Hodges E, Stacey G N, Howell W M, Jones D B, Smith J L
Regional Immunology Service, Southampton General Hospital.
J Clin Pathol. 1990 Jul;43(7):548-53. doi: 10.1136/jcp.43.7.548.
The value of genotypic analysis for routine assessment of leukaemia and lymphoma was shown by the findings in a selected series of 30 cases. T cell receptor (TcR) gene rearrangements were observed in six out of nine cases of CD3+ CD8+ lymphocytoses and provided clear evidence for clonality in this group. The T cell proliferations in two of the remaining cases masked B cell lymphocytic leukaemia and hairy cell leukaemia, while in the third case no cause was found for the polyclonal proliferation. Heterogeneity of phenotype and genotype were observed in peripheral T cell lymphomas: one out of six cases showed TcR gene rearrangement, one case retained its germline configuration, a further case masked B cell lymphoma and the remainder were polyclonal. Genotypic analysis was helpful in the analysis of a tumour of mixed T cell and myeloid phenotype which was shown to be germline for TcR and immunoglobulin genes, consistent with a myeloid origin. Two histiocytic tumours were found to have clonal rearrangement of TcR genes. Nine out of 11 B cell tumours showed immunoglobulin gene rearrangement. It is concluded that genetic analyses are useful in the analysis of T cell, histiocytic, and B cell tumours in which an immunoglobulin phenotype cannot be defined.
对30例特定病例的研究结果表明了基因分型分析在白血病和淋巴瘤常规评估中的价值。在9例CD3 + CD8 +淋巴细胞增多症病例中，有6例观察到T细胞受体（TcR）基因重排，为该组的克隆性提供了明确证据。其余2例中的T细胞增殖掩盖了B细胞淋巴细胞白血病和毛细胞白血病，而第3例中未发现多克隆增殖的原因。在外周T细胞淋巴瘤中观察到表型和基因型的异质性：6例中有1例显示TcR基因重排，1例保留其种系构型，另1例掩盖了B细胞淋巴瘤，其余为多克隆。基因分型分析有助于分析混合T细胞和髓样表型的肿瘤，该肿瘤显示TcR和免疫球蛋白基因为种系，与髓样起源一致。发现2例组织细胞肿瘤有TcR基因的克隆重排。11例B细胞肿瘤中有9例显示免疫球蛋白基因重排。结论是，基因分析对于无法定义免疫球蛋白表型的T细胞、组织细胞和B细胞肿瘤的分析是有用的。
