PMID- 26515642
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20151030
LR  - 20200930
IS  - 2052-0573 (Print)
IS  - 2052-0573 (Electronic)
IS  - 2052-0573 (Linking)
VI  - 2015
DP  - 2015
TI  - A patient with novel mutations causing MEN1 and hereditary multiple 
      osteochondroma.
LID - 10.1530/EDM-14-0120 [doi]
LID - 14-0120
AB  - We report of a male patient aged 32 years who presented with primary 
      hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 
      years, nervus facialis irritation was noted, and an MRI scan incidentally 
      revealed a non-functioning pituitary adenoma with affection of the chiasma 
      opticum. The patient underwent transsphenoidal operation resulting in pituitary 
      insufficiency postoperatively. At the same time, primary hyperparathyroidism 
      reoccurred and a parathyroid adenoma located at the thymus was resected. The 
      mother of the patient died early due to multiple tumors. The patient was 
      suspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis 
      was performed. In addition, on clinical examination, multiple exostoses were 
      noticed and an additional genetic analysis was performed. His father was reported 
      to have multiple osteochondromas too. MEN1 was diagnosed in the patient showing a 
      novel heterozygote mutation c.2T>A in exon 2, codon 1 (start codon 
      ATG>AAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 
      gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the 
      EXT1 gene (heterozygotic). In conclusion, we report novel mutations of the EXT1 
      and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one 
      patient. LEARNING POINTS: It is important to ask for the patient's family history 
      in detail.Patients with MEN1 are characterized by the occurrence of tumors in 
      multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid 
      (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) 
      tissues.Familiar MEN1 has a high degree of penetrance (80-95%) by the age over 
      50; however, combinations of the tumors may be different in members of the same 
      family.Patients with EXT1 gene mutations should be monitored for possible 
      transformation of bone lesions into osteochondrosarcoma.
FAU - Remde, Hanna
AU  - Remde H
AD  - Charite University Medicine , Berlin , Germany.
FAU - Kaminsky, Elke
AU  - Kaminsky E
AD  - Laboratory for Molecular Genetics , Hamburg , Germany.
FAU - Werner, Mathias
AU  - Werner M
AD  - Institute of Pathology , HELIOS Klinikum Emil von Behring, Stiftung 
      Oskar-Helene-Heim, Berlin , Germany.
FAU - Quinkler, Marcus
AU  - Quinkler M
AD  - Endocrinology in Charlottenburg , Stuttgarter Platz 1, Berlin, D 10627 , Germany.
LA  - eng
PT  - Journal Article
DEP - 20150225
PL  - England
TA  - Endocrinol Diabetes Metab Case Rep
JT  - Endocrinology, diabetes & metabolism case reports
JID - 101618943
PMC - PMC4621953
OTO - NOTNLM
OT  - 2015
OT  - Adult
OT  - Bone
OT  - Bone pain
OT  - CT
OT  - Calcitriol
OT  - Calcium (serum)
OT  - Endosonography
OT  - FT4
OT  - Gastroenterology
OT  - Genetic analysis
OT  - Germany
OT  - Glucocorticoids
OT  - Hereditary multiple osteochondroma
OT  - Hydrocortisone
OT  - Hyperparathyroidism (primary)
OT  - IGF1
OT  - Immunohistochemistry
OT  - Levothyroxine
OT  - MEN1
OT  - Male
OT  - March
OT  - Non-functioning pituitary adenoma
OT  - Octreotide scan
OT  - Osteoporosis
OT  - PTH
OT  - Parathyroid
OT  - Pituitary
OT  - Pituitary adenoma
OT  - Prolactin
OT  - Sestamibi scan
OT  - Skeletal deformity
OT  - Testosterone
OT  - Transsphenoidal surgery
OT  - Ultrasound
OT  - Unique/unexpected symptoms or presentations of a disease
OT  - Visual field assessment
OT  - Visual field defect
OT  - White
OT  - X-ray
OT  - phosphate (serum)
EDAT- 2015/10/31 06:00
MHDA- 2015/10/31 06:01
PMCR- 2015/02/25
CRDT- 2015/10/31 06:00
PHST- 2015/01/30 00:00 [received]
PHST- 2015/02/25 00:00 [accepted]
PHST- 2015/10/31 06:00 [entrez]
PHST- 2015/10/31 06:00 [pubmed]
PHST- 2015/10/31 06:01 [medline]
PHST- 2015/02/25 00:00 [pmc-release]
AID - EDM140120 [pii]
AID - 10.1530/EDM-14-0120 [doi]
PST - ppublish
SO  - Endocrinol Diabetes Metab Case Rep. 2015;2015:14-0120. doi: 10.1530/EDM-14-0120. 
      Epub 2015 Feb 25.