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We report a patient with a metastatic parathyroid carcinoma and medullary carcinoma of the thyroid. This patient represents a variation of the multiple endocrine neoplasia syndrome (MEN) type 2A. There was no evidence of a phaeochromocytoma. The case illustrates the difficulties that may be encountered in localising the source of PTH secretion; the patient underwent four unsuccessful exploratory operations of the neck and mediastinum before further investigations revealed a single metastatic deposit of parathyroid carcinoma involving the first thoracic vertebra. PCR amplification and sequencing of the RET oncogene from the metastatic parathyroid carcinoma and genomic DNA revealed a heterozygous mutation (Cys634Tyr) in exon 11, as has previously been described to occur in MEN 2A. In addition, loss of tumour heterozygosity was demonstrated at loci from chromosomes 1, 2, 3p, 13q and 16p. This represents the first report of a parathyroid carcinoma in a MEN2A patient, in which the multiple allelic deletions are consistent with the generalised losses observed in aggressive tumours.

Type

Journal article

Journal

Clin Endocrinol (Oxf)

Publication Date

12/1997

Volume

47

Pages

747 - 751

Keywords

Carcinoma, Drosophila Proteins, Gene Deletion, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Endocrine Neoplasia Type 2a, Mutation, Parathyroid Neoplasms, Proto-Oncogene Proteins, Proto-Oncogene Proteins c-ret, Radionuclide Imaging, Receptor Protein-Tyrosine Kinases, Spinal Neoplasms, Thoracic Vertebrae, Thyroid Neoplasms