Ponti R, Quaglino P, Novelli M, Fierro M T, Comessatti A, Peroni A, Bonello L, Bernengo M G
Section of Dermatology, Department of Biomedical Sciences and Human Oncology, University of Turin, Via Cherasco 23, 10126, Torino, Italy.
Br J Dermatol. 2005 Sep;153(3):565-73. doi: 10.1111/j.1365-2133.2005.06649.x.
A dominant T-cell clone can be detected by polymerase chain reaction (PCR) in 40-90% of cutaneous samples from patients with cutaneous T-cell lymphoma (CTCL).
From 1996 to 2003 we analysed 547 cutaneous biopsies performed to exclude CTCL (mycosis fungoides, MF/Sézary syndrome, SS). The final diagnosis was benign inflammatory disease (BID) in 353 samples (64.5%) and CTCL in 194 (35.5%). T-cell receptor (TCR)-gamma gene rearrangement was studied by using a multiplex PCR/heteroduplex (HD) analysis. The PCR results were correlated with the clinical picture, the histological pattern and the presence of T-cell lineage antigen loss, using univariate and multivariate logistic regression analyses.
To determine the sensitivity and specificity of the multiplex PCR/HD analysis and to identify which are the clinical, histopathological or immunophenotypical features significantly associated with a positive T-cell clonality.
A clonality was demonstrated in 83.5% of CTCL and in 2.3% of BID (P < 0.001). A significantly higher percentage of clonal cases was associated with the cutaneous T-score (71.4% in T1, 76.1% in T2 and 100% in nodular and erythrodermic MF samples) and with the presence of a T-cell lineage antigen loss (93.9% vs. 77.4%). Moreover, clonality was closely related to an increase in the histopathological score (51.3% in the samples with a score < 5, compared with 92% in the lesions with > or = 5). No significant difference in the percentage of clonal cases was found between T1/T2 and T3/T4 lesions with a histopathological score > or = 5. The multivariate logistic regression showed that the density and extent of the cell infiltrate, the degree of epidermotropism and the presence of cytological atypia share an independent predictive value for clonality in T1/T2 samples, even if the highest odds ratios (3.6) were associated with the density of the cell infiltrate. The disease course of T1/T2 patients was analysed according to the PCR findings. All the PCR-negative patients showed a long-standing stable disease course; on the other hand, a disease progression occurred in 12/87 (13.8%) positive patients.
The multiplex PCR/HD analysis is associated with a high diagnostic accuracy (92.7%) in CTCL patients. The finding of a clonal T-cell rearrangement is more closely associated with the histological pattern (in particular with the density and extent of the cell infiltrate) rather than with the MF cutaneous T-score or immunophenotype.
在皮肤T细胞淋巴瘤（CTCL）患者的皮肤样本中，40% - 90%可通过聚合酶链反应（PCR）检测到优势T细胞克隆。
1996年至2003年，我们分析了547例为排除CTCL（蕈样肉芽肿，MF/ Sézary综合征，SS）而进行的皮肤活检。最终诊断为良性炎症性疾病（BID）的有353例（64.5%），CTCL的有194例（35.5%）。采用多重PCR/异源双链（HD）分析研究T细胞受体（TCR）-γ基因重排。使用单因素和多因素逻辑回归分析，将PCR结果与临床表现、组织学模式以及T细胞谱系抗原丢失情况相关联。
确定多重PCR/HD分析的敏感性和特异性，并确定哪些临床、组织病理学或免疫表型特征与T细胞克隆性阳性显著相关。
83.5%的CTCL和2.3%的BID显示有克隆性（P < 0.001）。克隆性病例的百分比显著更高与皮肤T评分相关（T1中为71.4%，T2中为76.1%，结节性和红皮病型MF样本中为100%）以及与T细胞谱系抗原丢失的存在相关（93.9%对77.4%）。此外，克隆性与组织病理学评分的增加密切相关（评分<5的样本中为51.3%，而评分≥5的病变中为92%）。组织病理学评分≥5的T1/T2和T3/T4病变之间克隆性病例的百分比无显著差异。多因素逻辑回归显示，细胞浸润的密度和范围、亲表皮程度以及细胞异型性的存在对T1/T2样本中的克隆性具有独立的预测价值，即使最高比值比（3.6）与细胞浸润的密度相关。根据PCR结果分析了T1/T2患者的病程。所有PCR阴性患者显示病程长期稳定；另一方面，12/87例（13.8%）阳性患者出现疾病进展。
多重PCR/HD分析在CTCL患者中具有较高的诊断准确性（92.7%）。克隆性T细胞重排的发现与组织学模式（特别是与细胞浸润的密度和范围）的相关性比与MF皮肤T评分或免疫表型的相关性更密切。
