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KMID : 0377520150400040085
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Chung-Ang Journal of Medicine
2015 Volume.40 No. 4 p.85 ~ p.89
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A Case of Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 gene
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Lee Yeon-Hee
Kim Hyun-Chul
Lee Seung-Ik
Han Song-Yi
Yoon Phill-Hoon
Lee Si-Hoon
Lee Ki-Young
Kim Byung-Joon
Kim Kwang-Won
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Abstract
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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder. However, approximately 15% of patients with MEN1 may have a sporadic form of the disease. MEN1 is characterized by tumor formation in multiple endocrine and non-endocrine organs that mainly include the parathyroid gland, pancreatic islets, and pituitary gland. The gene associated with MEN1 is the MEN1 gene that encodes a 610-amino acid polypeptide called menin. The MEN1 gene is located on chromosome 11q13 and acts as a tumor suppressor since its expression can repress JunD-dependent transcription. Thus far, nearly 500 different germline mutations of the MEN1 gene have been reported. Here, we describe the case of a 30-year-old man diagnosed with MEN1 presenting pancreatic insulinoma, parathyroid adenoma, and a pituitary tumor. Genetic alteration of the MEN1 gene (menin) was studied using leukocyte genomic DNA, and a novel mutation in the MEN1 gene (exon 3, c.514delG; p.Asp172Metfs*13) was detected in the patient.
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KEYWORD
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MEN1, Multiple endocrine neoplasia type 1, Menin, Insulinoma
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