Comparative genomic hybridization (CGH) was used to detect chromosomal gain
s and losses in a series of 90 frozen soft tissue primary tumors (STTs), al
l untreated. The material consisted of 69 malignant sarcomas, including 20
malignant fibrous histiocytomas (MFH), 23 liposarcomas (LPS), 6 leiomyosarc
omas (LMS), 4 synovial sarcomas, 4 primitive neuroectodermal tumors (PNETs)
, and various others subtypes, in addition to 21 benign tumors. Within the
benign tumors, only 2 of the 3 schwannomas showed genetic changes. In malig
nant sarcomas, genetic changes were detected in 64 of the 69 samples analyz
ed (92 %), with a mean of 4.5 per sample (range 0-10). Gains and losses on
chromosome 13 were observed in 32% of the sarcomas with genomic imbalance.
Recurring low-level copy number increases were found at new sites on chromo
somes 7 (6 MFH samples, 30%) and 8 (10 LPS samples, 43%), the minimal commo
n regions being 7p15-pter and 8q24. No new recurring high-level amplificati
ons were found. Surprisingly, losses of DNA sequences Mere more frequent th
an gains; particularly losses were the main feature in LMS, with highly rec
urrent common minimal losses at 11q14-qter and 13q21-q22 (4 samples, 66%, a
nd 5 samples, 83%, respectively). Losses of chromosome 2 sequences (minimal
common regions at 2p24-pter and 2q32-qter) were observed in 50% of the MFH
analyzed. New recurrent losses of whole or part of chromosome 14 Mere foun
d in 57% of the pleomorphic LPS (PLPS) analyzed. This study uncovers new cl
ues for the diagnosis of malignant STTs and shows the importance of deletio
ns as events in the early steps involved in the tumorigenesis of STTs. (C)
Elsevier Science Inc., 1999. AII rights reserved.