Review Question - QID 109131

This pediatric patient presents with an asymptomatic abdominal mass that does not cross the midline and hematuria, which suggests a diagnosis of Wilms tumor. In the setting of his aniridia and intellectual disability, this patient most likely has WAGR syndrome, which also presents with genitourinary abnormalities like cryptorchidism.

Wilms tumor is the most common pediatric renal malignancy and typically presents in a child between 2 and 5 years of age with a firm, non-tender abdominal mass that does not cross the midline. Patients may be completely asymptomatic or have additional symptoms of fever and abdominal pain. Wilms tumor is associated with two genetic syndromes, WAGR syndrome and Beckwith-Wiedemann syndrome (BWS). The acronym in WAGR syndrome stands for Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation.

Figure A demonstrates aniridia, or the congenital absence of all or part of the iris.

Incorrect Answers:
Answer 2: Hemangioblastomas are associated with Von Hippel-Lindau (VHL). VHL is also associated with pheochromocytoma, clear cell renal carcinoma, and other benign and malignant tumors. In the setting of this patient’s anidria and intellectual disability, he more likely has WAGR syndrome.

Answer 3: Neuroblastoma is associated with Beckwith-Wiedemann syndrome (BWS). Unlike in this patient, neuroblastoma classically presents within the first year of life as an abdominal mass that crosses the midline. BWS also classically presents with macrosomia, macroglossia, hemihypertrophy, midline abdominal wall defects, visceromegaly, and neonatal hypoglycemia.

Answer 4: Osteosarcoma is associated with Li-Fraumeni syndrome, which can also cause breast cancer, leukemia, and adrenocortical carcinomas. This patient’s abdominal mass is more likely to be a Wilm's tumor than an adrenocortical malignancy. Li-Fraumeni syndrome would not explain this patient’s anidria or intellectual disability.

Answer 5: Parathyroid hyperplasia is associated with multiple endocrine neoplasia (MEN) type 1 and type 2A. The MEN syndromes are also associated with pheochromocytoma, but this patient’s abdominal mass is more likely to be a Wilm's tumor. The MEN syndromes also do not present with the other findings present in this patient.

Bullet Summary:
Wilms tumor presents in patients between the ages of 2 and 5 as a firm, non-tender mass that does not cross the midline and is associated with both WAGR syndrome and Beckwith-Wiedemann syndrome.