A Novel Deletion Mutation in the Men1 Gene in a Patient with Prolactinoma and a Family History of Pancreatic Tumors |
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| Institution: | 1. Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine;2. Department of Endocrinology, Metabolism, and Infectious Diseases, Hirosaki University School of Medicine & Hospital;3. Clinical Research Institute, National Hospital Organization, Kyoto Medical Center;4. Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine;1. Saint Vincent Charity Medical Center, Cleveland, Ohio;2. D.Y. Rowland Associates, Cleveland Heights, Ohio;3. Case Western Reserve University, Cleveland, Ohio.;1. Department of Endocrinology, Diabetes, and Metabolism, Cleveland, Ohio;2. Department of Radiation Oncology, Cleveland, Ohio;3. Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Department of Neurosurgery and the Neurological Institute, Cleveland Clinic Foundation, Cleveland, Ohio;4. Current Affiliation: Department of Neurosurgery, Geisinger Health System, Danville, Pennsylvania.;1. Division of Community Internal Medicine, Scottsdale, Arizona;2. Divisions of Endocrinology and Preventive, Occupational, and Aerospace Medicine, Mayo Clinic, Scottsdale, Arizona;3. The Epsilon Group, Charlottesville, Virginia.;4. Alere Informatics Solutions, Charlottesville, Virginia. |
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| Abstract: | ObjectiveMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor syndrome caused by mutations in the MEN1 gene. Mutations in this tumor suppressor gene are often associated with neuroendocrine tumors. Here we describe a novel deletion mutation at codon 304 in the MEN1 gene of a patient with a prolactinoma and strong family history of pancreatic tumors.MethodsWe describe the patient’s clinical course and mutational analysis and review the relevant literature. Results: A 30-year-old pregnant female was referred to our institution’s psychological department for treatment of depression. She had developed a prolactinoma at age 17 and was being treated with 1 mg/week of cabergoline. A medical interview revealed a family history of pancreatic islet cell and other tumors; her mother died of pancreatic cancer, her brother is living with gastrinoma, and her sister died of leiomyosarcoma. Extensive examinations performed after delivery, including laboratory tests and computed tomography (CT) scans, did not reveal any other tumors. Mutational analysis of the MEN1 gene identified a heterozygous deletion mutation (c911_914delAGGT) at codon 304. This mutation produces a frameshift at p.304Lys and might disturb the splicing of intron 6 due to the lack of a donor site. The predicted menin protein from the mutated allele is truncated at amino acid 328.ConclusionWe report a novel deletion mutation (c911_914delAGGT) in the MEN1 gene that was likely associated with the patient’s prolactinoma and her strong family history of pancreatic tumors. (Endocr Pract. 2014; 20:e162-e165) |
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