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Elevated catecholamine metabolites in patients with Costello syndrome
Karen W Gripp1, Hiroshi Kawame, David H Viskochil
1Division of Medical Genetics, A. I. duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA. kgripp@nemours.org
American Journal of Medical Genetics. Part A
|June 24, 2004
Summary
Elevated urinary catecholamine metabolites in Costello syndrome patients are common but rarely indicate neuroblastoma. This finding suggests re-evaluating screening protocols for these rare tumor types.
Area of Science:
- Genetics
- Pediatric Oncology
- Biochemistry
Background:
- Costello syndrome is a rare genetic disorder associated with an increased risk of specific cancers, including neuroblastoma.
- Tumor screening protocols are crucial for early detection in high-risk populations.
- Measuring urinary catecholamine metabolites (vanillylmandelic acid and homovanillic acid) is a standard screening test for neuroblastoma.
Observation:
- Eight patients with Costello syndrome presented with elevated urinary vanillylmandelic acid (VMA) and/or homovanillic acid (HVA).
- These elevations were noted both during routine screening and in symptomatic cases.
- Despite elevated levels, none of the patients were diagnosed with neuroblastoma or other catecholamine-secreting tumors.
Findings:
- Elevated catecholamine metabolites in Costello syndrome may represent a physiological variant rather than a sign of malignancy.
- The established normal limits (2 standard deviations above the mean for age) may not be applicable for screening in this population.
- The underlying pathophysiology for these elevated levels in Costello syndrome remains undetermined.
Implications:
- The utility of current neuroblastoma screening assays using catecholamine metabolites in Costello syndrome patients is questionable.
- Clinicians should exercise caution when interpreting elevated catecholamine metabolite levels in Costello syndrome, considering potential variants.
- Further research is needed to understand the biochemical basis of catecholamine metabolite abnormalities in Costello syndrome and to develop more accurate diagnostic tools.