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The aim of the present study was to analyze the MEN1 and gsα gene mutations in a Chinese patient with growth hormone-producing pituitary tumors causing acromegaly, papillary thyroid carcinoma and subcutaneous fibroma. Genomic DNA was isolated from the patient and 10 healthy controls, and prepared for polymerase chain reaction (PCR) analysis. Numerous pairs of primers were designed to amplify exons 1-10 of the MEN1 gene and exons 8 and 9 of the gsα gene, and the PCR products were sequenced to detect mutations. In the study patient, a heterozygous G→A mutation was detected at nucleotide 7848 within exon 10 of the MEN1 gene; the missense mutation caused the substitution of alanine with threonine at amino acid 541 (A541T) in the menin protein. In addition, a G→A mutation at nucleotide 7997 within exon 10 of the MEN1 gene was identified; the mutation was synonymous, therefore, the proline at amino acid 590 of the menin protein (P590P) did not change. No other mutations were observed in exons 8 and 9 of the gsα gene, therefore, the G7848A mutation within exon 10 of the MEN1 gene may represent the molecular pathology underlying pituitary somatotroph adenomas and papillary thyroid carcinoma. Furthermore, the pituitary adenomas, thyroid carcinoma and subcutaneous fibroma of the present patient may be considered as early manifestations of multiple endocrinologic neoplasia syndrome 1 as opposed to pure endocrine tumors, however, a long-term follow-up study is required to clarify this.

Genetic analysis of a patient with coexisting acromegaly, thyroid papillary carcinoma and subcutaneous fibroma