Beckwith-Wiedemann syndrome-associated hepatoblastoma: Wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy

Pediatric and Developmental Pathology

Volumn 6, Issue 4, 2003, Pages 299-306

  Fukuzawa, Ryuji ^a,e   Hata, Jun Ichi ^b   Hayashi, Yutaka ^c   Ikeda, Hitoshi ^d   Reeve, Anthony E ^e  

^a KEIO UNIVERSITY   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

catenin; 18 trisomy; Genomic imprinting; Hepatoblastoma; Pancreatoblastoma; Uniparental disomy

Indexed keywords

BETA CATENIN; WNT PROTEIN;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CARCINOGENESIS; CASE REPORT; CHROMOSOME 11P; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HEPATOBLASTOMA; HEPATOMEGALY; HETEROZYGOSITY LOSS; HUMAN; NEWBORN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; UNIPARENTAL DISOMY;

AMINO ACID SUBSTITUTION; BECKWITH-WIEDEMANN SYNDROME; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; HEPATOBLASTOMA; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIVER NEOPLASMS; LOSS OF HETEROZYGOSITY; MUTATION; PROLINE; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; RNA, UNTRANSLATED; SERINE; SIGNAL TRANSDUCTION; UNIPARENTAL DISOMY; WNT PROTEINS; ZEBRAFISH PROTEINS;

EID: 0141427650     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10024-003-1009-1     Document Type: Article

References (20)

1. Cohen M. A comprehensive and critical assessment of overgrowth and overgrowth syndrome. Adv Hum Genet 1989;18:209-212.
2. Hark AT, Schoenherr CJ, Katz DJ, Ingram RS, Levorse JM, Tilghman SM. CTCF mediates methylation-sensitive enhancer-blocking activity at the H 19/Igf2 locus. Nature 2000;405:486-489.
3. Schneid H, Vazquez M, Seurin D, Bouc Y. Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome. Growth regulation 1991;1:168-170.
4. Fukuzawa R, Umezawa A, Morikawa Y, Kim KC, Nagai T, Hata J. Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting. Pediatr Dev Pathol 2001;4:381-390.
5. Henry I, Bonaiti-Pellie C, Chehensse V. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-667.
6. Eberhart CG, Argani P. Wnt signaling in human development: beta-catenin nuclear translocation in fetal lung, kidney, placenta, capillaries, adrenal, and cartilage. Pediatr Dev Pathol 2001;4:351-357.
7. Koch A, Denkhaus D, Albrecht S, Leuschner I, von Schweinitz D, Pietsch T. Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. Cancer Res 1999;59:269-273.
8. Koesters R, Ridder R. Kopp-Schneider A. Mutational activation of the beta-catenin proto-oncogene is a common event in the development of Wilms' tumors. Cancer Res 1999;59:3880-3882.
9. Abraham SC, Wu TT, Klimstra DS. Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas: frequent alterations in the APC/beta-catenin pathway and chromosome. 11p Am J Pathol 2001;159:1619-1627.
10. Charles AK, Brown KW, Berry PJ. Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development. Am J Pathol 1998;153:991-1000.
11. Hedborg F, Holmgren L, Sandstedt, Ohlsson R (1994) The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome. Am J Pathol 145:802-817
12. Fukuzawa R, Umezawa A, Ochi K, Urano F, Ikeda H, Hata J. High frequency of inactivation of the imprinted H 19 gene in "sporadic" hepatoblastoma. Int J Cancer 1999;2:90-497.
13. Itoh N, Becroft DM, Reeve AE, Morison IM. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome. Am J Med Genet 2000:2:11-116.
14. Chao L, Huff V, Tomlinson G, Riccard V, Strong L, Saunders G. Genetic mosaicism in normal tissue of Wilms' tumour patients. Nat Genet 1993;3:127-131.
15. Morali OG, Delmas V, Moore R, Jeanney C, Thiery JP, Larue L. IGF-II induces rapid beta-catenin relocation to the nucleus during epithelium to mesenchyme transition. Oncogene 2001;20:4942-4950.
16. Okamoto K, Morison I, Taniguchi T, Reeve A. Epigenetic changes at the insulin-like growth factor II/H19 Iocus in developing kidney is an early event in Wilms tumorigenesis. Proc Natl Acad Sci USA 1997;94:5367-5371.
17. Kerr NJ, Chun YH, Yun K, Heathcott RW, Reeve AE, Sullivan MJ. Pancreatoblastoma is associated with chromosome 11p loss of heterozygosity and IGF2 overexpression. Med Pediatr Oncol 2002;39:52-54.
18. Kerr NJ, Fukuzawa R, Reeve AE, Sullivan MJ. Beckwith-Wiedemann syndrome, pancreatoblastoma, and the Wnt signaling pathway. Am J Pathol 2002;60:541-1542.
19. Drut R, Jones MC. Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: an emerging association. Pediatr Pathol 1988;8:331-339.
20. Abraham SC, Wu TT, Hruban RH. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent alleic loss on chromosome 11p and alterations in the APC/β-catenin pathway. Am J Pathol 2001;160:953-962.