MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

Kihara, Minoru; Miyauchi, Akira; Ito, Yasuhiro; Yoshida, Hiroshi; Miya, Akihiro; Kobayashi, Kaoru; Takamura, Yuuki; Fukushima, Mitsuhiro; Inoue, Hiroyuki; Higashiyama, Takuya; Tomoda, Chisato

doi:10.1507/endocrj.k08e-265

Cited by 11 publications

(10 citation statements)

References 31 publications

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“…None of the missense variants were present in 3,244 control chromosomes. Additionally, two of the MEN1 gene missense mutations (E45G and P193L) have previously been described [24,25]. The frequency of genotypes in commonly occurring SNPs of the MEN1, CASR, and HRPT2/CDC73 genes in the current cohort (mainly of Western European descent) were similar to the HapMap CEU population (Utah residents of Northern and Western European ancestry; supplementary Table 2).…”

Section: Resultssupporting

confidence: 57%

“…However, the mean age of parathyroidectomy in a large family with an atypical CASR gene mutation causing a phenotype which resembles PHPT was 44 years of age [29]. Studies evaluating the frequency of MEN1 gene germline mutations in PHPT patients have previously used an arbitrary cut-off of 30 years of age [25,30]. These studies, however, did not analyze the prevalence of CASR and HRPT2/CDC73 gene mutations; the number of analyzed subjects was relatively low.…”

Section: Discussionmentioning

confidence: 99%

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Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

et al. 2011

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Familial primary hyperparathyroidism (FPHPT) may occur due to an underlying germ-line mutation in the MEN1, CASR, or HRPT2/CDC73 genes. The disease may be undiagnosed in the absence of a history suggestive of FHPT. Young PHPT patients (≤45 years of age) are more likely to harbor occult FPHPT. A total of 1,161 (136 were ≤45 years of age) PHPT patients underwent parathyroidectomy from 2001 to 2009. Thirty-four patients declined participation. Sixteen patients were diagnosed in the clinical routine with FPHPT (11 MEN1, four MEN2A, and one HPT-JT) and were not included in the genetic analysis. Eighty-six young (≤45 years of age) patients with clinically non-syndromic PHPT underwent genetic analysis. Sanger sequencing of all coding regions of the MEN1, CASR, and the HRPT2/CDC73 genes was performed. Eight of 86 (9.3%) young patients with clinically non-familial PHPT displayed deleterious germ-line mutations in the susceptibility genes (4 MEN1, 3 CASR, and 1 HRPT2/CDC73). There was one insertion, one deletion, two nonsense, and four missense mutations, all predicted to be highly damaging to protein function and absent in 3,244 control chromosomes. Germ-line mutations in known susceptibility genes within young patients with PHPT, including those diagnosed in the clinical routine, was 24/102 (23.5%; 15 MEN1, four RET, three CASR, and two HRPT2/CDC73). We demonstrate that germ-line inactivating mutations in susceptibility genes are common in young patients with clinically non-familial PHPT. Thus, enhanced use of genetic analysis may be warranted in clinically non-familial young PHPT patients.

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Section: Resultssupporting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

et al. 2011

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“…140,142); (v) parathyroid adenomas involving multiple glands 140,142 ; or (vi) parathyroid adenoma with family history of hyperparathyroidism or MEN1-associated tumors.…”

Section: Multiple Endocrine Neoplasia Type I (Omim 131100)mentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

450

326

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Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

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“…The testing should be considered in patients with additional risk factors such as multiple gland disease, past history, or coexistence of other tumours characteristic for MEN-1, family history of hyperparathyroidism or MEN-1 tumours [56]. …”

Section: Screening For Primary Hyperparathyroidism In Men-1mentioning

confidence: 99%

Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1

Piecha

Chudek²,

Wiȩcek³

2010

International Journal of Endocrinology

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Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1). This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of MEN-1, which usually appears in the second decade of life as an asymptomatic hypercalcemia and progresses through the next decades. The most frequent clinical presentation of MEN-1-associated primary hyperparathyroidism is bone demineralisation and recurrent kidney stones rarely followed by chronic kidney disease. The aim of this paper is to present the pathomechanism, screening procedures, diagnosis, and management of primary hyperparathyroidism in the MEN-1 syndrome. It also summarises the recent advances in the pharmacological therapy with a new group of drugs—calcimimetics.

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MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

Cited by 11 publications

References 31 publications

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1

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