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.
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 of the identification of a tumor type using techniques of molecular biology.
D000182:ACTH Syndrome, Ectopic / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone / Q000096:biosynthesis; D002116:Calcitonin / Q000096:biosynthesis; D002277:Carcinoma / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009384:Paraneoplastic Endocrine Syndromes / Q000175:diagnosis*; D014176:Protein Biosynthesis; D011498:Protein Precursors / Q000096:biosynthesis; D012333:RNA, Messenger / Q000378:metabolism; D012334:RNA, Neoplasm / Q000378:metabolism*; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000503:physiopathology
D011498:Protein Precursors; D012333:RNA, Messenger; D012334:RNA, Neoplasm; D000324:Adrenocorticotropic Hormone; D002116:Calcitonin