Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 105-109

  Punnett, Angela ^a   Teshima, Ikuko ^a   Heon, Elise ^a   Budning, Andrew ^a   Sutherland, Joanne ^a   Gallie, Brenda L ^b   Chan, Helen S L ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Insertional translocation of 13q14 into 11p13; RB1 gene; Retinoblastoma; Wilms' tumor; WT1 gene

Indexed keywords

ARTICLE; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CASE REPORT; CHILDHOOD CANCER; CHROMOSOME 11P; CHROMOSOME 13Q; CHROMOSOME TRANSLOCATION; CYTOGENETICS; EYE TUMOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; KARYOTYPE; NEPHROBLASTOMA; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RB1 GENE; RETINOBLASTOMA; TUMOR SUPPRESSOR GENE;

EID: 0042322704     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20116     Document Type: Article

References (32)

1. Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. 1999. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 55:478-482.
2. Bernstein L, Linet M, Smith MA, Olshan AF. 1999. Renal tumors. In: Ries LAG, Smith MA, Gurney JG, Linet M, Tamra T, Young JL, Bunin GR, editors. Cancer incidence and survival among children and adolescents: United States SEER Program 1975-1995, SEER Program. Bethesda, MD: National Cancer Institute, SEER Program, NIH Pub No 99-4699. p 79-90.
3. Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond D. 1989. Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 81:370-374.
4. Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL. 1983. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305: 779-784.
5. Chen D, Pajovic S, Duckett A, Brown VD, Squire JA, Gallie BL. 2002. Genomic amplification in retinoblastoma narrowed to 0.6 megabase on chromosome 6p containing a kinesin-like gene, RBKIN. Cancer Res 62(4):967-971.
6. Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V. 1997. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet 34: 207-212.
7. Diller L, Ghahremani M, Morgan J, Grundy P, Reeves C, Breslow N, Green D, Neuberg D, Pelletier J, Li FP. 1998. Constitutional WT1 mutations in Wilms' tumor patients. J Clin Oncol 16:3634-3640.
8. Dome JS, Coppes MJ. 2002. Recent advances in Wilms tumor genetics. Curr Opin Pediatr 14:5-11.
9. Gessler M, König A, Arden K, Grundy P, Orkin S, Sallan S, Peters C, Ruyle S, Mandell J, Li F, Cavenee W, Bruns G. 1994. Infrequent mutation of the WT1 gene in 77 Wilms' tumors. Hum Mutat 3:212-222.
10. Godbout R, Dryja TP, Squire J, Gallie BL, Phillips RA. 1983. Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature 304:451-453.
11. ISCN. 1995. An international system for human cytogenetic nomenclature. Mitelman F, editor. Basel: S Karger.
12. Kleinjan D-J, van Heyningen V. 1998. Position effect in human genetic disease. Hum Mol Genet 7:1611-1618.
13. Knudson AG, Jr. 1971. Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823.
14. Lavedan C, Barichard F, Azoulay M, Couillin P, Molina Gomez D, Nicolas H, Quack B, Rethore MO, Noel B, Junien C. 1989. Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13. Cytogenet Cell Genet 50:70-74.
15. McDonald JM, Douglass EC, Fisher R, Geiser CF, Krill CE, Strong LC, Virshup D, Huff V. 1998. Linkage of familial Wilms' tumor predisposition to chromosome 19 and a twolocus model for the etiology of familial tumors. Cancer Res 58:1387-1390.
16. Miller RW, Fraumeni JF, Manning MD. 1995. Association of Wilms tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 270:922-927.
17. Mitsuya K, Sui H, Meguro M, Kugoh H, Jinno Y, Niikawa N, Oshimura M. 1997. Paternal expression of WT1 in human fibroblasts and lymphocytes. Hum Mol Genet 6:2243-2246.
18. Motegi T, Kaga M, Yanagawa Y, Kadowaki H, Watanabe K, Inoue A, Komatsu M, Minoda K. 1983. A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. Hum Genet 64:160-162.
19. Narahara K, Kikkawa K, Kimira S, Kimoto H, Ogata M, Kasai R, Hamawaki M, Matsuoka K. 1984. Regional mapping of catalase and Wilms tumor-aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305-p1306. Human Genet 66:181-185.
20. Rahman N, Abidi F, Ford D, Arbour L, Rapley E, Tonin P, Barton D, Batcup G, Berry J, Cotter F, Davison V, Gerrard M, Gray E, Grundy R, Hanafy M, King D, Lewis I, Ridolfi Luethy A, Madlensky L, Mann J, O'Meara A, Oakhill T, Skolnick M, Strong L, Variend D, Narod S, Schwartz C, Pritchard-Jones K, Stratton MR. 1998. Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1. Hum Genet 103(5):547-556.
21. Riccardi VM, Sujansky E, Smith AC, Francke U. 1978. Chromosomal imbalance in the Aniridia-Wilms tumor association: 11p interstitial deletion. Pediatrics 61:604-610.
22. Riccardi VM, Mintz Hittner H, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrel R. 1979. Partial triplication and deletion of 13q: Study of a family presenting with bilateral retinoblastomas. Clin Genet 15:332-345.
23. Rivera H, Turleau C, de Grouchy J, Junien C, Despoisse S, Zucker JM. 1981. Retinoblastoma-del[13q14]: Report of two patients, one with a trisomic sib due to a maternal insertion. Gene-dosage effect for esterase D. Hum Genet 59:211-214.
24. Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. 1980. Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential. J Pediatr 96:47-50.
25. Sparkes RS, Muller H, Klisak I. 1979. Retinoblastoma with 13q-chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027-1029.
26. Strong LC, Riccardi VM, Ferrell RE, Sparkes RS. 1981. Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science 213:1501-1503.
27. Turleau C, de Grouchy J, Chavin-Colin F, Despoisses S, Leblanc A. 1983. Two cases of del[13q]-retinoblastoma and two cases of partial trisomy due to a familial insertion. Ann Genet 26:158-160.
28. Turleau C, de Grouchy J, Chavin-Colin F, Junien C, Seger J, Schlienger P, Leblanc A, Haye C. 1985. Cytogenetic forms of retinoblastoma: Their incidence in a survey of 66 patients. Cancer Genet Cytogenet 16:321-334.
29. Van Hemel JO, Eussen HJ. 2000. Interchromosomal insertions: Identification of five cases and a review. Hum Genet 107:415-432.
30. Varanasi R, Bardeesy N, Ghahremani M, Petruzzi MJ, Nowak N, Adam MA, Grundy P, Shows TB, Pelletier J. 1994. Fine structure analysis of the WT1 gene in sporadic Wilms tumors. Proc Natl Acad Sci USA 91:3554-3558.
31. Young SL, Jr., Smith MA, Roffers SD, Liff JM, Bunin GR. 1999. Retinoblastoma. In: Ries LAG, Smith MA, Gurney JG, Linet M, Tamra T, Young JL, Bunin GR, editors. Cancer incidence and survival among children and adolescents: United States SEER Program 1975-1995, SEER Program. Bethesda, MD: National Cancer Institute, SEER Program, NIH Pub No 99-4699. p 73-78.
32. Yunis JJ, Ramsay N. 1978. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 132:161-163.