Blood. 1987 Nov;70(5):1554-64.
To correlate cytogenetic findings with histology and immunophenotype, 260 newly diagnosed patients with non-Hodgkin's lymphoma (NHL) and 31 with adult T cell leukemia/lymphoma (ATL) were studied at the Fifth International Workshop on Chromosomes in Leukemia-Lymphoma. Clonal chromosome abnormalities were found in 85% of cases of NHL and in all cases of ATL. The most significant associations of histology with cytogenetics involved the 8q24 and 14;18 translocations. Of 23 NHL patients with an 8q24 translocation, 20 (87%) had small noncleaved cell (SNC) lymphoma. Of 57 NHL patients with a t(14;18)(q32;q21), 37 (65%) had a follicular lymphoma, and at least 13 others (23%) had a diffuse lymphoma of follicular center cell origin. Five others including two who also had an 8q24 translocation had SNC lymphoma; tumors in these patients lacked the monomorphic features seen in those with only an 8q24 translocation. The most striking associations of immunology with cytogenetics involved rearrangements of 14q11-13, abnormalities of 1p, trisomy 3, and trisomy 12. Abnormalities of 14q11-13 were correlated with T cell disease. Among 138 NHL and 24 ATL cases that lacked involvement of 8q24, t(14;18), or rearrangements of 14q11-13, abnormalities of 1p and trisomy 3 were significantly associated with the T cell phenotype (P less than .01) and trisomy 12 with the B cell phenotype (P less than .01). No karyotype difference was found between Japanese ATL and non-Japanese T cell lymphomas except that +3 occurred more often in the former (P = .06). Although the 8q24 translocations in 23 patients were distributed relatively equally among geographic regions (United States, ten; Europe, ten; Japan, three), the t(14;18) in 57 patients was much less frequently seen in Japan than in the other parts of the world (United States, 31; Europe, 21; Australia, four; Japan, one). Thirty-nine chromosome bands had breaks in five or more cases; a number of protooncogenes and genes related to lymphocyte function located in these bands are likely to be involved in the development of lymphoma. Thus, besides confirming the close association of particular chromosome abnormalities with histology, we have identified a number of new associations that merit molecular analysis.
为了将细胞遗传学结果与组织学和免疫表型相关联，在第五届白血病 - 淋巴瘤染色体国际研讨会上，对260例新诊断的非霍奇金淋巴瘤（NHL）患者和31例成人T细胞白血病/淋巴瘤（ATL）患者进行了研究。在85%的NHL病例和所有ATL病例中发现了克隆性染色体异常。组织学与细胞遗传学最显著的关联涉及8q24和14;18易位。在23例有8q24易位的NHL患者中，20例（87%）患有小无裂细胞（SNC）淋巴瘤。在57例有t(14;18)(q32;q21)的NHL患者中，37例（65%）患有滤泡性淋巴瘤，另外至少13例（23%）患有滤泡中心细胞起源的弥漫性淋巴瘤。另外5例包括2例也有8q24易位的患者患有SNC淋巴瘤；这些患者的肿瘤缺乏仅具有8q24易位患者中所见的单形性特征。免疫学与细胞遗传学最显著的关联涉及14q11 - 13重排、1p异常、三体3和三体12。14q11 - 13异常与T细胞疾病相关。在138例NHL和24例ATL病例中，若不存在8q24、t(14;18)或14q11 - 13重排，1p异常和三体3与T细胞表型显著相关（P小于0.01），三体12与B细胞表型相关（P小于0.01）。除了+3在日本ATL中出现频率更高（P = 0.06）外，未发现日本ATL与非日本T细胞淋巴瘤之间的核型差异。尽管23例患者中的8q24易位在不同地理区域（美国10例；欧洲10例；日本3例）分布相对均匀，但57例患者中的t(14;18)在日本的出现频率远低于世界其他地区（美国31例；欧洲21例；澳大利亚4例；日本1例）。39条染色体带在5例或更多病例中有断裂；位于这些带中的一些原癌基因和与淋巴细胞功能相关基因可能参与淋巴瘤的发生发展。因此，除了证实特定染色体异常与组织学的密切关联外，我们还发现了一些值得进行分子分析的新关联。
