Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: Amplification of 7q21-q31 and loss of 8p12-p21 in choriocarcinoma

Comparative genomic hybridization (CGH) was utilized to investigate genetic changes from archived cases of choriocarcinoma (n = 12) and hydatidiform m oles (n = 7). Test DNA was extracted from paraffin-embedded tissues, amplif ied using fetal universal PCR, and co-hybridized with control DNA to normal metaphases. Comparative genomic hybridization findings showed chromosomal imbalances in 9 of 12 cases of choriocarcinoma. By contrast all hydatidifor m moles showed normal CGH profiles. Consistent findings in choriocarcinoma included deletion at 8p (5 cases) and amplification at 7q (4 cases). A tumo r suppressor gene (e.g., N33) at 8p and/or a growth regulator at 7q could p lay ct role in the initiation of choriocarcinoma and its progression. This is the first study showing specific alterations in choriocarcinomas by CGH, and illustrates the utility of this technique in elucidating genetic chang es in gynecological tumors. (C) Elsevier Science Inc., 1999. All rights res erved.