Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database

Sakurai, Akihiro; Suzuki, Shinichi; Kosugi, Shinji; Okamoto, Takahiro; Uchino, Shigehiko; Miya, Akihiro; Imai, Tsuneo; Kaji, Hiroshi; Komoto, Izumi; Miura, Daishu; Yamada, Masanobu; Uruno, Takashi; Horiuchi, Kiyomi; Miyauchi, Akira; Imamura, Masayuki

doi:10.1111/j.1365-2265.2011.04227.x

Cited by 98 publications

(117 citation statements)

References 31 publications

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“…Unfortunately, as in other cases [23,24], our database presents some limitations. First, for patients included retrospectively, the family and clinical information may be incomplete.…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

et al. 2017

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Objective The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Methods Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011)(2012)(2013)

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“…Unfortunately, as in other cases [23,24], our database presents some limitations. First, for patients included retrospectively, the family and clinical information may be incomplete.…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

et al. 2017

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“…Some reported a founder effect in the particular country (11). We established a study group designated the 'MEN Consortium of Japan' in 2008 (12) and started constructing a database of Japanese patients with MEN, asking physicians and surgeons to provide clinical and genetic information on patients they had treated up to 2011. RET mutation data were available in 390 MEN2 patients, 144 of whom developed PHEO, while 246 did not.…”

Section: Introductionmentioning

confidence: 99%

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

Imai

Uchino

Okamoto

et al. 2013

European Journal of Endocrinology

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Objective: The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to clarify the codon-specific penetrance of PHEO in MEN2. Design: We established a study group designated the 'MEN Consortium of Japan' in 2008 and asked physicians and surgeons to provide clinical and genetic information on patients they had treated up to 2011. Methods: Data were collected on patients identified as carriers of the RET mutation or diagnosed with medullary thyroid carcinoma (MTC) and/or PHEO with family history from 52 institutions all over Japan. Results: Of 493 registered MEN2 patients, RET mutation data were available for 390. Of these, 144 developed PHEOs, while 246 did not. The penetrance of PHEO was 25% by age 30 years, 52% by age 50 years, and 88% by age 77 years in RET mutation carriers with a codon 634 mutation. All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years. Less than 32% penetrance of PHEO was seen in patients with mutations at codons other than 634 and 918. Conclusions: Most patients with a codon 634 mutation develop PHEOs as well as MTC during their lifetime.

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“…The relevant MEN1 case series published in the literature report a 1 % incidence of VIPomas [13,14]. The age at diagnosis is usually younger than in sporadic VIPomas.…”

Section: Discussionmentioning

confidence: 99%

Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome

et al. 2016

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Sporadic VIPoma is an exceedingly rare tumor with an annual incidence of 1:10 million people worldwide, yet it is described in approximately 5 % of MEN1 patients. The majority of VIPomas are malignant and radical surgery is the best therapeutic option. A 58-year-old man presented with cardiocirculatory arrest due to ventricular fibrillation. The patient had a 3-month history of epigastric pain with diarrhea. After reanimation, laboratory data revealed severe hypokalemia and hypercalcemia. Further investigations showed hyperparathyroidism, left adrenal adenoma and pituitary microprolactinoma and genetic diagnosis of MEN1 syndrome was made. Abdominal computed tomography revealed a 45 9 30 mm mass of the pancreatic head and two hepatic lesions, which proved to be neuroendocrine after 68 Ga PET and needle biopsy. Vasoactive intestinal peptide (VIP) serum level had increased. Subsequently the patient underwent pylorus-preserving pancreaticoduodenectomy and hepatic resection. Intraoperative VIP returned to normal values. Histopathology confirmed a pancreatic VIPoma metastatic to the liver. The postoperative course was unremarkable and the patient is well with no evidence of disease at a 48 months follow-up. Even in case of anusual presentation, when two or more main clinical findings of MEN1 related tumors are present, unrespectively to the presence of MEN1 mutation, MEN1 syndrome should be suspected. Surgery in MEN1 pancreatic neuroendocrine tumors is indicated both to treat symptoms and to avoid oncological progression even in advanced cases.

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Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database

Abstract: We established the first extensive database for Asian patients with MEN1. Although the clinical features of Japanese patients were similar to those in western countries, there were several characteristic differences between them.

Cited by 98 publications

References 31 publications

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome

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