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Molecular diagnosis of multiple endocrine neoplasia type 2A
R J Pegoraro1, D J Hacking, R H Buck
1Department of Chemical Pathology, University of Natal, Durban.
Objective:
To identify by means of genetic analyses individuals who are at risk of developing medullary thyroid cancer that is a component of multiple endocrine neoplasia.
Subjects:
A three-generation kindred with clinically and biochemically diagnosed medullary thyroid cancer.
Method:
Identification of a heterozygote mutation by nucleic acid sequencing and restriction analyses.
Results:
A heterozygote T-->C (Cys-->Arg) mutation at codon 618 in exon 10 of the RET proto-oncogene was identified in 4 family members who had previously been diagnosed with medullary thyroid cancer. The same mutation was also found in one of the proband's presymptomatic children who subsequently underwent a pre-emptive thyroidectomy. The genetic diagnosis was confirmed by histology. No mutations were detected in any other family members.
Conclusion:
Identification of heterozygote germline mutations in multiple endocrine neoplasia is direct, highly accurate and cost-effective. This study demonstrates that, appropriately used, molecular diagnosis can supersede conventional biochemical methods in the management of patients with inherited cancers.
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