Rhabdomyosarcoma, Wilms Tumor, and Deletion of the Patched Gene in Gorlin Syndrome

Mariana M Cajaiba; Allen E Bale; Mayra Alvarez-Franco; Joseph McNamara; Miguel Reyes-Múgica

Disclosures

Nat Clin Pract Oncol. 2006;3(10):575-580. 

In This Article

Summary

Background A 5-year-old year 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 rhabdomyosarcoma 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 rhabdomyosarcoma and Wilms tumor.
Management Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....