title: A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.
abstract: We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842delC, exon 4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN1 in the patient. Four family members--three sisters and one daughter--had neither clinical features of MEN1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.
authors.affiliation: First Department of Internal Medicine, Kagawa Medical University, Kita-Gun, Japan. makoto@kms.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: A
authors.initials: A
authors.lastname: Miyauchi
authors.forename: H
authors.initials: H
authors.lastname: Namihira
authors.forename: M M
authors.initials: MM
authors.lastname: Bhuiyan
authors.forename: H
authors.initials: H
authors.lastname: Imachi
authors.forename: K
authors.initials: K
authors.lastname: Murao
authors.forename: J
authors.initials: J
authors.lastname: Takahara
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016105:Parathyroidectomy; D010375:Pedigree