Suppr超能文献

蕈样肉芽肿和塞扎里综合征的等位基因分型:在9号染色体短臂、10号染色体长臂和17号染色体短臂上确定的等位基因缺失常见区域。

Allelotyping in mycosis fungoides and Sézary syndrome: common regions of allelic loss identified on 9p, 10q, and 17p.

作者信息

Scarisbrick J J, Woolford A J, Russell-Jones R, Whittaker S J

机构信息

Skin Tumour Unit, St John's Institute Dermatology, St Thomas' Hospital, London, UK.

出版信息

J Invest Dermatol. 2001 Sep;117(3):663-70. doi: 10.1046/j.0022-202x.2001.01460.x.

Abstract

Allelotyping studies have been extensively used in a wide variety of malignancies to define chromosomal regions of allelic loss and sites of putative tumor suppressor genes; however, until now this technique has not been used in cutaneous lymphoma. We have analyzed 51 samples from patients with mycosis fungoides and 15 with Sézary syndrome using methods to detect loss of heterozygosity. Micro satellite markers were selected on 15 chromosomal arms because of their proximity to either known tumor suppressor genes or chromosomal abnormalities identified in previous cytogenetic studies in cutaneous lymphoma. Allelic loss was present in 45% of patients with mycosis fungoides and 67% with Sézary syndrome. Loss of heterozygosity was found in over 10% of patients with mycosis fungoides on 9p, 10q, 1p, and 17p and was present in 37% with early stage (T1 and T2) and 57% with advanced disease (T3 and T4). Allelic loss on 1p and 9p were found in all stages of mycosis fungoides, whereas losses on 17p and 10q were limited to advanced disease. In Sézary syndrome high rates of loss of heterozygosity were detected on 9p (46%) and 17p (42%) with lower rates on 2p (12%), 6q (7%), and 10q (12%). There was no significant difference in the age at diagnosis or number of treatments received by those with loss of heterozygosity and those without, suggesting that increasing age and multiple treatments do not predispose to allelic loss. These results provide the basis for further studies defining more accurately chromosomal regions of deletions and candidate tumor suppressor genes involved in mycosis fungoides and Sézary syndrome.

摘要

等位基因分型研究已广泛应用于多种恶性肿瘤,以确定等位基因缺失的染色体区域和假定肿瘤抑制基因的位点;然而,迄今为止,该技术尚未用于皮肤淋巴瘤。我们使用检测杂合性缺失的方法,分析了51例蕈样肉芽肿患者和15例塞扎里综合征患者的样本。由于微卫星标记靠近先前皮肤淋巴瘤细胞遗传学研究中确定的已知肿瘤抑制基因或染色体异常,因此在15个染色体臂上选择了微卫星标记。45%的蕈样肉芽肿患者和67%的塞扎里综合征患者存在等位基因缺失。在9p、10q、1p和17p上,超过10%的蕈样肉芽肿患者发现杂合性缺失,早期(T1和T2)患者中为37%,晚期疾病(T3和T4)患者中为57%。在蕈样肉芽肿的所有阶段均发现1p和9p上的等位基因缺失,而17p和10q上的缺失仅限于晚期疾病。在塞扎里综合征中,9p(46%)和17p(42%)的杂合性缺失率较高,2p(12%)、6q(7%)和10q(12%)的缺失率较低。杂合性缺失患者与无杂合性缺失患者在诊断年龄或接受治疗次数上无显著差异,这表明年龄增长和多次治疗不会导致等位基因缺失。这些结果为进一步研究更准确地确定蕈样肉芽肿和塞扎里综合征中缺失的染色体区域及候选肿瘤抑制基因提供了基础。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验