Parathyroid carcinoma in familial hyperparathyroidism.

Dinnen, J. S.; Greenwoood, R H; Jones, John F.; Walker, Dixon; Williams, E. D.

doi:10.1136/jcp.30.10.966

Cited by 97 publications

(45 citation statements)

References 21 publications

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“…Since multiple parathyroid adenomas are rare in the general population, this family supported the genetic origin of the disease. Parathyroid carcinomas were reported in 6 of the 19 families (1,3,(7)(8)(9). Jaw tumor is the most common complication of FIHP (2-7, 9, 14) and other tumors in the thyroid, colon, kidney, or uterus have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…This observation could explain the data of Kassem et al (13) suggesting that some cases of FIHP are linked to chromosome 11q13, possibly the MEN-1 locus. However, many FIHP families have shown unique clinical features: (i) frequently observed jaw tumors such as ossifying fibromas or cementifying fibromas (2-7), and (ii) a high prevalence of parathyroid adenomas (2)(3)(4)(5)(6)(7)(8)(14)(15)(16)(17)(18)(19)(20) and carcinomas (1,3,(7)(8)(9).…”

Section: Discussionmentioning

confidence: 99%

“…Unusual jaw lesions such as ossifying fibromas (2-4), or cementifying fibromas (5-7) are sometimes present; malignant change of the parathyroid tumor (1,3,(7)(8)(9) has been reported in several families. Recently, FIHP was suggested to be a clinically and even genetically distinct syndrome from the multiple endocrine neoplasia (MEN) syndrome and from familial hypocalciuric hypercalcemia (10); FIHP is probably related to a dominant oncogene/suppressorgeneonchromosome1 (1,2,4,11).…”

Section: Introductionmentioning

confidence: 99%

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Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

Fujikawa

Okamura

Sato

et al. 1998

European Journal of Endocrinology

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We describe three siblings with hyperparathyroidism due to multiple parathyroid adenomas without evidence of other endocrinological abnormalities. A 22-year-old woman had two parathyroid adenomas complicated by multiple ossifying jaw fibromas. Her sister, aged 29, also suffered from primary hyperparathyroidism associated with two parathyroid adenomas one of which was also suspected to be a carcinoma. These two female patients had unusual multiple small uterine polyps, which were diagnosed as adenomyomatous polyps. Their brother, aged 17, had two parathyroid adenomas complicated by urolithiasis. These three patients are characterized by young adult-onset familial isolated hyperparathyroidism due to multiple adenomas with various complications including ossifying jaw fibroma and uterine adenomyomatous polyps. These clinical features are different from those of familial hyperparathyroidism associated with multiple endocrine neoplasia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

Fujikawa

Okamura

Sato

et al. 1998

European Journal of Endocrinology

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“…Non-familial pHPT accounts for more than 95% of the cases, while the remaining cases occur in the setting of inherited disorders: multiple endocrine neoplasia type 1 or type 2 (MEN1 or MEN2) and more rarely HPT-jaw tumour (HPT-JT) syndrome, caused by germline mutations in MEN1 tumour suppressor gene, RET proto-oncogene and HRPT2 (CDC73) tumour suppressor gene (3,4). Additionally, germline mutations in CDKN1B, the gene coding for the cyclin-dependent kinase inhibitor p27 Kip1 , were identified in a few families bearing a MEN1-like syndrome, thus evidencing a p27…”

Section: Introductionmentioning

confidence: 99%

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism

Alvelos

Vinagre

Fonseca

et al. 2013

European Journal of Endocrinology

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Objective: Primary hyperparathyroidism (pHPT) is characterised by an inappropriate over production of parathyroid hormone and it is the most frequent pathological condition of the parathyroid glands. A minority of the cases belong to familial forms, but most of them are sporadic. The genetic alterations underlying the sporadic forms of pHPT remain poorly understood. The main goal of our study is to perform the molecular characterisation of a series of sporadic pHPT cases. Design and methods: We have studied matched blood and tumour from 24 patients with pHPT, who went to a medical appointment in Hospital Pedro Hispano. Informed consent was obtained from all individuals. The MEN1, RET and CDKN1B molecular study was carried out in the germline DNA by PCR/SSCP and direct sequencing. Parathyroid tumours were further analysed by the same methods for MEN1, CDKN1B and CTNNB1 genetic alterations. The multiplex ligation-dependent probe amplification technique enabled the evaluation of MEN1 gene deletions. Protein expression for menin, cyclin D1, parafibromin, p27Kip1 , b-catenin and Ki-67 was conducted by immunohistochemistry. Results: The study of parathyroid tumours detected two somatic MEN1 mutations (c.249_252delGTCT and c.115_163del49bp) and revealed the presence of MEN1 intragenic deletions in 54% (13/24) of the tumours. In RET and CDKN1B genes only previously described, non-pathogenic variants were found. Cyclin D1 protein was overexpressed in 13% (3/24) of tumours. Conclusions: These results suggest that MEN1 alterations, remarkably intragenic deletions, may represent the most prevalent genetic alteration in sporadic parathyroid tumours.

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“…Apesar da raridade de ambos os distúrbios, a associação de carcinoma de paratireóide em famílias com HFI é descrita como não incomum (14,15). Ressalta-se que nenhum gene foi associado exclusivamente ao HFI até o momento.…”

Section: Discussão E Conclusõesunclassified

Hiperparatireoidismo primário familiar isolado: análise e descrição de uma família com seis casos índices

Moulin

Cantoni

Neto

et al. 2007

Arq Bras Endocrinol Metab

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RESUMOObjetivamos descrever e analisar uma família com seis casos de hiperparatireoidismo familiar isolado (HFI), uma rara doença hereditária de padrão autossômico dominante, caracterizada por hiperparatireoidismo primário sem associação com outras doenças ou tumores endocrinológicos. O diagnóstico foi realizado através da demonstração de hipercalcemia, aumento dos níveis de paratormônio e tumores de paratireóide à histopatologia, excluindo-se neoplasias endócrinas múltiplas do tipo 1 (NEM 1) e do tipo 2a (NEM 2a), além da síndrome hiperparatireoidismo/tumor de mandíbula (HPT/TM). Analisamos a descrição dos exames diagnósticos iniciais, a abordagem cirúrgica, os laudos histopatológicos pós-operatórios e suas evoluções. A primeira paciente operada neste instituto há 20 anos, recidivou onze anos após, e possuía uma irmã com diagnóstico prévio, o que motivou a investigação de outros familiares. A observação do caráter familial nesses pacientes contribuiu para a facilitação diagnóstica e encaminhamento terapêutico dos mesmos, assim como a orientação clínica e genética à família. ABSTRACT Familial Isolated Primary Hyperparathyroidism -Description and Analyses of Six Cases.Our objective is to evaluate and describe one family with six cases of familial isolated primary hyperparathyroidism (HFI), a rare hereditable disorder with an autossomal dominant mode of inheritance. It is characterized by a primary hyperparathyroidism without association with other endocrine tumors or diseases. The HFI diagnosis relied on the demonstration of hypercalcemia, inappropriately high levels of parathyroid hormone, and parathyroid adenomas, plus exclusion of NEM 1/2a and HPT/TM syndrome in this family. We analyzed the description of the first diagnosis, surgical approach, postoperative histopathological results and their development process. The first patient, treated in our institute twenty years ago, has recidivated eleven years after the treatment. Her sister had had the same diagnosis, which motivated us to investigate theirs relatives. The analysis of the characteristics that run in these patients' family has contributed to facilitate their diagnosis and therapeutic treatment, including clinical and genetic orientation of this family.

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Parathyroid carcinoma in familial hyperparathyroidism.

Cited by 97 publications

References 21 publications

Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism

Hiperparatireoidismo primário familiar isolado: análise e descrição de uma família com seis casos índices

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