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Interstitial Deletion of Short Arm of Chromosome 11 Limited to Wilms' Tumor Cells in a Patient Without Aniridia1

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Interstitial Deletion of Short Arm of Chromosome 11 Limited to Wilms' Tumor Cells in a Patient Without Aniridia1 [CANCER RESEARCH 41, 4577-4578, November 1981] 0008-5472/81 /0041-OOOOS02.00 Interstitial Deletion of Short Arm of Chromosome 11 Limited to Wilms' Tumor Cells in a Patient without Aniridia1 Yasuhiko Kaneko,2 M. Gelida Egues, and Janet D. Rowley Department of Medicine, The Franklin McLean Memorial Research Institute, The University of Chicago. Chicago. Illinois 60637 ABSTRACT staining and with quinacrine, Giemsa, and reverse banding (12) tech niques. An interstitial deletion of the short arm of a chromosome 11 was found in Wilms' tumor cells of a patient without aniridia. CASE REPORT The chromosomes in her peripheral blood lymphocytes were normal. The karyotype of the tumor cells is similar to that The patient was a 26-month-old black girl who was admitted reported for the somatic cells of patients with aniridia-Wilms' to our hospital with hematuria and a tumor in the left abdomen. tumor association. We showed that the same cytogenetic She was the only child of young parents; there was no family change as that seen in patients with this condition, namely, an history of congenital anomaly or kidney disease. At the time of interstitial deletion of 11 p13, can occur in patients without admission, she had a firm tumor 13 cm below the left costal aniridia as a mutation that is confined to tumor cells. margin; no other abnormal physical findings were detected. An i.v. Pyelogram showed a left intrarenal mass suggesting a Wilms' tumor, and a left nephrectomy was performed. The INTRODUCTION tumor (blastemic predominant) extended into the pelvic fat, but The role of detectable chromosome changes in the genesis the regional lymph nodes were not involved. The patient's of cancer is the subject of continuing discussion. In a recent postoperative course was uneventful, and she is now being article (2), Cairns suggested that most human cancers are not treated with a 3-drug protocol including actinomycin D, vincris- caused by localized changes in the DNA sequence but are tine, and Adriamycin. more likely to be the result of large-scale gene rearrangements. Such rearrangements are often sufficiently large to produce RESULTS AND DISCUSSION alterations in chromosome structure which are visible in light microscopy. The association of Wilms' tumor in children with Of 20 peripheral blood cells examined, all had a normal sporadic aniridia was first noted by Miller ef al. (7). More female karyotype. On the other hand, of 30 cultured tumor recently, a consistent deletion of the short arm of chromosome cells, all had a partial deletion of the short arm of one chro 11 has been detected in unaffected cells, such as lymphocytes mosome 11. Judging from Q-banded chromosomes, the bright or skin fibroblasts, of patients with AWTA3 (8). Little information band 11 p14 was deleted, but the less bright band 11 p12 was is available on the karyotype of the malignant cells in Wilms' present (Fig. 1). From R-banded cbromosomes, the bands tumor. Slater and Bleeder-Wagemakers (13) have reported in 11 p11 and 11 p15 were present, but the band 11 p13 was an abstract that Wilms' tumor cells in 2 of 7 individuals without missing (Fig. 1). Thus, the breakpoints were in 11p13 and aniridia had a consistent change in 11 p; precise information 11p14. The chromosomes in our tumor cells were not as was not provided on the karyotype of the tumor cells or of the elongated as "prophase" chromosomes, although we used the peripheral lymphocytes in these patients. We now report the technique of Yunis (14). Therefore, we could not obtain more observation of an interstitial deletion in the short arm of chro precise information on the breakpoints from G-banded chro mosome 11 that was seen only in the Wilms' tumor cells of a mosomes. No other abnormalities were found. Thus, the kary patient without aniridia. otype of the tumor cells was similar to that reported for the somatic cells of patients with AWTA (8). MATERIALS AND METHODS The close association of the 11 p deletion with AWTA seems to be well established; although the karyotypes of these pa Chromosome studies were performed on peripheral blood lympho tients show deletions in various bands of 11 p, band 11 p13 is cytes stimulated with phytohemagglutinin and on tumor cells. The consistently absent from the somatic cells in each case. It has tumor was finely minced and was cultured in plastic flasks containing been postulated that the genes related to normal development CMRL 1066 medium with 5% horse serum, 10% fetal calf serum, and of the iris and the kidney were adjacent and that the deletion amino acids. The cells were harvested after primary culture for 10 eliminated both genes. An important question is whether, in days. The cultured lymphocytes and tumor cells were processed ac patients with Wilms' tumor without aniridia who have a normal cording to a technique developed by Yunis (14) which provides longer chromosomes. Chromosomes were analyzed with regular Giemsa karyotype in their somatic cells, a cytogenetic abnormality is present in the tumor cells. In this report, we showed that the ' This work was supported in part by Contract DE-AC02-80EV10360 from the same cytogenetic change as that seen in AWTA patients, United States Department of Energy and by Grant CA-19266 from the National namely, an interstitial deletion of 11 p13, can occur in patients Cancer Institute, Department of Health and Human Services. 2 To whom requests for reprints should be addressed, at Department of without aniridia as a mutation that is confined to tumor cells. Medicine, Box 420, The University of Chicago, 950 East 59th Street, Chicago, The situation in Wilms' tumor is analogous to that in retino- III. 60637. 3 The abbreviation used is: AWTA, aniridia-Wilms' tumor association. blastoma, another embryonic tumor; both tumors have a hered Received May 26. 1981; accepted August 4, 1981. itary (autosomal dominant) and a nonhereditary form (4, 5), NOVEMBER 1981 4577 Downloaded from cancerres.aacrjournals.org on September 23, 2021. © 1981 American Association for Cancer Research. Y. Kaneko et al. Specific chromosome changes, which, in Wilms' tumor and retinoblastoma, involve deletions of a small portion of a chro mosome, are intimately related to the development of particular human tumors. The data discussed here support earlier obser vations of consistent translocation in certain types of human leukemia (9-11) and in Burkitt's lymphoma (16). The mecha nism by which these chromosome changes influence the de velopment of malignant transformation is presently unknown. We assume that these specific translocations are associated with an alteration in gene function due to either the juxtaposi tion of genes which are otherwise under a different controlling mechanism or because the chromosome breaks that lead to the translocation occur in the site of the regulators of these genes. Deletions can also cause the loss of DMA with particular repressor functions. Thus, the alteration in the control of gene function that is associated with specific translocations or with deletions may be related to malignant transformation of human cells. ACKNOWLEDGMENTS We thank Dr. D. W. Shermeta of the Department of Surgery and Dr. J. Nachman of the Department of Pediatrics, The University of Chicago, for contrib uting samples for this study; and Pamela J. Jones and Susan Worin for secretarial assistance. REFERENCES 1. Balaban-Malenbaum. G., Gilbert. F., Nichols, W. W.. Hill, R., Shields, J., and Meadows, A. T. A deleted chromosome No. 13 in human retinoblastoma cells: relevance to tumorigenesis. Cancer Gent. Cytogenet., 3: 243-250, 1981. 2. Cairns, J. The origin of human cancers. Nature (Lond.), 289. 353-357, 1981. 3. Hashem, N.. and Khalifa, S. Retinoblastoma; a model of hereditary fragile chromosomal regions. Hum. Hered., 25. 35-49, 1975. Fig. 1. Q- and R-banded chromosome 11 pairs. The chromosomes in A and 4. Knudson, A. G. Mutation and cancer: statistical study of retinoblastoma. B were examined in 2 different lymphocytes, and those in C and D were examined Proc. Nati. Acad. Sei. U. S. A., 68: 820-823, 1971. in 2 different Wilms' tumor cells of the same patient. The chromosomes were 5. Knudson, A. G. Mutation and cancer: a model for Wilms' tumor of the kidney. examined sequentially with Q- and R-banding. Arrows indicate the deleted J. Nati. Cancer Inst., 48: 313-324, 1972. segment in 11p. which appears to be 11 p13—»11p14.Chromosomes in A and B 6. Knudson, A. G. Human cancer genes. In: F. E. Arrighi. P. N. Rao, and E. and those placed to the left in each pair in C and D are normal. Stubblefield (eds.), Genes. Chromosomes, and Neoplasia, pp. 453-462. New York: Raven Press, 1981. 7. Miller, R. W., Fraumeni. J. F., and Manning. M. D. Association of Wilms and both may be associated with a specific chromosome tumor with aniridia, hemihypertrophy and other congenital malformations. N. Engl. J. Med., 270. 922-927, 1964. change. Retinoblastoma occurs frequently in children who have 8. Riccardi. V. M., Sujansky, E., Smith, A. C., and Francke. U. Chromosomal a deletion of the long arm of a chromosome 13, including band imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics, 6?. 604-610, 1978. 13q14 (15); these patients usually have congenital anomalies 9. Rowley, J. D. A new consistent chromosomal abnormality in chronic my- and are mentally retarded. Hashem and Khalifa (3) found a elogenous leukemia identified by quinacrine fluorescence and Giemsa stain Dq—chromosome, which was thought to be a 13q—chromo ing. Nature (Lond.), 243. 290-293, 1973. 10. Rowley, J. D. Identification of a translocation with quinacrine fluorescence some, in unhanded tumor cells of 4 of 5 patients with retino- in a patient with acute leukemia.
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