Cytogenetic Characterization of a Periampullary Adenocarcinoma of the Pancreas, its Liver Metastasis, and a Cell Line Established from the Metastasis in a Patient with Gardner's Syndrome Georgia Bardi, Pierre t~nan, Bertil Johansson, Nikos Pandis, Nils Mandahl, Elisabeth Bak-Jensen, Anders Bj6rkman, Hans Olof Sj6gren, ]kke Andr~n-Sandberg, Felix Mitelman, and Sverre Heim ABSTRACT: A cell line was established from a liver metastasis of a periampullary pancreatic carcinoma in a patient with Gardner's syndrome. The primary tumor, the liver metastasis, and passages 6 and 15 of the cell line were characterized cytogenetically. The only aberration common to all samples was a der(15)t(8;15) ; this was probably the primary chromosomal abnormality. Loss of the short arm of chromo- some 19 was also found in all samples but was brought about by different aberrations in the primary tu- mor and the metastasis. The secondary aberrations characteristic of clonal evolution often included fur- ther gain of 8q material but losses from lp, 6q, and chromosomes 17 and 18, all of which have been seen before in sporadic pancreatic and colorectal carcinomas. This is the first cell line established from a tu- mor in a Gardner's syndrome patient and also the first characterization of an abnormal tumor karyotype associated with this autosomal dominant cancer syndrome. INTRODUCTION In the early 1950s, Gardner and Richards described a variety of extraintestinal manifestations- epidermoid cysts, fibromas, and osteomas- in patients with adenomatous polyps of the colon [1]. Among the tumorous lesions later reported to be associated with Gardner's syndrome are various fibromatoses, dental abnormalities, gastric and small intestine polyps and carcinomas, lymphoid hyperplasia of the terminal ileum, and tumors of the hepatobiliary and endocrine systems [2, 3]. Also periampullary carcinoma of the pancreas has been described in patients with familial polyposis coli often enough to be accepted as one of the extracolonic manifestations of Gard- ner's syndrome [4, 5]. Whereas the incidence of periampul- lary malignancy in the general population has been estimated From the Departments of Clinical Genetics (G. B., P. .4., B. J., N~ P., N. M., A. B., F. M., S. H.), Pathology (E. B.-].), and Surgery (A. A.-S.), University Hospital, Lund, Sweden; the Department of Tumor Immunology (H. O. S.), Wallenberg Laboratory, University of Lund, Lund, Sweden; and the Department of Medical Genetics (G. B., N. P., S. H.), Odense University, Odense, Denmark. Address reprint requests to: Dr. Georgia Bardi, Department of Medical Genetics, Odense University, Winsl4wparken 15, 5000 Odense C, Denmark. Received September 14, 1993; accepted December 17, 1993. © 1994 Elsevier Science Inc. 655 Avenue of the Americas, New York, NY 10010 at 0.01-0.04% and the mean age of the patients is over 60 years, the prevalence of periampullary malignancy has been found to be 2.9 %, at a mean age of 52 years, in a series of polyposis patients [6]. Although cytogenetic characterization of the neoplastic cells might be a useful step towards obtaining a better un- derstanding of the essential pathogenetic events of heredi- tary colorectal cancers, the chromosomal profiles of these tumors are largely unknown [7]. In this report we compare the karyotypic features of a periampullary carcinoma in a Gardner's syndrome patient with the karyotypes of a liver metastasis from it and a cell line established from the metasta- sis. To our knowledge, this is the first cell line established from a periampullary carcinoma in a patient with Gardner's syndrome. MATERIAI~ AND METHODS Tumor Material and Histopathology In 1972, an otherwise healthy 36-year-old woman underwent total colectomy because of extensive polyposis coll. Gard- ner's syndrome had first been detected in her mother and sub- sequently in the patient, in one of her brothers, and in two of her sisters. In 1982, she was cholecystectomized because 29 Cancer Genet Cytogenet 76:29-32 (1994) 0165-4608/94/$07.00