Thériault C, Galoin S, Valmary S, Selves J, Lamant L, Roda D, Rigal-Huguet F, Brousset P, Delsol G, Al Saati T
Department of Pathology, UPCM/CNRS UPR 2163, CHU-Purpan, Toulouse, France.
Mod Pathol. 2000 Dec;13(12):1269-79. doi: 10.1038/modpathol.3880232.
This report summarizes a cumulative 4-year experience in polymerase chain reaction (PCR) analysis of immunoglobin heavy chain (IgH) and TcR-gamma chain gene rearrangements in 525 cases of lymphoproliferative disorders. Because the sensitivity of the PCR methodology was found to be tissue dependent, in the study of the presence of clonal cell population in tissues containing a small number of polyclonal lymphocytes, such as skin and gastrointestinal biopsy specimens, we used the multiple-PCR run approach. In this latter methodology, we repeat the PCR reaction from the same sample at least three times to confirm the reproducibility of the results. In the study of 273 cases of B- or T-cell lymphomas with characteristic immunomorphological and clinical features, a clonal IgH or TcR-gamma chain gene rearrangement was detected in approximately 80% of cases. A clonal rearrangement involving both IgH and TcR-gamma chain genes was found in 10% of cases of both B-cell and T-cell lymphomas. The study of 167 cases of nonneoplastic lymphoid tissue samples showed the presence of clonally rearranged cell populations for IgH or TcR-gamma genes in 3 and 9% of cases, respectively. We also applied PCR for the study of 85 cases of lymphoproliferations with no definite diagnosis (i.e., benign versus malignant) after immunomorphological analysis. In 65 cases (76%), the correlation of immunomorphological features with the presence (48 cases) or the absence (17 cases) of clonal lymphoid cell populations led to a definite diagnosis. In almost all these cases, the final diagnosis was found to be in agreement with the clinical course. In the 20 remaining cases (24%), no definite diagnosis could be made. We also assessed the value of PCR in detecting bcl-2/J(H) gene rearrangement as an additional clonal marker in the diagnosis of follicular lymphoma. Bcl-2/J(H) rearrangement and/or IgH gene rearrangement was found in approximately 85% (71/85) of follicular lymphoma cases studied.
本报告总结了对525例淋巴增生性疾病进行免疫球蛋白重链（IgH）和TcR-γ链基因重排的聚合酶链反应（PCR）分析的4年累积经验。由于发现PCR方法的敏感性取决于组织，在研究含有少量多克隆淋巴细胞的组织（如皮肤和胃肠道活检标本）中克隆细胞群的存在时，我们采用了多次PCR运行方法。在这后一种方法中，我们对同一样本至少重复进行三次PCR反应，以确认结果的可重复性。在对273例具有特征性免疫形态学和临床特征的B或T细胞淋巴瘤的研究中，约80%的病例检测到克隆性IgH或TcR-γ链基因重排。在10%的B细胞和T细胞淋巴瘤病例中发现了涉及IgH和TcR-γ链基因的克隆性重排。对167例非肿瘤性淋巴组织样本的研究显示，分别有3%和9%的病例存在IgH或TcR-γ基因的克隆性重排细胞群。我们还将PCR应用于对85例免疫形态学分析后无明确诊断（即良性与恶性）的淋巴增生性疾病的研究。在65例（76%）病例中，免疫形态学特征与克隆性淋巴细胞群的存在（48例）或不存在（17例）之间的相关性得出了明确诊断。在几乎所有这些病例中，最终诊断与临床病程一致。在其余20例（24%）病例中，无法做出明确诊断。我们还评估了PCR在检测bcl-2/J(H)基因重排作为滤泡性淋巴瘤诊断中额外克隆标志物的价值。在所研究的滤泡性淋巴瘤病例中，约85%（共85例中的71例）发现了bcl-2/J(H)重排和/或IgH基因重排。
