Abstract
We report the identification of a somatic mutation in the gene encoding the α subunit of the stimulatory G protein (Gsα) of adenylyl cyclase in an 8-year-old girl with a toxic thyroid nodule. She had symptoms and signs of thyrotwdcosis. The nodule was resected and found to be an adenoma. To clarify the molecular basis of this tumor, the presence of mutations at codon 201 and 227 in the Gsα gene was sought in deoxyribonucleic acid (DNA) extracted from the tumor and the patient's blood using polymerase chain reaction amplification (PCR). A G-to-A transition resulting in the replacement of Arg by His (Arg 201 to His) was found in exon 8 of one allele encoding Gsα. Because thyrocytes are programmed to proliferate in response to elevated 3', 5'-cyclic AMP (cAMP) levels, the activating Gsα mutation observed in this patient probably contributed to tumorgenic development. To our knowledge, this is the first case in which the activating Gsα mutation in a Japanese child with a toxic thyroid adenoma has been identified.
