原发性皮肤T细胞淋巴瘤的T细胞受体基因重排分析

Analysis of T cell Receptor Gene Rearrangement in Primary Cutaneous T cell lymphomas

目的：评价Ｓｏｕｔｈｅｒｎ印迹分析（ＳＢＡ）和聚合酶链反应（ＰＣＲ）检测原发性皮肤Ｔ细胞淋巴瘤（ＰＣＴＣＬ）Ｔ细胞受体（ＴＣＲ）基因重排（ＧＲ）的意义。方法：以ＰＣＲ扩增ＴＣＲγ的结合Ⅴ（可变区）－Ｊ（结合区）序列（ＴＣＲγＰＣＲ）和ＳＢＡ分析ＴＣＲβ链基因（ＴＣＲβＳＢＡ）检测克隆性ＧＲ。结果：蕈样肉芽肿（ＭＦ）：ＴＣＲγＰＣＲ和ＴＣＲβＳＢＡ检测６例ⅡＡ期和７例ⅡＢ期皮损标本的ＧＲ分别为５例和４例以及６例和５例，外周血分别有４例、２例和５例、３例示ＧＲ；而７例ⅠＡ期和１０例ⅠＢ期的ＴＣＲγＧＲ和ＴＣＲβＧＲ皮肤组织为４例、１例和７例、１例，外周血为３例、阴性和４例、１例。１例ＭＦⅡＡ表现为皮病性淋巴结病患者的淋巴结中证实有ＧＲ。疑诊ＭＦ：１１例患者的皮损和外周血标本经ＴＣＲγＰＣＲ检测５例皮肤和３例外周血见ＧＲ。非蕈样肉芽肿、Ｓéｚａｒｙ综合征的ＰＣＴＣＬ：ＰＣＲ和ＳＢＡ显示ＴＣＲＧＲ分别为皮肤组织占９例／１０例和６例／８例，外周血占９例／１０例和６例／１１例。Ｓéｚａｒｙ综合征和淋巴瘤样丘疹病：２例Ｓéｚａｒｙ综合征外周血和其中１例皮肤标本同时见ＴＣＲγＧＲ和ＴＣＲβＧＲ；

Objects: To evaluate the significance of T cell receptor(TCR) gene rearrangment(GR) in primary cutaneous T cell lymphomas(PCTCL) by detection of Southern blot analysis(SBA) and polymerase chain reaction(PCR). Methods: Clonal GR were simultaneously studied by the amplification of junctional V(variable) J(joining) sequences of the rearranged TCR γ genes by PCR(TCR γPCR) and the analysis of TCR β chain genes by SBA(TCR βSBA). Results: In mycosis fungoides(MF), GR of skin specimens by TCR γPCR and TCR βSBA were detected in 5 and 4 of 6 patients with MFⅡA, 6 and 5 of 7 patients with MFⅡB respectively. Clonal GR were also seen in 4 and 1 of 7 cases, 7 and 1 of 10 cases in MFⅠA and MFⅠB respectively. GR of blood samples by PCR and SBA were present in 4 and 2 of 6 patients with MFⅡA, 5 and 3 of 7 patients with MFⅡB. GR was confirmed by TCR γPCR and TCR βSBA in one lymph node showing dermatopathic lymphadenopathy of one case with MFⅡA. In 11 patients of clinically suspected MF, GR were present in skin specimens of 5 cases and blood sample of 3 cases by TCR γPCR. In non mycosis fungoides and Sézary syndrome PCTCL, GR were found in 9 skin specimens from 10 patients detected by TCR γPCR and 6 skin specimens from 8 patients detected by TCR βSBA. GR were also seen in 6 blood samples from 11 patients detected by TCR γPCR and 9 blood samples from 10 patients by TCR βSBA. In Sézary syndrome(SS) and lymphomatoid papulosis (LyP), TCR γGR and TCR βGR were detected in skin specimens of two patients with LyP and blood samples of two patients with SS. GR were seen in one skin specimen of one patient with SS and one blood sample of one patient with LyP detected by TCR γPCR. Conclusion: TCR γPCR is a useful supplement to other methods for the diagnosis of early and suspected MF.