Shen D F, Zhuang Z, LeHoang P, Böni R, Zheng S, Nussenblatt R B, Chan C C
Laboratory of Immunology, National Eye Institute, Bethesda, Maryland, USA.
Ophthalmology. 1998 Sep;105(9):1664-9. doi: 10.1016/S0161-6420(98)99036-4.
Primary intraocular lymphoma, a non-Hodgkin's lymphoma, is a primary central nervous system lymphoma (PCNSL). Diagnosis is usually made by identifying malignant, large B lymphocytes in the vitreous, eye, brain, and cerebral spinal fluid; however, these cells are few, friable, and difficult to recognize. Recently, clonal heavy chain immunoglobulin (IgH) gene rearrangement and bcl-2 gene translocation have been reported in systemic B-cell lymphoma and are used for the detection of malignant cells and in making a diagnosis. The authors investigated the molecular changes in three eyes and a chorioretinal biopsy specimen of four patients with PCNSL.
Human tissue study.
Five ocular specimens of PCNSL were collected.
The first patient had a diagnostic enucleation of the left eye. The second patient underwent diagnostic chorioretinal biopsy. In the third case, a pair of autopsied eyes with reactive lymphoplasmacytic infiltrates of a patient with acquired immune deficiency syndrome (AIDS) were studied. In the fourth case, an enucleated eye of a patient with AIDS-associated lymphoma was sampled.
The bcl-2 and IgH genes of the lymphoma cells from routine, paraffin-embedded, formaldehyde-fixed, or frozen histologic tissue sections were analyzed using microdissection and polymerase chain reaction (PCR) technique.
Lymphoma cells obtained from the above four cases showed IgH rearrangement gene in the third framework of the VH region. Bcl-2-associated translocation also was detected in three cases (cases 1, 2, and 4).
Rearrangement of the IgH gene can serve as a molecular marker for PCNSL. Microdissection allows for procurement and analysis of specific, selected, minute cell populations that are obtained from histologic sections of the complex, heterogeneous tissue. Translocation of IgH and bcl-2, the apoptotic "survival" signal and proto-oncogene, could contribute to the pathogenesis of PCNSL. The combination of microdissection and PCR is a powerful tool for studies of small lesions and cell populations and for understanding disease mechanisms.
原发性眼内淋巴瘤是一种非霍奇金淋巴瘤，属于原发性中枢神经系统淋巴瘤（PCNSL）。通常通过在玻璃体、眼、脑和脑脊液中识别恶性大B淋巴细胞来进行诊断；然而，这些细胞数量稀少、易碎且难以识别。最近，在系统性B细胞淋巴瘤中报道了克隆性重链免疫球蛋白（IgH）基因重排和bcl-2基因易位，并用于恶性细胞的检测和诊断。作者研究了4例PCNSL患者的3只眼和1份脉络膜视网膜活检标本中的分子变化。
人体组织研究。
收集了5份PCNSL的眼部标本。
第一例患者接受了左眼诊断性眼球摘除术。第二例患者接受了诊断性脉络膜视网膜活检。第三例研究了一名获得性免疫缺陷综合征（AIDS）患者尸检时的一对有反应性淋巴浆细胞浸润的眼睛。第四例对一名AIDS相关淋巴瘤患者的摘除眼球进行了取样。
使用显微切割和聚合酶链反应（PCR）技术分析常规、石蜡包埋、甲醛固定或冷冻组织学切片中淋巴瘤细胞的bcl-2和IgH基因。
从上述4例病例中获得的淋巴瘤细胞在VH区域的第三个构架中显示出IgH重排基因。在3例病例（病例1、2和4）中也检测到了bcl-2相关易位。
IgH基因重排可作为PCNSL的分子标志物。显微切割允许从复杂、异质性组织的组织学切片中获取和分析特定的、选定的微小细胞群体。IgH和bcl-2的易位，即凋亡“存活”信号和原癌基因，可能有助于PCNSL的发病机制。显微切割和PCR的结合是研究小病变和细胞群体以及理解疾病机制的有力工具。
