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J Invest Dermatol. 2016 Jul;136(7):1364-1372. doi: 10.1016/j.jid.2016.01.038. Epub 2016 Feb 28.

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

Author information

1
Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: s.e.boonk@lumc.nl.
2
Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
3
INSERM U976, Hospital Saint-Louis, Paris, France; Paris Diderot University, Hospital Saint-Louis, Paris, France.
4
St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
5
Clinical Oncology, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
6
Department of Dermatology, Venereology and Allergy, University Medical Center Mannheim, Ruprecht-Karls-University of Heidelberg, Mannheim, Germany.
7
Department of Medical Sciences, Dermatologic Clinic, Turin University, Turin, Italy.
8
INSERM U976, Hospital Saint-Louis, Paris, France; Paris Diderot University, Hospital Saint-Louis, Paris, France; Department of Dermatology, Hospital Saint-Louis, Paris, France.
9
Department of Dermatology and Allergology, University of Helsinki and Skin and Allergy Hospital, Helsinki University Central Hospital, Helsinki, Finland.

Abstract

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.

PMID:
26930587
DOI:
10.1016/j.jid.2016.01.038
[Indexed for MEDLINE]
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