Suppr超能文献

毛细胞型星形细胞瘤中17号染色体长臂的缺失

Deletions on the long arm of chromosome 17 in pilocytic astrocytoma.

作者信息

von Deimling A, Louis D N, Menon A G, von Ammon K, Petersen I, Ellison D, Wiestler O D, Seizinger B R

机构信息

Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Charlestown.

出版信息

Acta Neuropathol. 1993;86(1):81-5. doi: 10.1007/BF00454903.

Abstract

Pilocytic astrocytomas are the most common astrocytic tumors of childhood and differ clinically and histopathologically from those astrocytomas that affect adults. Studies of adult astrocytic tumors have revealed allelic losses on chromosomes 10, 17p, 19q and alterations in the epidermal growth factor receptor (EGFR) gene. We have previously examined pilocytic astrocytomas for allelic losses on chromosomes 10 and 19q and for amplification of the EGFR gene, but did not detect genomic alterations at these loci. In the present study we assayed 20 pilocytic astrocytomas for loss of allelic heterozygosity of chromosome 17p, including one locus in the p53 tumor suppressor gene. In addition, because pilocytic astrocytomas frequently affect patients with neurofibromatosis type 1 (NF1) and the NF1 gene has been mapped to 17q11.2, we also examined multiple loci on the long arm of chromosome 17. Allelic loss was observed on chromosome 17 in four cases (three sporadic, one NF1); all lost portions of the long arm in chromosome 17, and one tumor lost the short arm as well. One tumor showed an interstitial deletion on the long arm that included the region of the NF1 gene. These data suggest the presence of a tumor suppressor gene on 17q that is associated with pilocytic astrocytomas. A potential candidate for this gene is the NF1 tumor suppressor gene.

摘要

毛细胞型星形细胞瘤是儿童期最常见的星形细胞肿瘤,在临床和组织病理学上与影响成人的星形细胞瘤不同。对成人星形细胞肿瘤的研究已经揭示了10号、17号染色体短臂、19号染色体长臂上的等位基因缺失以及表皮生长因子受体(EGFR)基因的改变。我们之前检测了毛细胞型星形细胞瘤10号和19号染色体长臂上的等位基因缺失以及EGFR基因的扩增,但未在这些位点检测到基因组改变。在本研究中,我们检测了20例毛细胞型星形细胞瘤17号染色体短臂上等位基因杂合性缺失情况,包括p53肿瘤抑制基因中的一个位点。此外,由于毛细胞型星形细胞瘤常发生于1型神经纤维瘤病(NF1)患者,且NF1基因已定位于17q11.2,我们还检测了17号染色体长臂上的多个位点。在4例(3例散发性、1例NF1相关)中观察到17号染色体上等位基因缺失;所有病例均缺失了17号染色体长臂的部分区域,1例肿瘤还缺失了短臂。1例肿瘤在长臂上出现了包括NF1基因区域在内的中间缺失。这些数据提示17号染色体长臂上存在一个与毛细胞型星形细胞瘤相关的肿瘤抑制基因。该基因的一个潜在候选基因是NF1肿瘤抑制基因。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验