Familial wilms tumor 2

Familial Wilms Tumor 2 (FWT2) is a genetic condition associated with an increased risk of developing Wilms tumor, a type of kidney cancer that primarily affects children. This condition falls under the broader category of familial Wilms tumor, which indicates that Wilms tumor occurs within families more frequently than would be expected by chance alone. FWT2 is distinguished by its genetic cause and inheritance pattern.

Genetics

FWT2 is linked to mutations in the WT1 gene located on chromosome 11. The WT1 gene plays a crucial role in kidney and gonadal development during fetal life. Mutations in this gene can disrupt normal development, leading to conditions like Wilms tumor. FWT2 is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene is sufficient to increase the risk of developing the tumor.

Clinical Presentation

Children with FWT2 may present with an abdominal mass, hematuria (blood in the urine), abdominal pain, or hypertension. These symptoms are similar to those observed in sporadic cases of Wilms tumor. However, individuals with FWT2 may have a higher risk of bilateral tumors (affecting both kidneys) or developing tumors at a younger age.

Diagnosis

Diagnosis of FWT2 involves a combination of clinical evaluation, family history, and genetic testing. Imaging studies such as ultrasound, MRI, or CT scans are used to detect the presence of tumors. Genetic testing can confirm the presence of a WT1 gene mutation, supporting the diagnosis of FWT2.

Management

The management of FWT2 involves surveillance for early detection of tumors, surgical removal of tumors, and possibly chemotherapy or radiation therapy, depending on the stage and histology of the tumor. Regular follow-up and monitoring are essential for individuals with FWT2 due to the increased risk of tumor development.

Prognosis

The prognosis for individuals with FWT2 largely depends on the stage and characteristics of the tumor at diagnosis. Early detection and treatment of Wilms tumor generally result in a favorable outcome, with high survival rates. However, individuals with FWT2 may require lifelong monitoring for the potential development of new tumors.

See Also

• Wilms Tumor
• Genetic Testing
• Kidney Cancer
• Pediatric Oncology

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