PMID- 23052745
OWN - NLM
STAT- MEDLINE
DCOM- 20140130
LR  - 20211021
IS  - 1436-2813 (Electronic)
IS  - 0941-1291 (Linking)
VI  - 43
IP  - 8
DP  - 2013 Aug
TI  - Analysis of genotype-phenotype correlations and survival outcomes in patients 
      with primary hyperparathyroidism caused by multiple endocrine neoplasia type 1: 
      the experience at a single institution.
PG  - 894-9
LID - 10.1007/s00595-012-0354-y [doi]
AB  - PURPOSE: To examine the clinical characteristics and survival outcomes of 
      patients with primary hyperparathyroidism (PHPT) in multiple endocrine neoplasia 
      type 1 (MEN1) in relation to the MEN1 gene mutation. METHODS: The study 
      population included the patients, positive for the MEN1 gene mutation, who 
      underwent parathyroidectomy between 1983 and 2009 at a single tertiary referral 
      center. Manifestations of the syndrome, other tumors and causes of death were 
      retrospectively correlated with the specific types and locations of MEN1 gene 
      mutations. RESULTS: Thirty-two patients from 19 families were diagnosed as having 
      MEN1 on genetic examinations. Mutations were most common in exons 2, 7 and 10. A 
      phenotypic analysis of the main MEN1 tumor types among the 32 patients revealed 
      that PHPT was the most common (100 %), followed in order by pancreatic 
      neuroendocrine tumors (PNETs) (53 %) and pituitary tumors (38 %). Death due to 
      MEN1-related disease occurred in five patients (16 %), including malignant PNET 
      in three cases (exons 2, 3), pituitary crisis in one case (exon 2) and thymic 
      cancer in one case (large deletion). CONCLUSIONS: Premature deaths related to 
      MEN1 are due to the development of malignant PNET, pituitary crisis or thymic 
      tumors associated with mutations in exons 2, 3 and a large deletion.
FAU - Horiuchi, Kiyomi
AU  - Horiuchi K
AD  - Department of Endocrine Surgery, Tokyo Women's Medical University, 8-1 
      Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan. khoriuchi@endos.twmu.ac.jp
FAU - Okamoto, Takahiro
AU  - Okamoto T
FAU - Iihara, Masatoshi
AU  - Iihara M
FAU - Tsukada, Toshihiko
AU  - Tsukada T
LA  - eng
PT  - Journal Article
DEP - 20121009
PL  - Japan
TA  - Surg Today
JT  - Surgery today
JID - 9204360
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
EIN - Surg Today. 2013 Aug;43(8):900
MH  - Adult
MH  - Aged
MH  - Exons/genetics
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Hyperparathyroidism, Secondary/etiology/*genetics/*mortality/surgery
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*complications/*genetics
MH  - *Mutation
MH  - Parathyroidectomy/mortality
MH  - Phenotype
MH  - Proto-Oncogene Proteins/*genetics
MH  - Retrospective Studies
MH  - Survival Rate
MH  - Treatment Outcome
MH  - Young Adult
EDAT- 2012/10/12 06:00
MHDA- 2014/01/31 06:00
CRDT- 2012/10/12 06:00
PHST- 2012/01/25 00:00 [received]
PHST- 2012/06/11 00:00 [accepted]
PHST- 2012/10/12 06:00 [entrez]
PHST- 2012/10/12 06:00 [pubmed]
PHST- 2014/01/31 06:00 [medline]
AID - 10.1007/s00595-012-0354-y [doi]
PST - ppublish
SO  - Surg Today. 2013 Aug;43(8):894-9. doi: 10.1007/s00595-012-0354-y. Epub 2012 Oct 
      9.