Six novelMEN1 gene mutations in sporadic parathyroid tumors

Cetani, Filomena; Pardi, Elena; Giovannetti, Anna; Cerrai, Paola; Borsari, Simona; Vignali, Edda; Picone, A; Cianferotti, Luisella; Miccoli, Paolo; Pinchera, Aldo; Marcocci, Claudio

doi:10.1002/1098-1004(200011)16:5<445::aid-humu12>3.0.co;2-6

Cited by 16 publications

(17 citation statements)

References 8 publications

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“…This will lead to a nonsense peptide sequence from this position on and a premature termination of protein synthesis. The DNA change in our patients with MEN1, IVS5 ϩ 1GϾA or 934 ϩ 1GϾA, is located near a reported mutation (934 ϩ 2bp in the splice junction of exon 5) in sporadic parathyroid tumors (24). This also implies a loss of function by this type of mutation.…”

Section: Discussionmentioning

confidence: 50%

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Frank‐Raue¹,

Rondot²,

Hoeppner³

et al. 2005

The Journal of Clinical Endocrinology & Metabolism

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Section: Discussionmentioning

confidence: 50%

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Frank‐Raue¹,

Rondot²,

Hoeppner³

et al. 2005

The Journal of Clinical Endocrinology & Metabolism

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“…DNA from formalin-fixed paraffin-embedded tumor tissues (carcinoma obtained in September 2006 and adenoma in June 2007) was extracted, as previously described (11) and loss of heterozygosity (LOH) at the MEN1 genetic locus (chromosome 11q13.1) was assessed as described previously (18). Subcloning of exon 3 was performed using the Strataclone PCR Cloning kit (Agilent Technologies, Inc., Santa Clara, CA, USA) following the manufacturer's protocol.…”

Section: Methodsmentioning

confidence: 99%

Novel association of MEN1 gene mutations with parathyroid carcinoma

et al. 2017

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Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study presents the case of a 48-year-old female who presented with multigland pHPT and multiple pancreatic lesions. The patient underwent surgery several times for the excision of parathyroid hyperplasia, carcinoma and adenoma. The MEN1 gene was screened, revealing three variants (in cis) at the intron/exon 3 boundary (IVS2-3G>C, c.497A>T and c.499G>T) detected on the DNA of the proband, not shared by her relatives. RNA sequencing revealed that the IVS2-3C>G variant caused the skipping of the exon 3. Therefore, the present study reports on a novel rare association of MEN1 syndrome and parathyroid carcinoma. The reported splicing mutation was previously identified in subjects who always developed malignant lesions; thus, a possible genotype-phenotype association may be considered.

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“…Its effects on proliferation are mediated by the phosphorylation of retinoblastoma protein (RB). Biallelic-acquired inactivating MEN1 mutations have been described in 12–35% of sporadic parathyroid adenomas 79–81 .…”

Section: Mechanisms/pathophysiologymentioning

confidence: 99%

Primary hyperparathyroidism

Bilezikian

Cusano

Khan

et al. 2016

Nat Rev Dis Primers

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215

166

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Primary hyperparathyroidism (PHPT) is a common disorder in which parathyroid hormone (PTH) is excessively secreted from one or more of the four parathyroid glands. A single benign parathyroid adenoma is the cause in most people. However, multiglandular disease is not rare and is typically seen in familial PHPT syndromes. The genetics of PHPT is usually monoclonal when a single gland is involved and polyclonal when multiglandular disease is present. The genes that have been implicated in PHPT include proto-oncogenes and tumour-suppressor genes. Hypercalcaemia is the biochemical hallmark of PHPT. Usually, the concentration of PTH is frankly increased but can remain within the normal range, which is abnormal in the setting of hypercalcaemia. Normocalcaemic PHPT, a variant in which the serum calcium level is persistently normal but PTH levels are increased in the absence of an obvious inciting stimulus, is now recognized. The clinical presentation of PHPT varies from asymptomatic disease (seen in countries where biochemical screening is routine) to classic symptomatic disease in which renal and/or skeletal complications are observed. Management guidelines have recently been revised to help the clinician to decide on the merits of a parathyroidectomy or a non-surgical course. This Primer covers these areas with particular attention to the epidemiology, clinical presentations, genetics, evaluation and guidelines for the management of PHPT.

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Six novelMEN1 gene mutations in sporadic parathyroid tumors

Cited by 16 publications

References 8 publications

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Novel association of MEN1 gene mutations with parathyroid carcinoma

Primary hyperparathyroidism

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