Wallace Dana J, Shen DeFen, Reed George F, Miyanaga Masaru, Mochizuki Manabu, Sen H Nida, Dahr Samuel S, Buggage Ronald R, Nussenblatt Robert B, Chan Chi-Chao
Laboratory of Immunology, Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20895-1857, USA, and Department of Ophthalmology, Tokyo Medical and Dental University, Japan.
Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2750-6. doi: 10.1167/iovs.05-1312.
Primary intraocular lymphoma (PIOL) is a diffuse large B cell lymphoma that initially infiltrates the retina, vitreous, or optic nerve head, with or without central nervous system involvement. This study examined the expression of the bcl-2 t(14;18) translocation, the bcl-10 gene, and high expression of bcl-6 mRNA in PIOL cells.
Microdissection and PCR analysis were used to examine vitreous specimens in patients with PIOL for the presence of bcl-2 t(14;18) translocations, the bcl-10 gene, and expression of bcl-6 mRNA. A medical record review was also conducted to determine whether the bcl-2 t(14;18) translocation correlated with prognosis.
Forty of 72 (55%) PIOL patients expressed the bcl-2 t(14;18) translocation at the major breakpoint region. Fifteen of 68 (22%) patients expressed the translocation at the minor cluster region. The bcl-10 gene was detected in 6 of 26 (23%) patients, whereas 4 of 4 (100%) PIOL patients expressed higher levels of bcl-6 mRNA compared with inflammatory lymphocytes. An analysis of clinical outcome in 23 PIOL patients revealed no significant association between bcl-2 t(14;18) translocations and survival or relapse. However, patients with the translocation were significantly younger.
PIOL has unique molecular patterns of bcl-2, bcl-10, and bcl-6 when compared with other systemic lymphomas. This study lays the foundation for future studies aimed at exploring the genotypic classification of PIOL based on the quantitative molecular framework of gene expression profiling, with the goal of providing useful adjuncts to the pathologic diagnosis of this complex disease.
原发性眼内淋巴瘤（PIOL）是一种弥漫性大B细胞淋巴瘤，最初浸润视网膜、玻璃体或视神经乳头，可伴有或不伴有中枢神经系统受累。本研究检测了PIOL细胞中bcl-2 t(14;18)易位、bcl-10基因的表达以及bcl-6 mRNA的高表达情况。
采用显微切割和PCR分析检测PIOL患者玻璃体标本中bcl-2 t(14;18)易位、bcl-10基因的存在以及bcl-6 mRNA的表达。还进行了病历回顾以确定bcl-2 t(14;18)易位是否与预后相关。
72例PIOL患者中有40例（55%）在主要断裂区域表达bcl-2 t(14;18)易位。68例患者中有15例（22%）在次要簇区域表达该易位。26例患者中有6例（23%）检测到bcl-10基因，而4例PIOL患者（100%）与炎性淋巴细胞相比表达更高水平的bcl-6 mRNA。对23例PIOL患者的临床结局分析显示，bcl-2 t(14;18)易位与生存或复发之间无显著关联。然而，发生易位的患者明显更年轻。
与其他系统性淋巴瘤相比，PIOL在bcl-2、bcl-10和bcl-6方面具有独特的分子模式。本研究为未来基于基因表达谱定量分子框架探索PIOL基因分型分类的研究奠定了基础，旨在为这种复杂疾病的病理诊断提供有用的辅助手段。
