Genetic Screening in Hereditary Multiple Endocrine Neoplasia Type 1: Absence of a Founder Effect among Japanese Families

Sakurai, Akihiro; Katai, Miyuki; Itakura, Yasunori; Nakajima, Koji; Baba, Kiyoshi; Hashizume, Kiyoshi

doi:10.1111/j.1349-7006.1996.tb02130.x

Cited by 19 publications

(10 citation statements)

References 23 publications

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“…The patients may have only one type of gland involved or any combination, but in addition may have other less frequently associated features such as lipomas, carcinoids, and adrenocortical neoplasia. Although the majority of known MEN 1 families are of Caucasian origin, MEN 1 families of other ethnic groups have been described (2,3). Recently, the MEN1 gene, which was mapped to chromosomal region 11q13 (4), was identified by positional cloning (5,6).…”

mentioning

confidence: 99%

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism

Teh¹

1998

Journal of Clinical Endocrinology & Metabolism

106

100

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mentioning

confidence: 99%

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism

Teh¹

1998

Journal of Clinical Endocrinology & Metabolism

106

100

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“…[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] The majority of these patients were men (93%), with an average age of 43 years. Among the 43 patients whose MEN1 features were described, hyperparathyroidism was diagnosed in 40 (93%), an endocrine pancreatic tumor in 16 (37%), prolactinoma in 7 (16%), an adrenocortical tumor in 6 (14%), lipoma in 4 (9%), and a thyroid nodule in 2 (5%).…”

Section: Discussionmentioning

confidence: 99%

Thymic Carcinoid in a Patient with Multiple Endocrine Neoplasia Type 1: Report of a Case

et al. 2001

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We report herein the rare case of a 33-year-old man found to have a multiple endocrine neoplasia type 1 (MEN1)-associated carcinoid tumor in the thymus. A chest roentgenogram demonstrated an asymptomatic anterior mediastinal mass, 7 cm in diameter, and ultrasound-guided percutaneous Tru-Cut biopsy revealed a carcinoid tumor of the thymus. An extended thymectomy was performed through a median sternotomy and pathological examination confirmed the diagnosis of a thymic carcinoid tumor, which was mainly encapsulated with locally invasive growth into the pleura. Despite the absence of a family history of MEN1, he was treated for two pancreatic islet cell tumors, hyperparathyroidism, an adrenal tumor, and a retroperitoneal lipoma. MEN1 mutations were detected both in blood samples and pancreatic tumor tissues. He is now well without any evidence of tumor recurrence 27 months after the operation for the thymic carcinoid. MEN1 mutations were screened by direct nucleotide sequencing of all protein-coding regions of exons 2-10 of the MEN1 gene. Heterozygous germline mutation was detected in the blood sample analyses. Moreover, fresh-frozen pancreatic tumor tissues showed a loss of heterozygosity in the MEN1 region.

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“…In the event that no functional assays are available, a linkage study within the affected family may be informative. However, in order to draw a reliable conclusion, it requires a number of affected subjects within the family [11][12][13], and such analysis is rarely performed in practice. There was a report of a mutation, which was initially considered pathogenic but later turned out to be a rare benign polymorphism [14].…”

Section: Stability Analysis Of Variant Meninmentioning

confidence: 99%

A novel splice site mutation of the <i>MEN1</i> gene identified in a patient with primary hyperparathyroidism

Nagamura¹,

Yamazaki

Shimazu³

et al. 2012

Endocr J

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Multiple endocrine neoplasia type 1 (MEN1) is a relatively rare autosomal dominantly inherited condition characterized by hyperplastic and neoplastic disorder of endocrine organs such as the parathyroid, anterior pituitary and gastroenteropancreatic endocrine tissues [1]. Primary hyperparathyroidism (PHPT) is the most common disorder, and is usually the initial manifestation in MEN1. Its prevalence in MEN1 patients during lifetime is nearly 100%, and the average age of onset is during the third decade of life, which is much earlier than that of sporadic primary hyperparathyroidism [2,3] abstract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is responsible for multiple endocrine neoplasia type 1 (MEN1), a familial cancer syndrome characterized by pituitary, parathyroid and enteropancreatic tumors. Various mutations have been identified throughout the entire gene region in patients with MEN1 and its incomplete forms often manifested as familial isolated hyperparathyroidism and apparently sporadic parathyroid tumor. Mutation analysis of the MEN1 gene is a powerful tool for the early diagnosis of MEN1; however, the clinical significance of the identified mutations is not always obvious. In this study, a previously unreported missense MEN1 mutation, c.824G>T was identified in a patient with primary hyperparathyroidism and evaluated for its pathogenicity. This mutation was predicted to generate a putative missense menin protein, R275M. A stability test of the menin protein demonstrated that the stability of R275M mutant was reduced only slightly as compared with wild type menin, and therefore could not preclude the possibility that it was a rare benign polymorphism. However, further analysis of leukocyte mRNA and minigene experiments indicated that the mutant c.824G>T allele gives rise to abnormally spliced menin mRNA, and thereby confirmed that c.824G>T mutation is causative for MEN1. Thus, leukocyte mRNA analysis has been demonstrated useful to identify a splicing mutation of the MEN1 gene.

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Genetic Screening in Hereditary Multiple Endocrine Neoplasia Type 1: Absence of a Founder Effect among Japanese Families

Cited by 19 publications

References 23 publications

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism

Thymic Carcinoid in a Patient with Multiple Endocrine Neoplasia Type 1: Report of a Case

A novel splice site mutation of the <i>MEN1</i> gene identified in a patient with primary hyperparathyroidism

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