Nephroblastoma
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Web Resources for Nephroblastoma
ICD 10 code: C64 (M8960/3)
Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Nephroblastoma (Less technical, good quality control)
Wikipedia on Nephroblastoma (Less technical, ? quality control)
Wilms tumour (nephroblastoma), a stem cell tumour, is the commonest (1 in 10,000) solid tumour of childhood and has multiple risk genetic mutations. These include:
- Wilms tumor-1 gene (WT1) at 11p13 which encodes a zinc finger DNA-binding protein - key permissive - about 20%
- CTNNB1 at 3p22-p21.3 in about half of these
- WTX (FAM123B, FLJ39827) at Xq11.1, a tumor suppressor - key permissive - about 30%[1]
- BRCA2 at 13q12.3 - key permissive
- Glypican-3 gene (GPC3) at Xq26 which encodes an extracellular proteoglycan with a role in embryonic growth control - key permissive
- MTACR1 (WT2) at 11p15.5
- WT3 at 16q which is autosomal dominant - key permissive
- WT4 (FWT1) at 17q12-q21 - key permissive
- POU6F2 (probably WT5) at 7p14-p13, a transcriptional regulator.
It is known, like several other solid tumours, to be associated with abnormal WNT/beta-catenin pathway activation[2].
History
Named after a case series published by the surgeon Max Wilms[3] it had been described earlier by William Osler amongst others and identified as a single pathology earlier[4].
Histology
The characteristic appearance is abortive tubules and glomeruli surrounded by spindled cell stroma. There may be rhabdomyoid differentiation.
References
- ↑ Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ, Bell DW, Haber DA. An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. Science (New York, N.Y.). 2007 Feb 2; 315(5812):642-5.(Link to article – subscription may be required.)
- ↑ Zirn B, Samans B, Wittmann S, Pietsch T, Leuschner I, Graf N, Gessler M. Target genes of the WNT/beta-catenin pathway in Wilms tumors. Genes, chromosomes & cancer. 2006 Jun; 45(6):565-74.(Link to article – subscription may be required.)
- ↑ M. Wilms. Die Mischgescwülste. I. Die Mischgescwülste der Niere. Leipzig, A Georgi, 1899
- ↑ F. V. Birch-Hirschfeld. Sarkomatöse Drüsengeschwülste der Niere im Kindesalter (Embryonales Adenosarcom). Beiträge zur pathologischen Anatomie und zur allgemeinen Pathologie, 1898, 24: 343-362.
