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1型神经纤维瘤病中良性和恶性肿瘤的17号染色体杂合性缺失研究

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.

作者信息

Rasmussen S A, Overman J, Thomson S A, Colman S D, Abernathy C R, Trimpert R E, Moose R, Virdi G, Roux K, Bauer M, Rojiani A M, Maria B L, Muir D, Wallace M R

机构信息

Department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville, Florida, USA.

出版信息

Genes Chromosomes Cancer. 2000 Aug;28(4):425-31.

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition characterized by benign tumor (neurofibroma) growth and increased risk of malignancy. Dermal neurofibromas, arising from superficial nerves, are primarily of cosmetic significance, whereas plexiform neurofibromas, typically larger and associated with deeply placed nerves, extend into contiguous tissues and may cause serious functional impairment. Malignant peripheral nerve sheath tumors (MPNSTs) seem to arise from plexiform neurofibromas. The NF1 gene, on chromosome segment 17q11.2, encodes a protein that has tumor suppressor function. Loss of heterozygosity (LOH) for NF1 has been reported in some neurofibromas and NF1 malignancies, but plexiform tumors have been poorly represented. Also, the studies did not always employ the same markers, preventing simple comparison of the frequency and extent of LOH among different tumor types. Our chromosome 17 LOH analysis in a cohort of three tumor types was positive for NF1 allele loss in 2/15 (13%) dermal neurofibromas, 4/10 (40%) plexiform neurofibromas, and 3/5 (60%) MPNSTs. Although the region of loss varied, the p arm (including TP53) was lost only in malignant tumors. The losses in the plexiform tumors all included sequences distal to NF1. No subtle TP53 mutations were found in any tumors. This study also reports the identification of both NF1 "hits" in plexiform tumors, further supporting the tumor suppressor role of the NF1 gene in this tumor type.

摘要

1型神经纤维瘤病(NF1)是一种常见的常染色体显性遗传病,其特征为良性肿瘤(神经纤维瘤)生长以及恶性肿瘤风险增加。起源于浅表神经的皮肤神经纤维瘤主要具有美容方面的意义,而丛状神经纤维瘤通常更大,与深部神经相关,可延伸至相邻组织并可能导致严重的功能障碍。恶性外周神经鞘瘤(MPNST)似乎起源于丛状神经纤维瘤。位于染色体17q11.2区段的NF1基因编码一种具有肿瘤抑制功能的蛋白质。在一些神经纤维瘤和NF1相关恶性肿瘤中已报道存在NF1杂合性缺失(LOH),但丛状肿瘤的相关报道较少。此外,这些研究并非总是使用相同的标记,这使得不同肿瘤类型之间LOH的频率和范围难以进行简单比较。我们对一组三种肿瘤类型进行的17号染色体LOH分析显示,在2/15(13%)的皮肤神经纤维瘤、4/10(40%)的丛状神经纤维瘤和3/5(60%)的MPNST中,NF1等位基因缺失呈阳性。尽管缺失区域有所不同,但仅在恶性肿瘤中发现p臂(包括TP53)缺失。丛状肿瘤中的缺失均包括NF1远端的序列。在任何肿瘤中均未发现细微的TP53突变。本研究还报告了在丛状肿瘤中鉴定出两个NF1“打击”,进一步支持了NF1基因在这种肿瘤类型中的肿瘤抑制作用。

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