眶外巨细胞血管纤维瘤中的t(12;17)。

A t(12;17) in an extraorbital giant cell angiofibroma.

作者信息

Qian You-Wen, Malliah Rajit, Lee Huey-Jen, Das Kasturi, Mirani Neena, Hameed Meera

机构信息

Department of Pathology and Laboratory Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ 07103, USA.

出版信息

Cancer Genet Cytogenet. 2006 Mar;165(2):157-60. doi: 10.1016/j.cancergencyto.2005.08.023.

DOI:10.1016/j.cancergencyto.2005.08.023

PMID:16527610

Abstract

We report a case of a 43-year-old male who presented with a large soft-tissue neck mass 7 years ago. A diagnosis of giant cell angiofibroma (GCA) was made on the basis of light microscopy and immunohistochemical studies. Chromosome analysis showed a male karyotype with t(12;17)(q15;q23),del(18)(q21) in all 20 cells analyzed. This cytogenetic abnormality in GCA is different from the t(17;22)(q22;q13) found in related lesions, such as giant cell fibroblastoma and solitary fibrous tumor, none of which has a specific chromosomal abnormality. Our case is the second case of GCA with chromosomal aberrations. To the best of our knowledge, this is the first case of GCA with t(12;17) occurring as an extra-orbital mass.

摘要

我们报告一例43岁男性患者，其于7年前出现颈部巨大软组织肿块。根据光镜检查和免疫组化研究诊断为巨细胞血管纤维瘤（GCA）。染色体分析显示，在所有分析的20个细胞中，核型为男性，存在t(12;17)(q15;q23)、del(18)(q21)。GCA中的这种细胞遗传学异常不同于在相关病变（如巨细胞成纤维细胞瘤和孤立性纤维性肿瘤）中发现的t(17;22)(q22;q13)，这些相关病变均无特定的染色体异常。我们的病例是第二例有染色体畸变的GCA。据我们所知，这是第一例发生于眶外肿块的伴有t(12;17)的GCA。