Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Apr;34(4):343–345. doi: 10.1136/jmg.34.4.343

Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.

P R Hoban 1, R L Cowen 1, E L Mitchell 1, D G Evans 1, M Kelly 1, P J Howard 1, J Heighway 1
PMCID: PMC1050926  PMID: 9138163

Abstract

A 6 month old boy presented with bilateral Wilms' tumour. Cytogenetic analysis of the lymphocytes from the patient showed a de novo balanced translocation t(5;6)(q21;q21), which was also present in the tumour material as the sole cytogenetic abnormality. To facilitate the identification of the translocation breakpoints, we have established a lymphoblastoid cell line (MA214L) from the patient which maintains the translocation in culture. We have used Genethon microsatellite markers as sequence tagged sites (STSs) to isolate yeast artificial chromosome (YAC) clones to 5q and 6q from human genomic libraries. Using fluorescence in situ hybridisation (FISH) on metaphase preparations of MA214L, we have physically defined the translocation breakpoints between YAC clones on each chromosome arm. The genetic distance separating the flanking YACs on 6q21 is 3 cM, while that on 5q21 is 4 cM. To date this is the first report of these chromosomal regions being implicated in Wilms' tumourigenesis.

Full text

PDF
343

Images in this article

344Image
on p.344
344Image
on p.344

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Breslow N. E., Beckwith J. B. Epidemiological features of Wilms' tumor: results of the National Wilms' Tumor Study. J Natl Cancer Inst. 1982 Mar;68(3):429–436. [PubMed] [Google Scholar]
  2. Call K. M., Glaser T., Ito C. Y., Buckler A. J., Pelletier J., Haber D. A., Rose E. A., Kral A., Yeger H., Lewis W. H. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell. 1990 Feb 9;60(3):509–520. doi: 10.1016/0092-8674(90)90601-a. [DOI] [PubMed] [Google Scholar]
  3. D'Amico D., Carbone D. P., Johnson B. E., Meltzer S. J., Minna J. D. Polymorphic sites within the MCC and APC loci reveal very frequent loss of heterozygosity in human small cell lung cancer. Cancer Res. 1992 Apr 1;52(7):1996–1999. [PubMed] [Google Scholar]
  4. Green E. D., Olson M. V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci U S A. 1990 Feb;87(3):1213–1217. doi: 10.1073/pnas.87.3.1213. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  6. Hastie N. D. The genetics of Wilms' tumor--a case of disrupted development. Annu Rev Genet. 1994;28:523–558. doi: 10.1146/annurev.ge.28.120194.002515. [DOI] [PubMed] [Google Scholar]
  7. Horii A., Nakatsuru S., Miyoshi Y., Ichii S., Nagase H., Kato Y., Yanagisawa A., Nakamura Y. The APC gene, responsible for familial adenomatous polyposis, is mutated in human gastric cancer. Cancer Res. 1992 Jun 1;52(11):3231–3233. [PubMed] [Google Scholar]
  8. Mitchell E. L., Jones D., White G. R., Varley J. M., Santibanez Koref M. F. Determination of the gene order of the three loci CD2, NGFB, and NRAS at human chromosome band 1p13 and refinement of their localisation at the subband level by fluorescence in situ hybridisation. Cytogenet Cell Genet. 1995;70(3-4):183–185. doi: 10.1159/000134028. [DOI] [PubMed] [Google Scholar]
  9. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet. 1986 Aug;73(4):320–326. doi: 10.1007/BF00279094. [DOI] [PubMed] [Google Scholar]
  10. Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., Koyama K., Utsunomiya J., Baba S., Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991 Aug 9;253(5020):665–669. doi: 10.1126/science.1651563. [DOI] [PubMed] [Google Scholar]
  11. Rabbitts T. H. Chromosomal translocations in human cancer. Nature. 1994 Nov 10;372(6502):143–149. doi: 10.1038/372143a0. [DOI] [PubMed] [Google Scholar]
  12. Rahman N., Arbour L., Tonin P., Renshaw J., Pelletier J., Baruchel S., Pritchard-Jones K., Stratton M. R., Narod S. A. Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nat Genet. 1996 Aug;13(4):461–463. doi: 10.1038/ng0896-461. [DOI] [PubMed] [Google Scholar]
  13. Saito S., Saito H., Koi S., Sagae S., Kudo R., Saito J., Noda K., Nakamura Y. Fine-scale deletion mapping of the distal long arm of chromosome 6 in 70 human ovarian cancers. Cancer Res. 1992 Oct 15;52(20):5815–5817. [PubMed] [Google Scholar]
  14. Sandhu A. K., Kaur G. P., Reddy D. E., Rane N. S., Athwal R. S. A gene on 6q 14-21 restores senescence to immortal ovarian tumor cells. Oncogene. 1996 Jan 18;12(2):247–252. [PubMed] [Google Scholar]
  15. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
  16. Sheng Z. M., Marchetti A., Buttitta F., Champeme M. H., Campani D., Bistocchi M., Lidereau R., Callahan R. Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas. Br J Cancer. 1996 Jan;73(2):144–147. doi: 10.1038/bjc.1996.27. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Thrash-Bingham C. A., Salazar H., Freed J. J., Greenberg R. E., Tartof K. D. Genomic alterations and instabilities in renal cell carcinomas and their relationship to tumor pathology. Cancer Res. 1995 Dec 15;55(24):6189–6195. [PubMed] [Google Scholar]
  18. Wilmore H. P., White G. F., Howell R. T., Brown K. W. Germline and somatic abnormalities of chromosome 7 in Wilms' tumor. Cancer Genet Cytogenet. 1994 Oct 15;77(2):93–98. doi: 10.1016/0165-4608(94)90221-6. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES