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Genomic characterization of endometrial stromal sarcomas with array comparative genomic hybridization
Karin Flicker1, Elisabeth Smolle2, Johannes Haybaeck2
1Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria.
Introduction:
The endometrial stromal sarcoma (ESS) is a very rare uterine sarcoma, counting for 1-3% of all gynecologic malignancies. ESS represents 0.2-8% of all uterine malignant tumors and accounts for about 10% of all uterine sarcomas. With regard to chromosomal aberrations, very little is known about benign and malignant endometrial stromal tumors.
Methods:
30 tumors, consisting of 4 cases of benign endometrial stromal nodule (ESN), 22 cases of low-grade ESS and 4 cases of undifferentiated endometrial sarcoma (UES), were analyzed by array-comparative genomic hybridization (aCGH).
Results:
ESN did not show many copy number changes (CNCs) by aCGH. Frequent losses could be identified on chromosomes 7p and 19, and gains on chromosomes 1q, 6p and 8q. Low-grade ESS presented as a very heterogeneous group. 90% (20/22) of cases displayed aberrations. Most frequent changes were losses on chromosomes 7 and 22, and gains on chromosome 1q or 11. UES showed a high number of chromosomal aberrations and on every chromosome CNCs were detected. Most frequent changes were losses on chromosomes 1q, 2q (3/4, 75%) and 13, and gains on chromosomes 1q and 17p.
Conclusion:
Our data shows an increasing number of CNCs from ESN to low-grade ESS and to UES. However, the chromosomal aberrations differ considerably between the investigated ESN-, low-grade ESS- and UES cases and thus, a linear tumor progression seems to be unlikely.
