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Sakurai A.,Shinshu University | Imai T.,Nagoya University | Kikumori T.,Nagoya University | Horiuchi K.,Tokyo Womens Medical University | And 7 more authors.
Clinical Endocrinology

Objective Thymic neuroendocrine tumour (Th-NET) occurs in 2-5% of patients with MEN1 and has high malignant potency accompanying recurrence and distant metastasis. While Th-NET is recognized to develop predominantly in men and heavy smokers, a number of female patients have been reported in the literature. The objective of this study is to clarify the clinical features of MEN1 patients with Th-NET using database analysis. Design/Patients Clinical data of patients with Th-NET were extracted and analysed from a recently constructed database of Japanese MEN1 patients. Results Among 560 registered cases, Th-NET was seen in 28 (5·0%) patients. Of note, 36% of patients (10/28) were women; only one patient among those was a smoker and another six patients were non-smokers. Age at diagnosis of Th-NET and MEN1, tumour size, prevalence of other MEN1-related tumours did not differ between male and female patients, and 10-year survival probability was 0·271 ± 0·106. Conclusions Although the prevalence of Th-NET in women (3·2%) is significantly lower than that in men (7·6%), a considerable proportion of female patients develop Th-NET. Given that Th-NET is a major determinant of life expectancy of patients, our results alert clinicians who treat patients with MEN1 that surveillance of Th-NET is essential even for female patients without a smoking habit. © 2012 Blackwell Publishing Ltd. Source

Kimura N.,Japan National Hospital Organization | Komuro K.,Japan National Hospital Organization | Uchino S.,Noguchi Thyroid Clinic and Hospital Foundation | Yagihashi S.,Hirosaki University | And 2 more authors.
Pathology International

A novel combination of tumors was found in a 68 year-old female with Multiple Endocrine Neoplasia type-1 (MEN 1) that included a cystic pancreatic endocrine neoplasm (CPEN), a pituitary adenoma, and multifocal cholesterol granulomas (MCGs) in the breast, pleura, and the extremities. The pancreatic tumor displayed a single central locule surrounded by a thin rim of neoplastic parenchyma. The tumor showed heterogeneity in the architecture that included glandular, trabecular and solid patterns. The tumor cells of the pancreas were immunohistochemically positive for both endocrine and pancreatic acinar markers including chromogranin A, synaptophysin, glucagon, lipase, and reg protein. Electron microscopy revealed that there were numerous smaller dense-cored neurosecretory granules, larger zymogen-like granules and microvilli on the apical side of the tumor cells. The pancreatic tumor was diagnosed as CPEN with acinar cell features. Analysis of the DNA extracted from the tissues revealed that there is a MEN1 germline mutation in exon 10 codon 527, and somatic mutation in exon 2 codon 32 in the pancreatic tumor, and one base pair deletion in exon 2 codon 79 in the pituitary adenoma. Here, we report the case and discuss possible pathogenesis of CPEN and MCGs in a patient with MEN 1. © 2010 Japanese Society of Pathology. Source

Imai T.,Aichi Medical University | Uchino S.,Noguchi Thyroid Clinic and Hospital Foundation | Okamoto T.,Tokyo Womens Medical University | Suzuki S.,Fukushima Medical University | And 3 more authors.
European Journal of Endocrinology

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. © 2013 European Society of Endocrinology. Source

Uchino S.,Noguchi Thyroid Clinic and Hospital Foundation
Nihon Geka Gakkai zasshi

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal, dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism and is divided into types 2A and 2B. Familial medullary thyroid carcinoma (FMTC) is characterized by the presence of medullary thyroid carcinoma alone in family members and is considered to be one of the subtypes of MEN2. Clinical and genetic data on 505 Japanese patients from 275 MEN2 or FMTC families registered at 54 medical institutions were collected by the MEN Consortium of Japan. The diagnosis was MEN2A in 343 (67.9%) patients, MEN2B in 29 (5.7%), FMTC in 103 (20.4%), and unclassified in 30 (5.9%). Medullary thyroid carcinoma was found in 91.2% of patients (437/479), pheochromocytoma in 45.6% (212/465), and primary hyperparathyroidism in 8.1% (37/457). RET genetic testing was performed in 410 patients, and the germline RET mutation was found in 98.8% (397/402). Source

Tachibana S.,Noguchi Thyroid Clinic and Hospital Foundation | Murakami T.,Noguchi Thyroid Clinic and Hospital Foundation | Noguchi H.,Noguchi Thyroid Clinic and Hospital Foundation | Noguchi Y.,Noguchi Thyroid Clinic and Hospital Foundation | And 2 more authors.
Endocrine Journal

The aim of this study was to demonstrate that the addition of orbital magnetic resonance (MR) imaging can provide improvement in sensitivity of detection of active disease and the prediction of the response to intravenous glucocorticoid therapy (ivGC), over clinical activity score (CAS) alone. A prospective case series was studied at our institution. Forty eight patients were examined by CAS and orbital MR imaging. The maximum of T2 relaxation times of extraocular muscles (maxT2RT) and other parameters were evaluated by MR imaging. Thirty five of 48 patients underwent ivGC. Twenty of 35 patients, whose CAS was 2 points or less, were evaluated for the response to ivGC. The correlation between CAS and maxT2RT was evaluated. Differentiation of active and inactive GO was performed by CAS and orbital MR imaging. The response to ivGC was evaluated by CAS, orbital MR imaging and ophthalmic parameters. As a result, CAS and maxT2RT showed significant positive correlation (r=0.58, p<0.0001), and 15 patients were positive by CAS and orbital MR imaging. However, 20 patients were positive by only MR imaging. In those 20 patients, there was significant improvement after ivGC. We concluded that orbital MR imaging combined with CAS could improve the sensitivity of detection of active disease and the prediction of the response to ivGC. In addition, even if only one parameter of CAS is positive, further examination with orbital MR imaging is advised. © The Japan Endocrine Society. Source

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