Histology and Molecular Pathology EA 2406, University Bordeaux 2, 146 Rue Leo Saignat, Bordeaux, France.
J Invest Dermatol. 2010 Jun;130(6):1707-18. doi: 10.1038/jid.2010.8. Epub 2010 Feb 4.
This study was undertaken to identify recurrent genetic alterations of the three main types of cutaneous T-cell lymphomas (CTCLs): mycosis fungoides (MF), Sézary syndrome (SS), and cutaneous anaplastic large-cell lymphoma (CALCL). Using array-based comparative genomic hybridization, the molecular cytogenetic profiles of 72 samples obtained from 58 patients with CTCL corresponding to 24 transformed MF (T-MF), 16 SS, and 18 CALCLs were determined. T-MF was characterized by gains of 1q25-31, 7p22-11.2, 7q21, 7q31, and 17q12, and losses of 9p21, 10p11.2, and 10q26. SS exhibited gains of 8q23-24.3 and 17q23-24, as well as losses of 9p21, 10p12-11.2, 10q22-24, 10q25-26, and 17p13-q11.1. Finally, CALCL exhibited 6q27 and 13q34 losses. Such imbalances were statistically associated with one CTCL subtype. Unsupervised hierarchical clustering defined three categories of clinical relevance: (1) CALCL apart from epidermotropic-CTCL, (2) an SS-only category, and (3) a mixed category with T-MF and SS cases, with both primary and secondary SS cases. In rare cases, the genetic classification did not correspond to the inclusion diagnosis, possibly reflecting the association of two diseases in the same patient or initial misdiagnosis according to follow-up. Finally, different samples in the same patient clustered together, showing reproducibility of such a classifier.
本研究旨在鉴定三种主要类型的皮肤 T 细胞淋巴瘤(CTCL):蕈样真菌病(MF)、Sézary 综合征(SS)和皮肤间变大细胞淋巴瘤(CALCL)的常见遗传改变。采用基于阵列的比较基因组杂交技术,对 58 例 CTCL 患者的 72 个样本进行了检测,这些患者分别患有 24 例转化性 MF(T-MF)、16 例 SS 和 18 例 CALCL。T-MF 的特征是获得 1q25-31、7p22-11.2、7q21、7q31 和 17q12,以及失去 9p21、10p11.2 和 10q26。SS 表现为 8q23-24.3 和 17q23-24 的获得,以及 9p21、10p12-11.2、10q22-24、10q25-26 和 17p13-q11.1 的丢失。最后,CALCL 表现为 6q27 和 13q34 的缺失。这些不平衡与一种 CTCL 亚型具有统计学相关性。无监督层次聚类定义了三种具有临床相关性的类别:(1)CALCL 与表皮浸润性 CTCL 不同,(2)仅 SS 类别,(3)T-MF 和 SS 病例的混合类别,包括原发性和继发性 SS 病例。在极少数情况下,遗传分类与纳入诊断不符,这可能反映了同一患者两种疾病的关联或根据随访的初始误诊。最后,同一患者的不同样本聚集在一起,表明这种分类器具有可重复性。