Aisenberg A C, Wilkes B M, Jacobson J O, Harris N L
Am J Med. 1987 Apr;82(4):738-44. doi: 10.1016/0002-9343(87)90009-x.
Southern blotting was employed to analyze the immunoglobulin heavy and light chain genes and the gene for the T cell receptor beta chain in genomic DNA derived from the tumor specimens of 120 adults with pathologically classified and immunotyped non-Hodgkin's lymphoma and B cell chronic lymphocytic leukemia. In a consecutive series of 100 patients, one or two rearranged heavy chain genes could be detected in each of the 80 samples expressing clonal surface immunoglobulin. The kappa gene was rearranged in 70 percent of kappa-bearing tumors and in 23 percent of lambda-bearing specimens. Furthermore, a rearranged immunoglobulin gene was also observed in 21 of 29 lymphomas (nine from the consecutive series and 20 selected for surface immunoglobulin-negative status) in which B cell lineage was in doubt because of absent clonal surface immunoglobulin. These findings indicate that most cases of lymphoma and lymphocytic leukemia in adults are of B cell lineage, even when phenotypic evidence is inconclusive. The exceptional cases (only 3 percent in the consecutive series) were of either follicular lymphoma or diffuse large cell (histiocytic) lymphoma subtype; the lineage in cases of diffuse lymphocytic lymphoma or chronic lymphocytic leukemia was never in doubt. Although the convenience of surface marker analysis assures its continuing clinical application, gene study resolves indeterminate cases and extends the understanding of the pathogenesis of lymphoproliferative disease.
采用Southern印迹法分析了120例经病理分类和免疫分型的成人非霍奇金淋巴瘤及B细胞慢性淋巴细胞白血病肿瘤标本基因组DNA中的免疫球蛋白重链和轻链基因以及T细胞受体β链基因。在连续的100例患者中，在80例表达克隆性表面免疫球蛋白的样本中，每例均可检测到一或两个重排的重链基因。κ基因在70%的含κ肿瘤和23%的含λ标本中发生重排。此外，在29例淋巴瘤中的21例（9例来自连续系列，20例因表面免疫球蛋白阴性而被挑选）中也观察到重排的免疫球蛋白基因，这些淋巴瘤因缺乏克隆性表面免疫球蛋白而使B细胞系别存疑。这些发现表明，即使表型证据不确凿，大多数成人淋巴瘤和淋巴细胞白血病病例仍为B细胞系别。例外情况（连续系列中仅3%）为滤泡性淋巴瘤或弥漫性大细胞（组织细胞）淋巴瘤亚型；弥漫性淋巴细胞淋巴瘤或慢性淋巴细胞白血病病例的系别从未存疑。尽管表面标志物分析的便利性确保了其在临床上的持续应用，但基因研究解决了不确定的病例，并扩展了对淋巴增殖性疾病发病机制的认识。
