Top

Published in:

01-02-2006 | Case Report

Nephroblastomatosis and loss of WT1 expression associated with trisomy 13

Authors: Frank Traub, Karin Sickmann, Mathewos Tessema, Ludwig Wilkens, Hans H. Kreipe, Kenji Kamino

Published in: Virchows Archiv | Issue 2/2006

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.

Charles AK, Brown KW, Berry PJ (1998) Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development. Am J Pathol 153(3):991–1000PubMed

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):674–678PubMedCrossRef

Hennigar RA, O'Shea PA, Grattan-Smith JD (2001) Clinicopathologic features of nephrogenic rests and nephroblastomatosis. Adv Anat Pathol 8(5):276–289CrossRefPubMed

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):20715–20720CrossRefPubMed

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 103:73–75PubMed

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):1855–1864PubMed

Miller RW, Fraument JF Jr, Manning MD (1964) Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 270:922–927PubMedCrossRef

Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP (1960) Multiple congenital anomaly caused by an extra autosome. Lancet 9:790–793CrossRef

10.

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):258–260CrossRefPubMed

11.

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):2005–2014PubMed

12.

Strong LC (2003) The two-hit model for Wilms' tumor: where are we 30 years later? Genes Chromosomes Cancer 38(4):294–299CrossRefPubMed

13.

Sweeney H, Pelegano J (2000) Wilms tumor in a child with trisomy 13. J Pediatr Hematol Oncol 22(2):171–172CrossRefPubMed

14.

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):499–507PubMed

15.

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):143–150CrossRefPubMed

16.

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)

Title: Nephroblastomatosis and loss of WT1 expression associated with trisomy 13
Authors: Frank Traub
Karin Sickmann
Mathewos Tessema
Ludwig Wilkens
Hans H. Kreipe
Kenji Kamino
Publication date: 01-02-2006
Publisher: Springer-Verlag
Published in: Virchows Archiv / Issue 2/2006
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-005-0067-3

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Nephroblastomatosis and loss of WT1 expression associated with trisomy 13

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2006

Current practice of Gleason grading of prostate carcinoma

Diagnostic histopathology of breast disease at Hammersmith Hospital (Imperial College), London, UK

Salivary hybrid tumour: adenoid cystic carcinoma and basal cell adenocarcinoma

Spindle cell tumours of the pleura: a clinical, histological and comparative genomic hybridization analysis of 14 cases

In situ glomerular expression of activated NF-κB in human lupus nephritis and other non-proliferative proteinuric glomerulopathy

Growth pattern and distribution of follicular dendritic cells in mantle cell lymphoma: a clinicopathological study of 96 patients