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通过联合间期和中期细胞遗传学检测,在几乎所有伴有蛋白异常血症型T细胞淋巴瘤的血管免疫母细胞性淋巴结病病例中检测到异常克隆。

Detection of aberrant clones in nearly all cases of angioimmunoblastic lymphadenopathy with dysproteinemia-type T-cell lymphoma by combined interphase and metaphase cytogenetics.

作者信息

Schlegelberger B, Zhang Y, Weber-Matthiesen K, Grote W

机构信息

Department of Human Genetics, University of Kiel, Germany.

出版信息

Blood. 1994 Oct 15;84(8):2640-8.

PMID:7919378
Abstract

Trisomy 3, trisomy 5, and an X additional chromosome are the most frequent chromosome aberrations in angioimmunoblastic lymphadenopathy with proteinemia (AILD)-type T-cell lymphomas. To evaluate the frequency of +3 and +X clones, fluorescence in situ hybridization studies with centromere-specific probes for chromosome 3 and X were done in 41 patients with peripheral T-cell lymphomas (PTL). With this interphase cytogenetic approach, 32 of 41 patients (78%) showed +3 clones, and 14 patients (34%) +X clones. These frequencies far exceeded those observed with metaphase cytogenetics (+3, 41%; +X, 20%). Summing up the results of metaphase and interphase cytogenetics, aberrant clones were found in 37 of 41 patients with PTL (90%) and 32 of 36 patients with AILD-type T-cell lymphoma (89%). Although AILD-type T-cell lymphoma is considered a neoplastic disease, it is an exception in that it shows a high frequency of cytogenetically unrelated clones and single cells that cannot be derived from a common cell of origin because of their completely different karyotypes. In five patients, double hybridization with centromere-specific probes for chromosomes 3 and X showed that these aberrations occurred in different cells. When the results of metaphase and interphase cytogenetics were combined, 17 of 36 patients with AILD-type T-cell lymphoma (47%) had unrelated clones. This high frequency of oligoclonal proliferations may be caused by increased genetic instability and an immune defect resulting in impaired elimination of aberrant cells.

摘要

三体3、三体5以及额外的一条X染色体是血管免疫母细胞性淋巴结病伴蛋白血症(AILD)型T细胞淋巴瘤中最常见的染色体畸变。为评估+3和+X克隆的频率,对41例外周T细胞淋巴瘤(PTL)患者进行了使用3号和X号染色体着丝粒特异性探针的荧光原位杂交研究。采用这种间期细胞遗传学方法,41例患者中有32例(78%)显示+3克隆,14例患者(34%)显示+X克隆。这些频率远远超过中期细胞遗传学观察到的频率(+3为41%,+X为20%)。综合中期和间期细胞遗传学的结果,41例PTL患者中有37例(90%)发现异常克隆,36例AILD型T细胞淋巴瘤患者中有32例(89%)发现异常克隆。尽管AILD型T细胞淋巴瘤被认为是一种肿瘤性疾病,但它是一个例外,因为它显示出细胞遗传学上不相关的克隆和单个细胞的高频率,由于它们完全不同的核型,这些克隆和细胞不可能源自共同的起源细胞。在5例患者中,使用3号和X号染色体着丝粒特异性探针进行的双重杂交显示这些畸变发生在不同的细胞中。当结合中期和间期细胞遗传学的结果时,36例AILD型T细胞淋巴瘤患者中有17例(47%)有不相关的克隆。这种寡克隆增殖的高频率可能是由遗传不稳定性增加和免疫缺陷导致异常细胞清除受损引起的。

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