Baumhoer Daniel, Gunawan Bastian, Becker Heinz, Füzesi László
Department of Gastroenterology and Endocrinology, University of Göttingen, 37099 Göttingen, Germany.
Gynecol Oncol. 2005 May;97(2):348-52. doi: 10.1016/j.ygyno.2004.12.046.
Angiosarcomas represent a heterogeneous group of malignant vascular tumors occurring in different anatomic sites. In the female breast, they account for less than 1% of all malignant tumors and mainly develop as secondary angiosarcomas after prior irradiation. Data on cytogenetic findings in angiosarcomas are scarce and up to now no characteristic primary aberrations have been established. We herein add molecular cytogenetic findings in another 4 angiosarcomas to 11 previously reported cases.
We investigated four angiosarcomas of the female breast (three primary angiosarcomas and one secondary tumor after irradiation for breast cancer) for DNA copy number changes using comparative genomic hybridization (CGH).
All angiosarcomas revealed aberrant karyotypes including multiple DNA copy number changes involving various chromosomes. Recurrent DNA copy number changes that occurred in at least two cases included gains at 1q, 7p, 7q, and 8q, as well as losses at 5q and 16q.
Angiosarcoma of the female breast represents a genetically heterogeneous tumor entity without a readily identifiable pattern of common chromosomal alterations. However, reviewing the cytogenetic literature on angiosarcomas of different sites, gains at 8q and 20p appear to emerge as the most frequent aberrations in at least a subset of these tumors.
血管肉瘤是一组异质性的恶性血管肿瘤,发生于不同解剖部位。在女性乳腺中,它们占所有恶性肿瘤的比例不到1%,主要在先前接受放疗后发展为继发性血管肉瘤。关于血管肉瘤细胞遗传学发现的数据稀少,到目前为止尚未确定特征性的原发性畸变。我们在此将另外4例血管肉瘤的分子细胞遗传学发现加入到之前报道的11例病例中。
我们使用比较基因组杂交(CGH)研究了4例女性乳腺血管肉瘤(3例原发性血管肉瘤和1例乳腺癌放疗后的继发性肿瘤)的DNA拷贝数变化。
所有血管肉瘤均显示核型异常,包括涉及各种染色体的多个DNA拷贝数变化。至少在2例中出现的反复DNA拷贝数变化包括1q、7p、7q和8q的增益,以及5q和16q的缺失。
女性乳腺血管肉瘤是一种基因异质性肿瘤实体,没有易于识别的常见染色体改变模式。然而,回顾不同部位血管肉瘤的细胞遗传学文献,8q和20p的增益似乎是这些肿瘤至少一部分亚组中最常见的畸变。