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

Nature Clinical Practice Oncology volume 3, pages 575–580 (2006)Cite this article

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.

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Figure 1: Gross and microscopic appearance of the patient's paravesical rhabdomyosarcoma.
Figure 2: Gross and microscopic appearance of the patient's Wilms tumor and keratocyst.
Figure 3: Genotyping of chromosome 9q markers in the proband and her parents.

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Authors and Affiliations

  1. clinical oncologist and an anatomic pathologist at the Hospital do Câncer-AC Camargo, São Paulo, Brazil

    Mariana M Cajaiba

  2. Cancer Genetics Program of the Yale Cancer Center,

    Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara & Miguel Reyes-Múgica

  3. Yale University,

    Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara & Miguel Reyes-Múgica

  4. Pediatric Hematology/Oncology Associates in Guilford,

    Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara & Miguel Reyes-Múgica

  5. Yale–New Haven Hospital,

    Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara & Miguel Reyes-Múgica

  6. Pediatric and Developmental Pathology Program at Yale University, New Haven, CT, USA

    Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara & Miguel Reyes-Múgica

Authors
  1. Mariana M Cajaiba
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  2. Allen E Bale
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  3. Mayra Alvarez-Franco
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  4. Joseph McNamara
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  5. Miguel Reyes-Múgica
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Corresponding author

Correspondence to Miguel Reyes-Múgica.

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The authors declare no competing financial interests.

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Cajaiba, M., Bale, A., Alvarez-Franco, M. et al. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Rev Clin Oncol 3, 575–580 (2006). https://doi.org/10.1038/ncponc0608

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  • DOI: https://doi.org/10.1038/ncponc0608

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