title: [Various neuroendocrine tumors in a family with multiple endocrine neoplasia type 1].
abstract: When multiple endocrine tumors are detected more tests are required to diagnose endocrine tumor syndromes. The authors report the case history of a patient with clinical manifestation of multiplex endocrine neoplasia type 1 (parathyroid adenoma, pancreatic neuroendocrine tumor, pituitary tumor, adrenal gland tumors and thymic neuroendocrine carcinoma). Genetic screening proved a novel stop codon mutation of the MEN1 gene in the patient and in two other members of the family. The son of the index patient showed clinical symptoms of pancreatic neuroendocrine tumor (insulinoma) and parathyroid adenoma. One of the two daughters was also positive for the same mutation, however, she had no clinical symptoms. The authors review current knowledge on the genetic background of multiple endocrine syndrome type 1, the role of menin and the usefulness of gene mutation screening.
authors: Szegedi Tudományegyetem, Általános Orvostudományi Kar I. Belgyógyászati Klinika Szeged Korányi fasor 8-10. 6720.
authors: Krisztián
authors: K
authors: Sepp
authors: Szegedi Tudományegyetem, Általános Orvostudományi Kar I. Belgyógyászati Klinika Szeged Korányi fasor 8-10. 6720.
authors: Zsuzsanna
authors: Z
authors: Valkusz
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D018358:Neuroendocrine Tumors / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000235:genetics; D049268:Positron-Emission Tomography; D013953:Thymus Neoplasms / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed
keywords: gene mutation screening; génmutáció-szűrés; multiple endocrine neoplasia type 1; multiplex endokrinneoplasia-szindróma 1-es típusa; neuroendocrine tumor; neuroendokrin tumor