Molecular and Genetic Characterization of Diagnostically Challenging Uterine Smooth Muscle Neoplasms.
Bernadette Liegl, Karin Flicker, Fattaneh Tavassoli, Michael Speicher, Farid Moinfar. Medical University of Graz, Austria; Yale University School of Medicine, New Haven, CT
Background: Uterine smooth muscle neoplasms are a heterogeneous, partly diagnostically challenging group of tumors with benign, malignant and intermediate tumor subgroups. It is generally believed that uterine leiomyosarcomas (uLMS) arise de novo, rather than from a precursor lesion. However, recently it has been hypothesized that uLMS may arise from preexisting leiomyoma like areas, especially with cellular or atypical morphology. The aim of this study was to focus on the genetic aspects of diagnostically challenging smooth muscle tumors with special interest of atypical uterine leiomyomas (uLM) and uLMS.
Design: 16 uLM (of usual typ, hormonally treated, infracted), 11 atypical uLM and 15 uLMS were evaluated morphologically, immunohistochemically and by array CGH.
Results: As expected, copy number changes were rarely seen in uLM. The only recurrent aberration was loss of chromosome 19 material, which was observed in 7 out of 16 (44%) cases. In contrast, in atypical uLM the number of copy number changes increased significantly involving almost all chromosomes. The most frequent changes (>35%) included gains on chromosomes 1q, 11q, 16p and 17q and a loss of material on chromosome 13q. In uLMS there was a further increase of copy number changes. Here frequent alterations included losses on 1p, 3p, 6p, 10q, 13q, 14q and 16q, and gains of 1q, 11q and 17p.
Conclusions: By comparing three morphologic different uterine smooth muscle tumors we observed a continuous increase of copy number changes from uLM to atypical uLM and uLMS. Between the group of atypical uLM and uLMS several overlapping copy number changes were identified. This suggests that similar or identical pathways may be involved in the evolution of these tumors.
Category: Gynecologic & Obstetrics
Wednesday, March 2, 2011 1:00 PM
Poster Session VI # 186, Wednesday Afternoon