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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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.[1]


  1. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Cajaiba, M.M., Bale, A.E., Alvarez-Franco, M., McNamara, J., Reyes-M??gica, M. Nature clinical practice. Oncology. (2006) [Pubmed]
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