Wilms tumor, a type of kidney cancer primarily affecting children, is associated with several genetic syndromes, with approximately 9–17% of all cases linked to a predisposing condition. Recognizing these associations is crucial for early detection and management.
Key Syndromes Linked to Wilms Tumor
The most common syndromes that significantly increase a child's risk of developing Wilms tumor include WAGR syndrome, Denys-Drash syndrome, Beckwith-Wiedemann syndrome, isolated hemihypertrophy, and Perlman syndrome.
These syndromes are characterized by distinct features, and their connection to Wilms tumor highlights the importance of genetic screening and surveillance for affected individuals.
Here's a detailed look at the syndromes associated with Wilms tumor:
| Syndrome Name | Key Characteristics (Associated with Wilms Tumor Risk) |
|---|---|
| WAGR Syndrome | An acronym for Wilms tumor, Aniridia (absence of the iris), Genitourinary anomalies, and intellectual Retardation. Individuals with this syndrome have a significantly increased risk of developing Wilms tumor. |
| Denys-Drash Syndrome (DDS) | Characterized by early-onset kidney disease (diffuse mesangial sclerosis leading to renal failure), male pseudohermaphroditism (gonadal dysgenesis), and a high propensity for Wilms tumor. |
| Beckwith-Wiedemann Syndrome (BWS) | An overgrowth disorder often presenting with macroglossia (large tongue), omphalocele (abdominal wall defect), ear creases/pits, and an elevated risk of certain tumors, including Wilms tumor. |
| Isolated Hemihypertrophy | Refers to the overgrowth of one side of the body or a specific body part (e.g., a limb) without other features of a recognized syndrome. This asymmetry is a known risk factor for Wilms tumor. |
| Perlman Syndrome | A rare, severe overgrowth syndrome characterized by generalized fetal overgrowth, distinctive facial features, kidney abnormalities (nephromegaly), and a very high risk of developing Wilms tumor. |
Understanding these predisposing syndromes is vital for healthcare professionals to implement appropriate surveillance protocols, such as regular abdominal ultrasounds, to detect Wilms tumor at an early and more treatable stage.
