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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.

AbstractPURPOSE:
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.
AuthorsKiyomi Horiuchi, Takahiro Okamoto, Masatoshi Iihara, Toshihiko Tsukada
JournalSurgery today (Surg Today) Vol. 43 Issue 8 Pg. 894-9 (Aug 2013) ISSN: 1436-2813 [Electronic] Japan
PMID23052745 (Publication Type: Journal Article)
Chemical References
  • MEN1 protein, human
  • Proto-Oncogene Proteins
Topics
  • Adult
  • Aged
  • Exons (genetics)
  • Female
  • Genotype
  • Humans
  • Hyperparathyroidism, Secondary (etiology, genetics, mortality, surgery)
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1 (complications, genetics)
  • Mutation
  • Parathyroidectomy (mortality)
  • Phenotype
  • Proto-Oncogene Proteins (genetics)
  • Retrospective Studies
  • Survival Rate
  • Treatment Outcome
  • Young Adult

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