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Medullary Thyroid Carcinoma Identified by Cell-Free Translation of Tumor Messenger Ribonucleic Acid in a Patient with a Neck Mass and the Syndrome of Ectopic Adrenocorticotropin

Laboratory of Molecular Endocrinology and Thyroid Unit, Department of Medicine, Massachusetts General Hospital Massachusetts 02114; Howard Hughes Medical Institute Laboratories at Harvard Medical School, Boston Massachusetts 02114; The Departments of Medicine and Pathology, Tufts-New England Medical Center, Boston Massachusetts 02111

Address requests for reprints to: Dr. William W. Chin, Laboratory of Molecular Endocrinology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts 02114.

We report a patient who presented with a lateral neck mass and Cushing's syndrome secondary to the ectopic production of ACTH. The initial diagnosis was a nonchromaffin paraganglioma based on conventional light and electron microscopic studies. However, during this patient's hospital course, we determined that mRNA extracted from the tumor directed the translation of a calcitonin precursor in a cell-free system. This finding led to a consideration of the diagnosis of medullary thyroid carcinoma, which was then confirmed by further endocrine and histological evaluations. This is a report ofthe identification of a tumor type using techniques of molecular biology. (JClin Endocrinol Metab 52: 572, 1981)

Received August 1, 1980.