title: Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1.
abstract: We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.
authors.affiliation: Endocrine Division, SEMPR, Department of Internal Medicine, Hospital das Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil. cesarluiz@hc.ufpr.br
authors.forename: Cesar Luiz
authors.initials: CL
authors.lastname: Boguszewski
authors.forename: Leila Caroline
authors.initials: LC
authors.lastname: Bianchet
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Luiz M
authors.initials: LM
authors.lastname: Nomura
authors.forename: Luis Alencar
authors.initials: LA
authors.lastname: Borba
authors.forename: Teresa Cristina Santos
authors.initials: TC
authors.lastname: Cavalcanti
mesh_terms: D000236:Adenoma / Q000235:genetics*; D003657:Decision Making; D005260:Female; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D047748:Pituitary ACTH Hypersecretion / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011877:Radionuclide Imaging; D055815:Young Adult
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins