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Department of Medical Genetics, Haartman Institute, P. O. Box 21, FIN-00014 University of Helsinki, Finland [W. E-R., S. K.]; Department of Human Genetics, National Research Center, Dokki, Cairo, Egypt [W. E-R.]; Department of Pathology, University of Helsinki, Finland [M. S-R., L. C. A.]; Department of Pathology, Anatomy, and Cell Biology, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania [M. M.]
The DNA copy number changes were investigated in 13 malignant, 3 borderline, and 16 benign gastrointestinal stromal tumors (GISTs) by comparative genomic hybridization. A consistent finding was the loss of DNA copy numbers in chromosome 14q. This was detected in 75% of the benign tumors, in 62% of the malignant tumors, and in two out of the three borderline tumors with a minimal overlapping region located to 14q22. Losses of DNA copy numbers were more frequent than gains, with 2–10 changes in malignant GISTs and 1–3 changes in benign tumors. High-level DNA amplifications, detected only in malignant GISTs, were assigned to 3q26–q29 (40%), 5p (30%), and 8q22–24 (40%). Our results indicate that copy number losses in 14q are an early change during oncogenesis of GISTs and suggest the possibility that a new tumor suppressor gene at 14q22 might be involved in the regulation of differentiation or proliferation of such mesenchymal cells.
1 To whom requests for reprints should be addressed, at Department of Medical Genetics, Haartman Institute, P. O. Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Finland. Phone: 358-0-434-6527; Fax: 358-0-434-6788; E-mail: sakari.knuutila@helsinki.fi.
Received 4/23/96. Accepted 5/29/96.
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