Genetic aspects of adenomatosis of endocrine glands

Wermer, Paul

doi:10.1016/0002-9343(54)90353-8

Cited by 782 publications

(239 citation statements)

References 6 publications

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“…In MEN1, the incidence of PHP is known to be more than 95% [1,2,[8][9][10][11]. Gastrinoma and insulinoma are common enteropancreatic lesions in MEN 1, and prolactinoma is also a common pituitary lesion.…”

Section: Discussionmentioning

confidence: 99%

Different Phenotypes of Multiple Endocrine Neoplasia Type 1 (MEN1) in Monozygotic Twins Found in a Japanese MEN1 Family with MEN1 Gene Mutation.

et al. 2000

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Abstract.We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and genetic analysis revealed a point mutation (569de11, exon 3) of the MEN] gene. This mutation causes a frameshift and produces a stop codon at codon 184. Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 gene in six of the affected members including her two sisters, the monozygotic twins, and no such mutation in two unaffected members. In two generations of this family, eight of eleven family members had PHP and four of them were found to have other MEN1-related lesions. Both of the monozygotic twins had PHP. Interestingly, one had pancreatic tumor but the other had no evidence of it. Pituitary MRI showed no pituitary lesion in either of them. This is the first Japanese case of monozygotic twins with different MEN1 phenotypes.Key words: MEN1, Monozygotic, Twin, Japanese, Mutation (Endocrine Journal 47: 37-43, 2000) MULTIPLE endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder, the classical spectrum of which includes tumors of the parathyroid gland, anterior pituitary, and enteropancreatic region. Less frequently observed associations include foregut carcinoids, lipomas, adrenal tumors, and thyroid diseases. Parathyoid tumors are known to occur in more than 95% of MEN1 patients and primary hyperparathyroidism (PHP) is usually expressed at an early age [1 , 2] . The incidence of other MEN1-related lesions differs in various reports.

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Section: Discussionmentioning

confidence: 99%

Different Phenotypes of Multiple Endocrine Neoplasia Type 1 (MEN1) in Monozygotic Twins Found in a Japanese MEN1 Family with MEN1 Gene Mutation.

et al. 2000

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“…The predisposition to these neoplastic lesions is inherited in an autosomal dominant manner (2). In 1988, the MEN1 locus was first mapped to chromosome ll by linkage analysis of affected families (3).…”

Section: Introductionmentioning

confidence: 99%

Multiple Endocrine Neoplasia Type 1 Associated with Spinal Ependymoma.

et al. 1996

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A 51-year-old man was hospitalized with a gait disturbance and hypoesthesia below the level of his chest. These symptomswere due to a spinal tumor which was surgically resected and identified as an ependymoma. Additionally, the patient had hypercalcemia and a family history of insulinoma. An endocrine evaluation revealed parathyroid hyperplasia and a pancreatic islet cell tumor. Magnetic resonance imaging disclosed a pituitary microadenoma. He was diagnosed with spinal ependymomaand multiple endocrine neoplasia type 1 (MEN1). A review of the literature revealed that chromosome Ilql3 abnormalities have been reported in both ependymomaand MEN1. We discuss the pathogenesis of these diseases.

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“…is an autosomal dominant disorder characterized by tumors of the parathyroids, gastrointestinal endocrine tissues and anterior pituitary [2][3][4].…”

Section: Familial Primary Hyperparathyroidismmentioning

confidence: 99%

Germline Mutation of the Multiple Endocrine Neoplasia Type 1(MEN1) Gene in a Family with Primary Hyperparathyroidism.

et al. 1998

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Abstract. Familial primary hyperparathyroidism(FHP) is a rare hereditary disorder characterized by isolated parathyroid tumors without any other lesions related to multiple endocrine neoplasia (MEN). Primary hyperparathyroidism is usually expressed at an early age and is highly penetrated in MEN type 1(MEN1), suggesting that some FHP may be a variant type or early stage of MEN1. The MEN1 gene has recently been cloned and its germline mutations have been considered to play an important role in the tumorigenesis of MEN1. We studied a Japanese family with primary hyperparathyroidism which included 4 patients. To investigate the possible relationship between primary hyperparathyroidism in this family and the MEN1 gene, we analyzed a proband for a germline mutation of the MEN1 gene in this study. We identified a novel heterozygous mutation (1350de13) at codon 414 in exon 9. Restriction digestion analysis revealed the same mutation pattern in his brother with hyperparathyroidism. These findings suggest that our patients may belong to a variant type of MEN1.

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Genetic aspects of adenomatosis of endocrine glands

Cited by 782 publications

References 6 publications

Different Phenotypes of Multiple Endocrine Neoplasia Type 1 (MEN1) in Monozygotic Twins Found in a Japanese MEN1 Family with MEN1 Gene Mutation.

Different Phenotypes of Multiple Endocrine Neoplasia Type 1 (MEN1) in Monozygotic Twins Found in a Japanese MEN1 Family with MEN1 Gene Mutation.

Multiple Endocrine Neoplasia Type 1 Associated with Spinal Ependymoma.

Germline Mutation of the Multiple Endocrine Neoplasia Type 1(MEN1) Gene in a Family with Primary Hyperparathyroidism.

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