Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome

Background A 5-year-old girl with a medical history of mental retardation, physical abnormalities and a known interstitial deletion of chromosome 9q22-q32 presented with a palpable suprapubic mass. During ultrasound investigation, a left renal mass was also detected. The patient underwent surgical removal of both neoplasms, which were diagnosed as a rahabsomyosarcoma and a Wilms tumor. Seven years later, she presented with macroglossia and a benign mandibular cyst. Investigations Physical examination, karyotyping, abdominal and pelvic ultrasound, brain CT scan, anatomic pathology analysis with immunohistochemistry, and typing of polymorphic markers in the patched (PTCH) gene region. Diagnosis Gorlin syndrome with synchronous rhabsomyosarcoma and Wilms tumor. Management Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.