Abstract
Trisomy 13 (Patau's syndrome) is a rare finding in newborns. The life span of babies affected by this chromosome abnormality is severely shortened, and multiple, partly severe malformations occur. In this study, we report on an unborn with trisomy 13 (artificially aborted on the 24th week) which showed, among other typical deformities, bilateral nephrogenic rests (nephroblastomatosis). Using molecular analysis, a loss of Wilms' tumor gene 1 (WT1) transcript and a biallelic expression of insulin growth factor 2 (IGF2) could be revealed. To our knowledge, this is the first reported case of trisomy 13 which showed this type of anomaly and gene expression findings.
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Charles AK, Brown KW, Berry PJ (1998) Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development. Am J Pathol 153(3):991–1000
Drummond IA, Madden SL, Rohwer-Nutter P, Bell GI, Sukhatme VP, Rauscher FJ III (1992) Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. Science 257(5070):674–678
Hennigar RA, O'Shea PA, Grattan-Smith JD (2001) Clinicopathologic features of nephrogenic rests and nephroblastomatosis. Adv Anat Pathol 8(5):276–289
Hu JF, Vu TH, Hoffman AR (1997) Genomic deletion of an imprint maintenance element abolishes imprinting of both insulin-like growth factor II and H19. J Biol Chem 272(33):20715–20720
Jones KL (1997) Trisomy 13 syndrome. In: Jones KJ (ed) Smith's recognizable patterns of human malformation, 5th edn. Saunders, Philadelphia, pp 18–19
Keshgegian AA, Chatten J (1979) Nodular renal blastema in trisomy 13. Arch Pathol Lab Med 103:73–75
Lehmann U, Glockner S, Kleeberger W, von Wasielewski HF, Kreipe H (2000) Detection of gene amplification in archival breast cancer specimens by laser-assisted microdissection and quantitative real-time polymerase chain reaction. Am J Pathol 156(6):1855–1864
Miller RW, Fraument JF Jr, Manning MD (1964) Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 270:922–927
Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP (1960) Multiple congenital anomaly caused by an extra autosome. Lancet 9:790–793
Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ (1985) Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature 317(6034):258–260
Schumacher V, Schuhen S, Sonner S, Weirich A, Leuschner I, Harms D, Licht J, Roberts S, Royer-Pokora B (2003) Two molecular subgroups of Wilms' tumors with or without WT1 mutations. Clin Cancer Res 9(6):2005–2014
Strong LC (2003) The two-hit model for Wilms' tumor: where are we 30 years later? Genes Chromosomes Cancer 38(4):294–299
Sweeney H, Pelegano J (2000) Wilms tumor in a child with trisomy 13. J Pediatr Hematol Oncol 22(2):171–172
Tessema M, Langer F, Bock O, Seltsam A, Hasemeier B, Kreipe H, Lehmann U (2005) Down-regulation of the IGF-2/H19 locus during normal and malignant hematopoiesis is independent of the imprinting pattern. Int J Oncol 26(2):499–507
Weksberg R, Shen DR, Fei YL, Song QL, Squire J (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith–Wiedemann syndrome. Nat Genet 5(2):143–150
Wilkens L, Gerr H, Gadzicki D, Kreipe H, Schlegelberger B (2005) Standardized fluorescence in situ hybridisation in cytological and histological specimens. Virchows Archiv (in press)
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Traub, F., Sickmann, K., Tessema, M. et al. Nephroblastomatosis and loss of WT1 expression associated with trisomy 13. Virchows Arch 448, 214–217 (2006). https://doi.org/10.1007/s00428-005-0067-3
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DOI: https://doi.org/10.1007/s00428-005-0067-3