Weber-Matthiesen K, Deerberg-Wittram J, Rosenwald A, Poetsch M, Grote W, Schlegelberger B
Department of Human Genetics, University of Kiel, Germany.
Am J Pathol. 1996 Aug;149(2):463-8.
A number of neoplastic disorders are characterized by recurrent chromosome aberrations. One of these is the translocation t(2;5), which is found in a considerable percentage of large-cell anaplastic lymphomas. This translocation results in the fusion of two genes, alk and npm. The recent discovery of alk/npm mRNA in 11 of 13 cases of Hodgkin's disease has caused a controversial discussion concerning the question of whether t(2;5) is also present in Hodgkin and Reed-Sternberg cells. We tackled this problem on the molecular cytogenetic level by combined CD30 immunophenotyping and interphase cytogenetics. Using a pair of DNA probes flanking both sides of the npm gene breakpoint at 5q35 we were able to prove, at least in 12 of 13 cases of Hodgkin's disease, that all CD30-positive Hodgkin and Reed-Sternberg cells lacked the translocation t(2;5). Fifteen to forty-five Hodgkin/Reed-Sternberg cells were analyzed per case (mean, 27). Our findings indicate that this translocation is not a primary event in the development of Hodgkin's disease.
许多肿瘤性疾病的特征是反复出现染色体畸变。其中之一是t(2;5)易位,在相当比例的大细胞间变性淋巴瘤中可以发现。这种易位导致alk和npm两个基因融合。最近在13例霍奇金病中的11例中发现了alk/npm mRNA,这引发了关于霍奇金和里德-斯腾伯格细胞中是否也存在t(2;5)的争议性讨论。我们通过联合CD30免疫表型分析和间期细胞遗传学技术,在分子细胞遗传学水平上解决了这个问题。使用一对位于5q35的npm基因断点两侧的DNA探针,我们至少在13例霍奇金病中的12例中证明,所有CD30阳性的霍奇金和里德-斯腾伯格细胞都不存在t(2;5)易位。每例分析15至45个霍奇金/里德-斯腾伯格细胞(平均27个)。我们的研究结果表明,这种易位不是霍奇金病发生过程中的主要事件。