Scala Enrico, Abeni Damiano, Pomponi Debora, Russo Nicoletta, Russo Giandomenico, Narducci Maria Grazia
Experimental Allergy Unit, IDI-IRCCS, Via dei Monti di Creta 104, 00167, Rome, Italy,
Arch Dermatol Res. 2015 Aug;307(6):487-93. doi: 10.1007/s00403-015-1548-0. Epub 2015 Mar 4.
Sézary Syndrome (SS/L-CTCL) is a rare but aggressive variant of cutaneous T cell lymphoma (CTCL), characterized by erythroderma, lymphadenopathy, and the presence of a circulating memory CD4(+) T cell malignant clone with a skin homing behavior, lacking CD26 and CD49d and over-expressing CD60. The availability of a panel of monoclonal antibodies recognizing distinct TCR-Vβ families, allows to typify the clone by flow cytometry in about 70 % of cases. The TCR-Vβ repertoire of 533 individuals, comprising 308 patients affected by CTCL, 50 healthy donors, and subjects affected by various non-neoplastic dermatological affections was evaluated by flow cytometry. Statistical analyses were performed using the SPSS statistical software package for Microsoft Windows (SPSS, version 21, Chicago, IL). TCR-Vβ2 levels below 5.4 % or above 39.5 %, within total CD4(+) T cells, showed the best balance between sensitivity (98.1 %) and specificity (96 %) to identify the presence of a clone in the peripheral blood of patients affected by SS. Based on this observation, a "two-step" procedure in the detection of the malignant T cell clone in CTCLs is herein suggested. TCR-Vβ2 assessment in all cases (first step). In the case of TCR-Vβ2 levels above 39.5 %, the presence of a clonal expansion of this family is suggested, deserving further confirmation by means of T cell gene rearrangement evaluation. In patients having a TCR-Vβ2 reactivity below 5.4 % (second step), the entire TCR-Vβ repertoire should be evaluated to typify the expanded clone. In conclusion, the single TCR-Vβ2 expression check, instead of the entire repertoire assessment, represents an easy and cost-effective method for the recognition of CTCL aggressive leukemic variant.
蕈样肉芽肿综合征（SS/L-CTCL）是皮肤T细胞淋巴瘤（CTCL）的一种罕见但侵袭性变体，其特征为红皮病、淋巴结病，以及存在具有皮肤归巢行为、缺乏CD26和CD49d并过度表达CD60的循环记忆性CD4(+)T细胞恶性克隆。一组识别不同TCR-Vβ家族的单克隆抗体的可用性，使得约70%的病例能够通过流式细胞术对克隆进行分型。通过流式细胞术评估了533名个体的TCR-Vβ库，其中包括308名受CTCL影响的患者、50名健康供体以及受各种非肿瘤性皮肤病影响的受试者。使用适用于Microsoft Windows的SPSS统计软件包（SPSS，版本21，伊利诺伊州芝加哥）进行统计分析。在总CD4(+)T细胞中，TCR-Vβ2水平低于5.4%或高于39.5%，在识别受SS影响患者外周血中克隆的存在时，在敏感性（98.1%）和特异性（96%）之间显示出最佳平衡。基于这一观察结果，本文提出了一种在CTCL中检测恶性T细胞克隆的“两步”程序。在所有病例中评估TCR-Vβ2（第一步）。如果TCR-Vβ2水平高于39.5%，则提示该家族存在克隆性扩增，值得通过T细胞基因重排评估进行进一步确认。在TCR-Vβ2反应性低于5.4%的患者中（第二步），应评估整个TCR-Vβ库以对扩增的克隆进行分型。总之，单一的TCR-Vβ2表达检查，而非整个库的评估，是识别CTCL侵袭性白血病变体的一种简便且经济高效的方法。
