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Tumor predisposition in Costello syndrome.

Karen W Gripp1

  • 1Thomas Jefferson Medical College, Philadelphia, Pennsylvania, USA. kgripp@nemours.org

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|July 13, 2005
PubMed
Summary

Costello syndrome (CS) patients face higher cancer risks, particularly rhabdomyosarcoma. Urine catecholamine tests are not useful for screening neuroblastoma in CS patients due to elevated baseline levels.

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Area of Science:

  • Genetics
  • Pediatrics
  • Oncology

Background:

  • Costello syndrome (CS) is a rare congenital disorder.
  • CS is characterized by overgrowth features, postnatal failure to thrive, and short stature.
  • Patients with CS have an elevated risk of developing malignant tumors, including rhabdomyosarcoma and neuroblastoma.

Purpose of the Study:

  • To review the tumor spectrum and screening protocols for Costello syndrome.
  • To evaluate the utility of urine catecholamine testing for neuroblastoma screening in CS.
  • To highlight other medical issues associated with CS.

Main Methods:

  • Literature review of Costello syndrome.
  • Analysis of tumor types and frequencies in CS patients.
  • Evaluation of screening protocols, including urine catecholamine assays and imaging.

Main Results:

  • Rhabdomyosarcoma is the most common tumor in CS, followed by neuroblastoma and bladder carcinoma.
  • Adolescent bladder carcinoma is an unusual finding in CS.
  • Elevated urinary catecholamine metabolites are common in CS patients, even without tumors, rendering the assay unhelpful for neuroblastoma screening.

Conclusions:

  • Timely diagnosis of CS is crucial for cancer risk awareness.
  • Current screening protocols, including urine catecholamine tests, require re-evaluation.
  • Standard cancer treatment protocols should be followed, and associated conditions like cardiomyopathy managed.

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