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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)575-580
Number of pages6
JournalNature Clinical Practice Oncology
Volume3
Issue number10
DOIs
StatePublished - Oct 1 2006

ASJC Scopus subject areas

  • Oncology

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