Abstract

A series of adult testicular germ cell tumours consisting of eight seminomas, 14 non-seminomas (including two cell lines) and two combined tumours was analysed by comparative genomic hybridization and, in some cases, by interphase fluorescence in situ hybridization. The gain of 12p was identified in all cases and additional material from chromosomes 7 and 8 was found in over 70% of cases, in keeping with previous analyses. Other consistent regions of gain included 1q24-q31 (50%), 2p16-pter (41%), 2q22-q32 (45%) and Xq11-q21 (50%). The loss of 1p32-p36 (36%), 9q31-qter (36%), 11q14-qter (50%), 16p (36%) and 18p (45%) and the loss of material from chromosomes 4 and 5 (50% and 36% respectively) were also found in all histological subtypes. The loss of 1p material was confirmed in four cases by interphase FISH analysis and shown, with one exception, not to involve the loss of the D1Z2 locus at 1p36.3, which is commonly deleted in paediatric germ cell tumours. An association between gain of 6q21-q24 with cases resistant to chemotherapy (P < 0.01) was observed. In addition, loss of chromosome 19 and 22 material and gain of 5q14-q23, 6q21-q24 and 13q were found at a significantly lower frequency in seminoma than non-seminoma. These regions may contain genes involved in the divergent development of seminoma and non-seminoma.

Highlights

  • This study reports the comparative genomic hybridization (CGH) results from 20 testicular germ cell tumours (TGCT), detailed in Table 1, and two cell lines

  • This study has identified regions of the genome frequently gained and lost in a total of 22 samples derived from different subtypes of TGCT, including five cases resistant to

  • The present study shows that the D1Z2 locus is not commonly lost in the adult TGCT and larger regions of lp are lost than in the paediatric cases

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Summary

Methods

Tumours with a number less than 30 have been previously studied for microsatellite instability (Huddart et al, 1995). Samples 33 (SE) and 9, 13, 26 and 47 (NS) were received after chemotherapy. Normal tissue was trimmed from samples and the tumour was divided. Part of it was snap-frozen for DNA and tumour imprint preparation, and the remainder processed for histopathological examination by standard procedures. GCT27 and GCT44, two cell lines derived from NS tumours, were included in the study (Pera et al, 1987)

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