Institute of Pathology, Division of Surgical Oncology and Thoracic Surgery, University Medical Centre Mannheim, University of Heidelberg, D-68135 Mannheim, Germany.
Am J Pathol. 2010 Jan;176(1):34-9. doi: 10.2353/ajpath.2010.090637. Epub 2009 Dec 11.
Angiosarcomas (AS) are rare vascular malignancies that arise either de novo as primary tumors or secondary to irradiation or chronic lymphedema. The cytogenetics of angiosarcomas are poorly characterized. We applied array-comparative genomic hybridization as a screening method to identify recurrent alterations in 22 cases. Recurrent genetic alterations were identified only in secondary but not in primary AS. The most frequent recurrent alterations were high level amplifications on chromosome 8q24.21 (50%), followed by 10p12.33 (33%) and 5q35.3 (11%). Fluorescence in situ hybridization analysis in 28 primary and 33 secondary angiosarcomas (31 tumors secondary to irradiation, 2 tumors secondary to chronic lymphedema) confirmed high level amplification of MYC on chromosome 8q24.21 as a recurrent genetic alteration found exclusively in 55% of AS secondary to irradiation or chronic lymphedema, but not in primary AS. Amplification of MYC did not predispose to high grade morphology or increased cell turnover. In conclusion, despite their identical morphology, secondary AS are genetically different from primary AS and are characterized by a high frequency of high level amplifications of MYC. This finding may have implications both for the diagnosis and treatment of these tumors.
血管肉瘤（AS）是一种罕见的血管恶性肿瘤，可分为原发性肿瘤或继发于放疗或慢性淋巴水肿。AS 的细胞遗传学特征较差。我们应用阵列比较基因组杂交作为筛选方法，以确定 22 例中的反复改变。仅在继发性而非原发性 AS 中发现反复的遗传改变。最常见的反复改变是 8q24.21 染色体上的高水平扩增（50%），其次是 10p12.33（33%）和 5q35.3（11%）。在 28 例原发性和 33 例继发性血管肉瘤（31 例继发于放疗，2 例继发于慢性淋巴水肿）中进行荧光原位杂交分析证实，8q24.21 染色体上 MYC 的高水平扩增是一种反复出现的遗传改变，仅在 55%继发于放疗或慢性淋巴水肿的 AS 中发现，而不在原发性 AS 中发现。MYC 的扩增并没有导致高级形态或增加细胞周转率。总之，尽管继发性 AS 具有相同的形态，但在遗传学上与原发性 AS 不同，其特征是 MYC 的高水平扩增频率很高。这一发现可能对这些肿瘤的诊断和治疗都有影响。
