title: Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.
abstract: We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) in a young woman who was subsequently proven to have a novel mutation of the MEN1 gene. The young patient, aged 25 years, was investigated for abdominal discomfort and left upper abdominal pain. Her family history was unremarkable, except an unknown disorder of her father causing early death. Abdominal ultrasonography (USG) and computed tomography revealed a giant pancreatic tumor measuring 10 cm in diameter. The diagnosis of a clinically nonfunctioning pancreatic neuroendocrine tumor was established by clinical and other studies, including USG-guided aspiration biopsy and octreotide scintigraphy, and the patient underwent a distal pancreatectomy. Histology proved a well-differentiated multinodular neuroendocrine tumor of the pancreas. During surgery, a subcutaneous lipoma was also removed from the abdominal wall. Two years later, the patient developed primary hyperparathyroidism, and two enlarged parathyroid glands were surgically removed. Magnetic resonance imaging of the pituitary gland was normal. Screening for MEN1 gene mutation by temperature gradient gel electrophoresis revealed heterozygosities in exons 3, 8, and 9, while direct sequencing indicated a novel germline mutation (C354X) resulting in a stop codon in exon 8 and polymorphisms in exon 3 (R171Q) and exon 9 (D418D and L432L). Genetic screening revealed no mutation in living family members. Our unusual case suggests that a multinodular pancreatic neuroendocrine tumor in a young patient may justify screening for MEN 1 syndrome, even in the absence of other endocrinopathy or family history.
authors.affiliation: Second Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi str. 46, 1088, Budapest, Hungary.
authors.forename: Katalin
authors.initials: K
authors.lastname: Balogh
authors.affiliation: Second Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi str. 46, 1088, Budapest, Hungary.
authors.forename: Attila
authors.initials: A
authors.lastname: Patócs
authors.affiliation: Second Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi str. 46, 1088, Budapest, Hungary.
authors.forename: Judit
authors.initials: J
authors.lastname: Majnik
authors.affiliation: First Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: Fatima
authors.initials: F
authors.lastname: Varga
authors.affiliation: Second Department of Pathology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: György
authors.initials: G
authors.lastname: Illyés
authors.affiliation: Department of Physiology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Hunyady
authors.affiliation: Second Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi str. 46, 1088, Budapest, Hungary. racz@bel2.sote.hu.
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
mesh_terms: D000328:Adult; D003062:Codon; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000601:surgery; D008067:Lipoma / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D008954:Models, Biological; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D010179:Pancreas / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013696:Temperature
chemical_list: D003062:Codon; D018388:Codon, Terminator; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins