Halbwedl Iris, Ullmann Reinhard, Kremser Marie-Luise, Man Yan Gao, Isadi-Moud Narges, Lax Sigurd, Denk Helmut, Popper Helmut H, Tavassoli Fattaneh A, Moinfar Farid
Department of Pathology, Medical University of Graz, Auenbruggerplatz 25, A-8036 Graz, Austria.
Gynecol Oncol. 2005 May;97(2):582-7. doi: 10.1016/j.ygyno.2005.01.002.
Endometrial stromal sarcomas (ESS) are very rare neoplasms constituting less than 0.5% of all malignant uterine tumors. The aim of the present study was to characterize the karyotypic abnormalities in these malignant mesenchymal tumors and to find specific chromosomal aberrations with eventual correlation with histologic grades.
Twelve cases of endometrial stromal sarcomas consisting of nine low-grade ESS and three undifferentiated endometrial sarcomas (UES) were investigated by comparative genomic hybridization (CGH).
Ten of the twelve cases (83.3%) displayed chromosomal gains or losses. Deletions occurred more frequently than gains (63.4% versus 36.6%). In low-grade ESS, gains on 1, 6q, 9q, 16p, 19, 20q, 22q and losses on 2, 4q, 6, 7, 11q, 13q, 15q, 16q, 20p, X were detected. CGH with UES exhibited gains on 2q, 4q, 6q, 7p, 9q, 20q and losses on 3q, 10p, 14q. One low-grade ESS and one UES did not reveal any chromosomal aberration.
Chromosomal aberrations in endometrial sarcomas are heterogeneous and do not clearly correlate with the histologic grades. There is no increased accumulation of aberrations from low-grade ESS to UES. Despite the karyotypic variations, chromosomal deletion on 7p was the most common finding (55.6%) in low-grade ESS and may play a role in tumor development and progression.
子宫内膜间质肉瘤（ESS）是非常罕见的肿瘤，占所有子宫恶性肿瘤的比例不到0.5%。本研究的目的是描述这些恶性间叶性肿瘤的核型异常，并找出与组织学分级最终相关的特定染色体畸变。
通过比较基因组杂交（CGH）研究了12例子宫内膜间质肉瘤，其中包括9例低级别ESS和3例未分化子宫内膜肉瘤（UES）。
12例病例中有10例（83.3%）显示染色体增加或缺失。缺失比增加更常见（63.4%对36.6%）。在低级别ESS中，检测到1、6q、9q、16p、19、20q、22q染色体增加，以及2、4q、6、7、11q、13q、15q、16q、20p、X染色体缺失。UES的CGH显示2q、4q、6q、7p、9q、20q染色体增加，3q、10p、14q染色体缺失。1例低级别ESS和1例UES未显示任何染色体畸变。
子宫内膜肉瘤的染色体畸变是异质性的，与组织学分级没有明显相关性。从低级别ESS到UES没有增加的畸变积累。尽管核型存在差异，但7p染色体缺失是低级别ESS中最常见的发现（55.6%），可能在肿瘤发生和进展中起作用。
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