Rhodes C H, Glantz M J, Glantz L, Lekos A, Sorenson G D, Honsinger C, Levy N B
Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA.
Cancer. 1996 Feb 1;77(3):543-8. doi: 10.1002/(SICI)1097-0142(19960201)77:3<543::AID-CNCR17>3.0.CO;2-4.
Inherent limitations of conventional cytology often result in a failure to diagnose lymphomatous meningitis in cerebrospinal fluid (CSF) specimens from patients who actually have the disease. The development of polymerase chain reaction (PCR) techniques for the diagnosis of lymphoma based on the detection of clonal rearrangements of the immunoglobulin or T-cell receptor genes offers an alternative, DNA-based test for the diagnosis of lymphoma in the CSF.
In this retrospective study, 31 CSF specimens from 21 patients were examined by a PCR technique that can detect clonal immunoglobulin gene rearrangements. Twenty-four of the specimens came from 14 patients who eventually had definitive histologic or cytologic diagnoses of B-cell lymphoma. The other seven patients had other neurologic diagnoses, including two patients with reactive lymphocytosis, three with glioblastoma, one with metastatic carcinoma, and one with multi-infarct dementia. The results of the PCR examinations were compared with cytologic evaluation of the same CSF specimens.
Five of seven specimens from patients with central nervous system lymphoma that were suspicious for, but not diagnostic of, lymphoma by conventional cytology were positive by PCR. Of 13 specimens from patients with lymphoma that showed no cytologic evidence of malignancy, 5 were positive by PCR. Two of four specimens for which conventional cytology showed definitive evidence of lymphoma were positive by PCR. Two specimens from patients with a reactive lymphocytosis showed a polyclonal pattern by PCR. Specimens from patients with other neurologic diseases were negative by PCR even when cytologically malignant (glioblastoma) cells were present in the specimen.
PCR examination of CSF is practical, complements conventional cytology, and sometimes provides the correct diagnosis when conventional cytology yields only ambiguous results.
传统细胞学的固有局限性常常导致无法诊断出实际患有淋巴瘤性脑膜炎患者脑脊液（CSF）标本中的淋巴瘤。基于免疫球蛋白或T细胞受体基因克隆重排检测的聚合酶链反应（PCR）技术的发展，为脑脊液中淋巴瘤的诊断提供了一种基于DNA的替代检测方法。
在这项回顾性研究中，采用一种能够检测克隆性免疫球蛋白基因重排的PCR技术，对21例患者的31份脑脊液标本进行了检测。其中24份标本来自14例最终经组织学或细胞学确诊为B细胞淋巴瘤的患者。另外7例患者患有其他神经系统疾病，包括2例反应性淋巴细胞增多症患者、3例胶质母细胞瘤患者、1例转移性癌患者和1例多发梗死性痴呆患者。将PCR检测结果与同一脑脊液标本的细胞学评估结果进行比较。
7份来自中枢神经系统淋巴瘤患者的标本，通过传统细胞学检查可疑但不能确诊淋巴瘤，其中5份经PCR检测呈阳性。13份来自淋巴瘤患者的标本，细胞学检查未发现恶性证据，其中5份经PCR检测呈阳性。4份传统细胞学检查显示有明确淋巴瘤证据的标本中，2份经PCR检测呈阳性。2份来自反应性淋巴细胞增多症患者的标本，PCR检测显示为多克隆模式。来自其他神经系统疾病患者的标本，即使在细胞学检查中存在恶性（胶质母细胞瘤）细胞，经PCR检测仍为阴性。
脑脊液的PCR检测实用，可补充传统细胞学检查，并且在传统细胞学检查结果不明确时，有时能提供正确诊断。
