细胞遗传学和间期FISH在淋巴瘤诊断中的应用

Cytogenetic and interphase FISH studies in the diagnosis of malignant lymphomas

目的评估细胞遗传学和荧光原位杂交技术（FISH）对临床和（或）细针穿刺细胞学检查诊断为淋巴瘤或不能除外淋巴瘤病例的价值。方法同时采用常规组织学、免疫组织化学、细胞遗传学检查和间期FISH技术方法，对223例直径≥1．5cm淋巴结的手术活检标本进行系统性研究。FISH探针采用直接荧光标记的IGH LSI双色分开探针。结果2例患者的取材因坏死成分较多无法诊断。221例患者的病理诊断中，霍奇金淋巴瘤（HL）44例（19．9％），非霍奇金淋巴瘤（NHL）162例（73．3％），其他恶性病变4例（1．8％），良性病变11例（5．0％）。间期FISH结果显示，HL的免疫球蛋白重链基因（IGH）异常的发生率为13．6％（6／44），NHL为51．2％（83／162），良性病变为0％（0／11），差异有统计学意义（P〈0．001）。细胞遗传学和间期FISH联合检查时，HL和NHL的检出率分别提高到15．9％和77．8％，其中有3例为组织病理学和免疫组化检查不能定性者。结论间期FISH是检测IGH基因异常的快速和敏感的手段。细胞遗传学和间期FISH检测是淋巴瘤诊断的重要辅助手段。

Objective To evaluate the role of cytogenetic study and interphase FISH analysis in differential diagnosis of patients with clinical and/or cytological diagnosis as lymphoma or ＂suspicious for lymphoma＂. Methods Routine histology, immunohistochemistry, cytogenetics and interphase FISH studies were used to assess 223 cases with superficial lymph nodes of not less than 1.5 cm in diameter. The probe used in the interphase FISH assays is the Vysis＇ LSI IGH Dual Color, Break Apart Rearrangement Probe. Results Based on these studies, forty-four patients were diagnosed as Hodgkin＇s lymphomas （ HL）, 162 as Non-Hodgkin＇s lymphomas （NHL）, 11 with benign diseases and 4 as other malignancies, while the remaining 2 cases were discarded due to tissue necrosis. Using interphase FISH, abnormalities of immunoglobulin heavy chain gene （IGH） were detected in 6/44 （ 13.6% ） and 83/162 （51.2%） in the HL and NHL cases, respectively, while none was observed in 11 cases with a benign disease （ P 〈 O. 001 ）. Combining cytogenetics and FISH studies, the detection rates for HL and NHL cases then increased to 15.9% and 77. 8%, respectively, otherwise, 3 of whom could not have made definite diagnosis. Conclusion Interphase FISH assay is a rapid and sensitive tool for detecting IGH abnormalities. Both cytogenetics and interphase FISH analyses may play a significant role in diagnosis of lymphomas.