Abstract | 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.
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Authors | Kiyomi Horiuchi, Takahiro Okamoto, Masatoshi Iihara, Toshihiko Tsukada |
Journal | Surgery today
(Surg Today)
Vol. 43
Issue 8
Pg. 894-9
(Aug 2013)
ISSN: 1436-2813 [Electronic] Japan |
PMID | 23052745
(Publication Type: Journal Article)
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Chemical References |
- MEN1 protein, human
- Proto-Oncogene Proteins
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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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