Primary hyperparathyroidism in multiple endocrine neoplasia type 2A

Raue, Friedhelm; Kraimps, Jean‐Louis; Dralle, Henning; Cougard, P; Proye, C; Frilling, A.; Limbert, Edward; Llenas, Lluís Forga; Niederle, Bruno

doi:10.1111/j.1365-2796.1995.tb01212.x

Cited by 115 publications

(89 citation statements)

References 12 publications

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“…The underlying pathophysiology of CLA may be related to a sensory abnormality in the C6-T6 dermatomes resulting in pruritus and chronic irritation (104,105). HPT, which occurs in 20% of patients with MEN 2A, is also associated most commonly with codon 634 mutations and less frequently with mutations in codons 609, 611, 618, 620, 790, and 791 (106). The C634R mutation specifically correlates with a higher risk of HPT (103).…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

Kouvaraki

Shapiro

Perrier

et al. 2005

Thyroid

266

193

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Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine kinase domains cause one of three distinctive clinical subtypes: familial MTC, multiple endocrine neoplasia (MEN) type 2A (including variants with Hirschsprung's disease and cutaneous lichen amyloidosis), and MEN 2B. Hallmarks of MEN 2A include MTC, pheochromocytoma, and hyperparathyroidism. MEN 2B is associated with an earlier onset of MTC and pheochromocytoma, the absence of hyperparathyroidism, and the presence of striking physical stigmata (e.g., coarse facies, ganglioneuromatosis, and marfanoid habitus). Familial MTC is not associated with other endocrine neoplasms; however, the accurate distinction between familial MTC and MEN 2A may be difficult in kindreds with small size, incomplete histories, or a predominance of young individuals who may not have yet fully manifested the syndrome. Genetic testing detects greater than 95% of mutation carriers and is considered the standard of care for all first-degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and the extent of surgery are based upon a model that utilizes genotype-phenotype correlations to stratify mutations into three risk levels. 531

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

Kouvaraki

Shapiro

Perrier

et al. 2005

Thyroid

266

193

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“…6 Type of mutation predicts risk of pheochromocytoma and adenoma of parathyroid glands. 15 These problems require lifelong attention. Management (please describe) Molecular diagnosis before age 4 allows therapy depending on the mutated codon in the RET proto-oncogene.…”

Section: Prognosis (Please Describe)mentioning

confidence: 99%

Clinical utility gene card for: multiple endocrine neoplasia type 2

Raue¹,

Rondot²,

Schulze³

et al. 2011

Eur J Hum Genet

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“…HPT in MEN2 usually is mild and usually occurs only in RET 634 carriers. A 20% penetrance rate is documented for MEN2; therefore, it is not the primary consideration in the differential diagnosis of hereditary HPT (24). CASR mutation screening in FIHP should be considered when there is mild asymptomatic hypercalcaemia without other pathologies.…”

Section: How To Involve Genetic Information In Clinical Practicementioning

confidence: 99%

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Frank‐Raue¹,

Haag²,

Schulze³

et al. 2011

European Journal of Endocrinology

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Objective: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumours. Disease-causing mutations have been localised in the tumour suppressor gene CDC73. There is limited information available on the mutations, and resulting phenotypes and long-term follow-up data are especially scarce. Design: We analysed the clinical data from 16 patients (including three families) carrying mutations in the CDC73 gene. We describe five new mutations/gene variants, the corresponding phenotypes of these carriers and the long-term follow-up. Methods: The 16 patients were evaluated at an endocrine outpatient clinic and at a surgical department. DNA samples were obtained for sequence analysis of the CDC73 gene. Results: Clinical features of HPT-JT syndrome were detected in 13 of the 15 carriers with germline CDC73 mutations. The major features were benign (nZ7; 47%) or cancerous (nZ3; 20%) HPT-JT was present in eight cases (53%). Most patients had severe hypercalcaemia, and median serum calcium levels were 3.36 mmol/l. A patient with non-secretory parathyroid carcinoma was included. HPT was diagnosed at a median age of 28.5 years. Mutational analysis of the CDC73 gene identified eight sequence changes, three of them have been reported previously, whereas five are novel: c.1346delG, c.88_94delTTCTCCT, the non-coding variants, c.307C5GOT and c.424K5TOC and c.*12COA of unknown significance. Conclusions: This study significantly increases the information available on the mutations and phenotypes of HPT-JT syndrome.

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Primary hyperparathyroidism in multiple endocrine neoplasia type 2A

Cited by 115 publications

References 12 publications

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

Clinical utility gene card for: multiple endocrine neoplasia type 2

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

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