecular biomarkers in Sézary syndrome were investigated. Peripheral blood CD4(+) T cells from 59 patients with Sézary syndrome and 19 patients with erythrodermic inflammatory dermatoses were analyzed for cell surface proteins by flow cytometry and for copy number alterations and differential gene expression using custom-made quantitative PCR plates. Experiments were performed in duplicate in two independent centers using standard operating procedures with almost identical results. Sézary cells showed MYC gain (40%) and MNT loss (66%); up-regulation of DNM3 (75%), TWIST1 (69%), EPHA4 (66%), and PLS3 (66%); and down-regulation of STAT4 (91%). Loss of CD26 (≥80% CD4(+) T cells) and/or CD7 (≥40% CD4(+) T cells) and combination of altered expression of STAT4, TWIST1, and DNM3 or PLS3 could distinguish, respectively, 83% and 98% of patients with Sézary syndrome from patients with erythrodermic inflammatory dermatoses with 100% specificity. These additional diagnostic panels will be useful adjuncts in the differential diagnosis of Sézary syndrome versus erythrodermic inflammatory dermatoses.

Mots clés

Adult, Aged, Aged, 80 and over, Biomarkers, analysis, CD4-Positive T-Lymphocytes, cytology, Diagnosis, Differential, Europe, Female, Flow Cytometry, Gene Dosage, Gene Expression Profiling, Gene Expression Regulation, Humans, Immunophenotyping, standards, Inflammation, Male, Middle Aged, Polymerase Chain Reaction, Reproducibility of Results, Sensitivity and Specificity, Sezary Syndrome, diagnosis, Skin Diseases, diagnosis

Référence

J Invest Dermatol. 2016 07;136(7):1364-1372