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(American Journal of Pathology. 1998;153:985-990.)
© 1998 American Society for Investigative Pathology

Regular Articles

DNA Copy Number Changes in Development and Progression in Leiomyosarcomas of Soft Tissues

Wa'el El-Rifai* , Maarit Sarlomo-Rikala , Sakari Knuutila*§ and Markku Miettinen¶

From the Departments of Medical Genetics* and Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Human Genetics, National Research Center, Cairo, Egypt; Laboratory of Medical Genetics,§ Helsinki University Central Hospital, Helsinki, Finland; and the Department of Soft Tissue Pathology,¶ Armed Forces Institute of Pathology, Washington, DC

DNA copy number changes were investigated in 29 leiomyosarcomas by comparative genomic hybridization. The most frequent losses were detected in 10q (20 cases, 69%) and 13q (17 cases, 59%). The most frequent gains were detected in 17p (16 cases, 55%). The most frequent high-level amplifications were detected in 17p (7 cases, 24%) and 8q (6 cases, 21%). A total of 137 losses and 204 gains were detected. Small tumors (less than 5 cm in diameter) displayed fewer changes per sample (3 to 11; mean, 7) than the other tumors (4 to 22; mean, 13). There was an increase in the number of gains from small tumors (mean, 4) to very large tumors (>20 cm; mean, 10). However, the number of losses was similar in small, large, and very large tumors (mean, 4.5). Tumor size-related aberrations were observed. Gains in 16p were detected in all small tumors but were infrequent in large and very large tumors (27% and 11%, respectively). Similarly, gains and high-level amplifications in 17p were more common in small (80%) than in very large tumors (33%). Gains in 1q, 5p, 6q, and 8q were not seen in any of the small tumors but were detected in large and very large tumors. Gains in 6q and 8q occurred in 8 of 9 cases (89%) of very large tumors, 5 of them with a high-level amplification in 8q.

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