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Isochromosome 12p-positive Pineal Germ Cell Tumor¹

Departments of Medicine and Endocrinology [T. W. A. d. B.] and Pathology [G. J.], University of Utrecht, 3508 GA Utrecht, the Netherlands; Institute of Human Genetics, University of Amsterdam [R. M. S, R. D.], 1105 AZ Amsterdam, the Netherlands; Department of Human Genetics, University Hospital Nijmegen [A. G. v. K., R. F. S.], 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, University of Groningen [B. d. J.], 9713 EZ Groningen, the Netherlands; and Dr. Daniel den Hoed Cancer Center [J. W. O.], 3075 EA Rotterdam, the Netherlands

We report the chromosomal characteristics of a recurrent pineal nonseminomatous germ cell tumor in a 16-year-old male patient. This nonseminomatous tumor had the following components: embryonal carcinoma, teratoma, yolk sac tumor, and trophoblastic giant cells. Chromosome analysis showed a near-triploid karyotype (64 chromosomes), including two copies of an isochromosome 12p. This latter finding could be confirmed using 12p-specific competitive in situ hybridization techniques applied to cultured cells (T2219-P6 cell line) derived from the tumor. The present findings are in keeping with the hypothesis that isochromosome 12p formation is associated with the development of malignant extragonadal germ cell tumors.

¹ This work was supported in part by the Dutch Cancer Society (Koningin Wilhelmina Fonds).

² To whom requests for reprints should be addressed, at Department of Medicine, University Hospital G02.228, P.O. Box 85.500, 3508 GA Utrecht, the Netherlands.

³ Present address: Istituto di Biologia e Genetica, Universita degli Studi di Genova, Viale Benedetto XV, 6, 16132 Genova, Italy.

Received 8/ 5/93. Accepted 1/14/94.

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