Salgado Rocío, Gallardo Fernando, Servitje Octavio, Estrach Teresa, García-Muret María Pilar, Romagosa Vicente, Florensa Lourdes, Serrano Sergi, Salido Marta, Solé Francesc, Pujol Ramon M, Espinet Blanca
Laboratori de Citogenètica Molecular, Laboratori de Citologia Hematològica, Servei de Patologia, Hospital del Mar-Parc de Salut Mar, IMIM-Institut de Recerca de l'Hospital del Mar, Programa de Recerca en Càncer, GRETNHE, Barcelona, Spain.
Cancer Genet. 2011 Jul;204(7):405-9. doi: 10.1016/j.cancergen.2011.05.004.
Chromosomal aberrations involving T-cell receptor (TCR) gene loci have been described in several T-cell malignancies. In primary cutaneous T-cell lymphomas (CTCL), the frequency of these aberrations has not yet been well established. We analyzed TCR gene loci (TCRAD, TCRB, and TCRG) status in CTCLs by fluorescence in situ hybridization (FISH). Twenty-five patients with CTCLs were included in the study: 13 Sézary syndromes (SS), six tumoral stage mycosis fungoides (MFt), and six primary cutaneous anaplastic large cell lymphomas CD30(+) (cALCL-CD30(+)). FISH was performed with three break-apart probes flanking TCRAD (14q11), TCRB (7q34), and TCRG (7p14) loci in each case. TCR gene chromosomal rearrangements were not detected in any of the analyzed cases. Gains of TCRB and TCRG genes were observed in 23% (3 of 13) of SS and 50% (3 of 6) of MFt, reflecting the presence of trisomy and/or tetrasomy of chromosome 7 already detected by conventional cytogenetics and array comparative genetic hybridization techniques. TCR loci rearrangements are not frequent in CTCLs; however, we cannot exclude a pathogenic role in these malignancies.
在几种T细胞恶性肿瘤中已描述了涉及T细胞受体（TCR）基因位点的染色体畸变。在原发性皮肤T细胞淋巴瘤（CTCL）中，这些畸变的频率尚未完全明确。我们通过荧光原位杂交（FISH）分析了CTCL中TCR基因位点（TCRAD、TCRB和TCRG）的状态。25例CTCL患者纳入本研究：13例Sezary综合征（SS）、6例肿瘤期蕈样肉芽肿（MFt）和6例原发性皮肤间变性大细胞淋巴瘤CD30(+)（cALCL-CD30(+)）。对每例患者均使用三种分别位于TCRAD（14q11）、TCRB（7q34）和TCRG（7p14）位点侧翼的断裂分离探针进行FISH检测。在所分析的任何病例中均未检测到TCR基因染色体重排。在23%（13例中的3例）的SS和50%（6例中的3例）的MFt中观察到TCRB和TCRG基因的增益，这反映了通过传统细胞遗传学和阵列比较基因组杂交技术已检测到的7号染色体三体和/或四体的存在。TCR位点重排在CTCL中并不常见；然而，我们不能排除其在这些恶性肿瘤中的致病作用。
