Wilms' tumor causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Causes
Wilms tumor is the most common form of childhood kidney cancer. The exact cause of this tumor in most children is unknown.
Molecular biology
Mutations of the WT1 gene on chromosome 11 are observed in approximately 20% of Wilms' tumors.[1][2] At least half of the Wilms' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin.[3]
A gene on the X chromosome, WTX, is inactivated in up to 30% of Wilms' tumor cases, according to research published in 2007.[4]
Associated Syndromes
It is commonly associated with the following three syndromes:-
1) Denys-Drash syndrome is a syndrome with a very high risk of Wilms’ tumor (upto 90%). Other features of this syndrome are gonadal dysgenesis and renal mesangial sclerosis which leads to renal failure in the first few years of life.
2) WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of thekidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Retardation. [5]
The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumours of the gonads (testes or ovaries). [6]
3) Beckwith–Wiedemann syndrome (pron.: /ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth disorder usually (but not always) present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr. Hans-Rudolf Wiedemann coined the term exomphalos-macroglossia-gigantism (EMG) syndrome to describe the combination of congenitalabdominal wall defects as hernia (exomphalos), large tongues (macroglossia), and large bodies and/or long limbs (gigantism). Over time, this constellation was renamed Beckwith–Wiedemann syndrome following the autoptical observations of Prof. John Bruce Beckwith, who observed also severe increase in the size of the adrenal glands in some of these patients. Five common features used to define BWS are: macroglossia, macrosomia (birth weight and length greater than the 90th percentile), midline abdominal wall defects (omphalocele/exomphalos, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth).
4)Sotos syndrome
References
- ↑ Call K, Glaser T, Ito C, Buckler A, Pelletier J, Haber D, Rose E, Kral A, Yeger H, Lewis W (1990). "Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus". Cell. 60 (3): 509–20. PMID 2154335.
- ↑ Huff V (1998). "Wilms tumor genetics". Am J Med Genet. 79 (4): 260–7. PMID 9781905.
- ↑ Maiti S, Alam R, Amos CI, Huff V (2000). "Frequent association of beta-catenin and WT1 mutations in Wilms tumors". Cancer Res. 60 (22): 6288–92. PMID 11103785.
- ↑ Rivera M, Kim W, Wells J, Driscoll D, Brannigan B, Han M, Kim J, Feinberg A, Gerald W, Vargas S, Chin L, Iafrate A, Bell D, Haber D (2007). "An X chromosome gene, WTX, is commonly inactivated in Wilms tumor". Science. 315 (5812): 642–5. PMID 17204608.
- ↑ Kumar, V., Abbas, A. K., Fausto, N., Aster, J. C. (2010), Robbins and Cotran Pathologic Basis of Disease-Eighth Edition. Saunders Elsevier.
- ↑ ^ a b Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics 116 (4): 984–8. doi:10.1542/peds.2004-0467.PMID 16199712.
- ↑ Clericuzio CL (2004). "WAGR syndrome". In Cassidy SB, Allanson JE. Management of Genetic Syndromes (2nd ed.). New York, NY: John Wiley & Sons. ISBN 0-471-30870-6.
- ↑ DeBaun MR, Tucker MA (March 1998). "Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry". The Journal of pediatrics 132 (3 Pt 1): 398–400. doi:10.1016/S0022-3476(98)70008-3.PMID 9544889.