Abstract for presentation at 11th International Congress of Human Genetics

Leydig cell tumors of the testis: A molecular-cytogenetic study of 25 cases

  • David Horst, Institute of Pathology, Medical University of Innsbruck, Austria
  • A Höllrigl, Institute of Clinical Pathology, Medical University of Vienna, Austria
  • A Hartmann, Department of Pathology, University of Regensburg, Germany
  • H Rogatsch, Institute of Pathology, LKH Klagenfurt, Austria
  • G Mikuz, Institute of Pathology, Medical University of Innsbruck, Austria
  • I Verdorfer, Institute of Pathology, Medical University of Innsbruck, Austria

    • Leydig cell tumors (LCT) of the testis are rare and account for a small proportion of testicular neoplasms (3% of all testicular tumors). Most of LCT show benign behaviour, but about 10-15% of them are malignant. The genetic features of these uncommon tumors are largely unknown. Consequently it is of great importance to elucidate the pathogenesis of testicular germ cell cancers by cytogenetic and molecular biological investigations. This study comprised formalin-fixed, paraffin-wax embedded tissue samples from 25 Leydig cell tumors to analyse the chromosomal constitution using comparative genomic hybridization (CGH). In most of the studied cases the aberrant cell population was additionally defined by interphase-FISH. Our molecular-cytogenetic study indicates that the majority of LCT (20/25, 80%) showed chromosomal imbalances. The most frequent findings were gain of chromosome X, 19 or 19p and losses of 1/1p, 3, 8/8p, and 16/16p. CGH is a suitable method to give an in vivo genomic overview of these rare tumors, which can achieve practical importance in their diagnosis and prognosis.

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