The usefulness and limitation of molecular genetical analysis in diagnosing malignant lymphoma.

H. Miwa, N. Matsuoka, T. Nosaka, K. Kita, S. Shirakawa
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Abstract

We analyzed 176 cases of lymphoproliferative disorders by molecular genetical approach in conjunction with phenotypical examinations.Tγ/LGL proliferative disorder has been revealed to consist of at least two groups; one is CD3(+), TcR gene rearranged group which is considered as T-cell lineage, the other is CD3(-), TcR gene germ line one which is cosidered as “NK cell” origin.Many AILD cases with some atypic cells (AILD-T) have rearranged TcR genes and are supposed to be related to T-cell lymphoma. Though we examined the gene expression of IL-4, 5 to clarify the clinical features of AILD, we failed to observe distinct participation of IL-4, 5.We frequently observed dual genotype (simultaneous rearralgements of Ig and TcR genes) cases in CD20(+) c-ALL and stage II T-ALL/LBL. It has been supposed that common recombinase and accessibility for it are activated at such specific stages of lymphocyte maturation.In addition, we analyzed precise biallelic IgH gene structure by examining 5'D region of IgH, and observed difference of rearrangement patterns which are specific for diseases or maturational stage.
分子遗传学分析在恶性淋巴瘤诊断中的作用及局限性。
我们分析了176例淋巴细胞增生性疾病的分子遗传学方法,并结合表型检查。Tγ/LGL增生性疾病已被发现至少包括两组;一种是CD3(+)、TcR基因重排组,被认为是t细胞谱系;另一种是CD3(-)、TcR基因生殖系,被认为是“NK细胞”起源。许多AILD患者伴有一些非典型细胞(AILD- t),其TcR基因重排,可能与t细胞淋巴瘤有关。虽然我们通过检测il - 4,5的基因表达来阐明AILD的临床特征,但我们没有观察到il - 4,5的明显参与。我们经常在CD20(+) c-ALL和II期T-ALL/LBL中观察到双基因型(Ig和TcR基因同时重排)病例。据推测,在淋巴细胞成熟的特定阶段,常见的重组酶及其可及性被激活。此外,我们通过检测IgH的5d区,分析了精确的双等位基因的IgH基因结构,并观察了疾病或成熟阶段特异性重排模式的差异。
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