Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

[aniridia]

Newborn sporadic aniridia patients with an 11 p 13 deletion including the WT 1 gene have an increased risk to develop Wilms tumor . At present a risk for Wilms tumor can not be estimated in patients with deletions not extending into , but ending close to WT 1 . Therefore , it is important to determine the distance of deletion endpoints from the WT 1 gene and survey these patients for a longer follow-up time to obtain a more defined risk estimation . Using molecular methods , such as Multiplex Ligation-dependent Probe Amplification (MLPA ), deletion endpoints can be mapped more accurately than with FISH . We describe here the analysis of six aniridia patients , in two of these the deletions extend close to the 3 ' end of WT 1 . At the ages of 3 .8 and 4 years they have not developed a Wilms tumor , suggesting a low tumor risk in such patients . In addition we have studied 24 non-AN cases with a higher likelihood for WT 1 alterations with MLPA and found no deletions . In conclusion newborns with aniridia should be studied with molecular methods that can determine deletion endpoints in 11 p 13 exactly . For a better Wilms tumor risk estimation cases with deletion endpoints close to WT 1 should be followed for at least 4 -5 years . Furthermore germ line intragenic deletions affecting WT 1 in patients with a higher likelihood for a WT 1 association , for example , bilateral tumors , genitourinary aberrations , or nephrotic syndrome , were not found in this study , suggesting that deletions are rare events .

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aniridia

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