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

Nat Clin Pract Oncol. 2006 Oct;3(10):575-80. doi: 10.1038/ncponc0608.

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.

Publication types

  • Case Reports

MeSH terms

  • Basal Cell Nevus Syndrome / diagnosis
  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / pathology*
  • Bone Cysts / complications
  • Child, Preschool
  • Female
  • Humans
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / surgery*
  • Macroglossia / etiology
  • Mandible
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface / genetics
  • Rhabdomyosarcoma / genetics
  • Rhabdomyosarcoma / pathology
  • Rhabdomyosarcoma / surgery*
  • Wilms Tumor / genetics
  • Wilms Tumor / pathology
  • Wilms Tumor / surgery*

Substances

  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface