UroToday (KC) 10-Jul-08
From Kidney Cancer Resource
To Go To UroToday (KC)
Molecular Evidence of the Independent Origin of Multiple Wilms Tumors in a Case of WAGR
A study by Dr. Uccini, et al., evaluated the molecular evidence of the independent origin of multiple Wilms tumors in a patient who has WAGR syndrome. The paper was a description of the procedure, technique and its results. They had one patient who was 1 year of age. This child developed two synchronous bilateral Wilms tumors that were resected by partial nephrectomy. Histologically, these tumors were fetal rhabdomyomatous nephroblastomas. Immunohistochemical study revealed the absence of nuclear expression of WT1 protein, while beta catenin protein was expressed at nuclear level by the large majority of tumor cells present. Further investigations showed that the WT1 gene and exon 3 of beta-catenin gene had no mutations.
When the patient was 4 years of age, which was 28 months after the chemotherapy completion from the first Wilms tumor, a third Wilms tumor developed in the left kidney. The tumor was surgically removed prior to any further chemotherapy. Nine months after surgery, a metastasis was detected in the left lung. Both the third renal tumor and the lung metastasis showed a blastema-predominant morphology. Immunohistochemistry confirmed the lack of expression of WT1 protein, while beta catenin protein was expressed at nuclear level by a large majority of tumor cells. The molecular analysis of this third renal tumor and the lung metastasis revealed a 4 bp deletion in exon 7 of WT1 gene. This then led to a frameshift of the reading frame and to a premature stop of the translation. No mutations in the exon 3 of the beta-catenin gene were documented.
From this analysis, the group concluded their data supports the theory that multiple Wilms tumors can arise as a consequence of different genetic events in a single patient who has a genetic predisposition to Wilms tumor. The truly interesting question is why this mutation occurs. Was it due to the gene altering itself secondarily to chemotherapy or just that it truly is a process of the WAGR syndrome?
To view the original article Click Here
Disclaimer
Kidney Cancer Resource (KCR) is not influenced by sponsors. The information contained herein is not intended as a substitute for the advice of an appropriately qualified and licensed physician or other licensed health care provider. The information provided here is for educational and information purposes only. Early accurate Diagnosis (Dx.) saves lives. Please check with a physician if you suspect you are ill, never ignore Symptoms. To help your health care specialist make an accurate Diagnosis please keep notes of dates, times and details of your Symptoms. We are not offering medical advice nor do we consider links, individuals or articles accessed through this site to be offering medical advice.
E&OE - Errors & Omissions Excepted
As much of the information posted on this Web Site for peoples convenience is of a medical or technical nature, and may be a matter of life or death the E&OE is a Disclaimer showing that to the best of our ability information is accurate and correctly written or transcribed. Before acting on information on this site you are responsible for checking it with your relevant medical team. We can not be held responsible for any Errors & Omissions made; nor for information on links and articles provided in good faith.
