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首页> 外文期刊>Virchows Archiv: an international journal of pathology >Allelic losses on chromosome arm 10q and mutation of the PTEN (MMAC1) tumour suppressor gene in primary and metastatic malignant melanomas.
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Allelic losses on chromosome arm 10q and mutation of the PTEN (MMAC1) tumour suppressor gene in primary and metastatic malignant melanomas.

机译:原发性和转移性恶性黑色素瘤中染色体臂10q的等位基因缺失和PTEN(MMAC1)抑癌基因的突变。

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摘要

Malignant melanomas frequently show loss of alleles on the long arm of chromosome 10. The PTEN (MMAC1) gene has been identified as a tumour suppressor gene at 10q23.3 that is mutated in various types of advanced human cancers. We have investigated a series of 40 sporadic melanomas from 37 patients (15 primary cutaneous melanomas and 25 melanoma metastases) for allelic losses on chromosome 10, as well as for deletion and mutation of the PTEN gene. Microsatellite analysis revealed loss of heterozygosity at loci located on 10q in tumours from 15 of 34 patients investigated (44%). Somatic PTEN mutations were identified in melanomas from 4 of 37 patients (11%), all of whom had metastatic disease. In two of these patients, the tumours had additionally lost one PTEN allele, indicating complete loss of wild-type PTEN in the tumour cells. Our findings corroborate that loss of heterozygosity on chromosome 10 is a frequent aberration in malignant melanomas and implicate PTEN as a tumour suppressor gene inactivated by somatic mutation in a fraction of these tumours.
机译:恶性黑色素瘤经常在10号染色体的长臂上显示等位基因缺失。PTEN(MMAC1)基因已在10q23.3被鉴定为抑癌基因,在各种类型的晚期人类癌症中均发生了突变。我们已经研究了来自37位患者的15例40例散发性黑色素瘤(15例原发性皮肤黑色素瘤和25例黑色素瘤转移灶)在10号染色体上的等位基因缺失,以及PTEN基因的缺失和突变。微卫星分析显示,在研究的34位患者中,有15位(44%)在肿瘤中位于10q的位点丧失了杂合性。在37例患者中有4例(11%)的黑素瘤中发现了体细胞PTEN突变,这些患者均患有转移性疾病。在其中的两名患者中,肿瘤另外丢失了一个PTEN等位基因,表明肿瘤细胞中野生型PTEN完全丧失。我们的发现证实了在恶性黑色素瘤中10号染色体杂合性的丧失是常见畸变,并暗示PTEN作为在这些肿瘤的一部分中因体细胞突变而失活的抑癌基因。

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