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.


METHODS
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.


METHODS
Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.


RESULTS
Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.
Cajaiba
Mariana M
MM
Pediatric and Developmental Pathology Program, Department of Pathology, Yale University School of Medicine, 430 Congress Avenue, New Haven, CT 06520, USA.
Bale
Allen E
AE
Alvarez-Franco
Mayra
M
McNamara
Joseph
J
Reyes-Múgica
Miguel
M
D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D001845:Bone Cysts / Q000150:complications; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D008260:Macroglossia / Q000209:etiology; D008334:Mandible; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics; D012208:Rhabdomyosarcoma / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D009396:Wilms Tumor / Q000235:genetics / Q000473:pathology / Q000601:surgery*
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface