SHORT COMMUNICATION

Involvement of Band 3p14 in t(3;8) Hereditary Renal Carcinoma

Nancy Wang and Kathy L. Perkins

ABSTRACT: High resolution prometaphase G-banding analysis was applied to three translocation carriers from the t(3;8) hereditary renal cell carcinoma family. It was clearly illustrated that the chromosomal rearrangement is reciprocal with breakpoints occurring at the subbands 3p14.2 (instead of 3p21)and 8q24.1.

In the pedigree and genetic study of a family prone to renal cell carcinoma, Cohen et al. (1) reported the association of a t(3;8) with a predisposit ion for the neoplasia. The translocation was assumed to be reciprocal and the breakpoints were assigned to bands 8q24 and 3p21, respectively, by metaphase banding analysis. In order to better unders tand the nature of the chromosomal rearrangement, prometaphase (2) G-banding analysis was applied to the cultured lymphocytes of one male and two female translocation carriers from the family. The results obtained, as shown in Figure 1, indicate that the translocation is reciprocal and the breakpoints are at 8q24.1 and 3p14.2 (instead of 3p21), respectively. The diagnosis was based on the consistent f inding of: (a) the absence of light band 8q24.1 at the broken end of the chromosome 8q involved in the translocation; (b) the strong terminal band and longer length of the short arm of the chromosome 3p involved in the translocation. Of interest is that the band 8q24.1 has been consistently identified as the breakpoint for Burkitt 's lymphoma in various types of translocations, such as t(8;12), t(8;22), and t(2;8); also, the deletion of the band 3p14-23 has been reported by Whang-Peng et al. as the specific chromosomal defect associated with huma n small-cell lung cancer (3). Recently, Pathak et al. (4) studied a separate case of familial renal cell cancer and identified a t(3;11) in tumor cells from an individual with normal lym- phocyte chromosome composition. The results suggest the crucial role chromosome #3 played in the transformation of the neoplasia. Furthermore, our present study indicates that the p14 region on chromosome #3 is of particular interest.

The authors would like to thank Dr. Uta Francke at Yale University and Dr. S. Pathak at M.D. Anderson Hospital for reviewing the cytogenetic results of this study. They also wish to thank Dr. F. P. Li for providing the blood samples used for these analyses.

From the Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN.

Address requests for reprints to Nancy Wang, Ph.D., Department of pathology, School of Medicine, Tulane University, 1430 Tulane Avenue, New Orleans, LA 70112.

Received July 22, 1983; accepted August 30, 1983.

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© 1984 by Elsevier Science Publishing Co.. Inc. Cancer Genetics and Cytogenetics 11, 479481 (1984) 52 Vanderbilt Ave., New York, NY 10017 0165-4608/84/$03.00

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REFERENCES

1. Cohen AJ, Li FP, Berg S, Marchetto DJ, Tsai S, Jacobs SC, Brown RS (1979): Hereditary renal- cell carcinoma associated with a chromosomal translocation. N Engl J Med 301:592-5.

2. Johnson MP, Ramsay N, Cervenka J, Wang N (1982): Retinoblastoma and its association with a deletion in chromosome #13: A survey using high-resolution chromosome tech- niques. Cancer Genet Cyto Genet 6:29-37.

3. Whang-Peng J, Kao-Shan CS, Lee EC, Dunn PA, Carney DN, Gazdar AF, Minna JD (1982): Specific chromosome defect associated with human small-cell lung cancer: Deletion 3p (14-23). Science 215:181-182.

4. Pathak S, Strong LC, Ferrell RE, Trinidade A (1982): Familial renal cell carcinoma with a 3,11 chromosome translocation limited to tumor cells. Science 217:939-941.