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

Fujikawa, Megumi; Okamura, Ken; Sato, Kaori; Mizokami, Tetsuya; Tamaki, Koichi; Yanagida, Tomoko; Fujishima, Masatoshi

doi:10.1530/eje.0.1380557

Cited by 27 publications

(13 citation statements)

References 25 publications

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“…It is characterised by the presence of hyperparathyroidism, usually due to parathyroid adenoma or carcinoma, in association with various tumours of the jaw. Various visceral tumours or cysts have been reported in association with this syndrome, including renal harmatomas, cystic kidney disease and multiple uterine myomata (28,29). However, our patient does not fit this syndrome as there was no evidence of jaw tumours.…”

Section: European Journal Of Endocrinology (1999) 140contrasting

confidence: 52%

The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis

Li-Fern

Rajasoorya²

1999

European Journal of Endocrinology

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A 39-year-old Chinese man with hypertension being evaluated for elevated serum alkaline phosphatase (SAP) levels was found to have an incidental right adrenal mass. The radiological features were characteristic of a large adrenal myelolipoma. This mass was resected and the diagnosis confirmed pathologically. His blood pressure normalised after removal of the myelolipoma, suggesting that the frequently observed association between myelolipomas and hypertension may not be entirely coincidental. Persistent elevation of the SAP levels and the discovery of hypercalcaemia after surgery led to further investigations which confirmed primary hyperparathyroidism due to a parathyroid adenoma. The patient's serum biochemistry normalised after removal of the adenoma.The association of adrenal myelolipoma with primary hyperparathyroidism has been reported in the literature only once previously. Although unconfirmed by genetic studies this association may possibly represent an unusual variation of the multiple endocrine neoplasia type 1 syndrome.

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Section: European Journal Of Endocrinology (1999) 140contrasting

confidence: 52%

The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis

Li-Fern

Rajasoorya²

1999

European Journal of Endocrinology

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“…Another maxillofacial fibro-osseous lesion that is seen in hyperparathyroidism is ossifying fibroma [153][154][155][156][157][158][159][160]. In this condition, referred to as hyperparathyroidism-jaw tumor syndrome, patients suffer from familial parathyroid adenomas, ossifying fibroma of the jaws, renal cysts and Wilms tumors.…”

Section: Hyperparathyroidismmentioning

confidence: 99%

Benign Fibro-Osseous Lesions of the Craniofacial Complex A Review

Eversole

El‐Mofty

2008

Head and Neck Pathol

275

357

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Benign fibro-osseous lesions of the craniofacial complex are represented by a variety of disease processes that are characterized by pathologic ossifications and calcifications in association with a hypercellular fibroblastic marrow element. The current classification includes neoplasms, developmental dysplastic lesions and inflammatory/reactive processes. The definitive diagnosis can rarely be rendered on the basis of histopathologic features alone; rather, procurement of a final diagnosis is usually dependent upon assessment of microscopic, clinical and imaging features together. Fibrous dysplasia and osteitis deformans constitute two dysplastic lesions in which mutations have been uncovered. Other dysplastic bone diseases of the craniofacial complex include florid osseous dysplasia, focal cemento-osseous dysplasia and periapical cemental dysplasia, all showing a predilection for African descent individuals; although no specific genetic alterations in DNA coding have yet to be uncovered and most studies have been derived from predominant high African descent populations. Ossifying fibromas are neoplastic lesions with four subtypes varying with regard to behavior and propensity for recurrence after surgical excision. The clinicopathologic and molecular features of this unique yet heterogeneous group of diseases are reviewed.

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“…HPT-JT is an autosomal dominant syndrome with high but incomplete penetrance (Jackson et al, 1990). The major features are primary hyperparathyroidism (90%) including 15% of all affected by HPT-JT with parathyroid cancer, jaw tumors (30%), bilateral renal cysts (10%), and less commonly solid renal tumors (Jackson, 1958;Firat and Stutzman, 1968;Kennett and Pollick, 1971;Dinnen et al, 1977;Rosen and Palmer, 1981;Warnakulasuriya et al, 1985;Mallette et al, 1987;Jackson et al, 1990;Streeten et al, 1992;Visset et al, 1992;Wassif et al, 1993;Kakinuma et al, 1994;Inoue et al, 1995;Szabo et al, 1995;Teh et al, 1996Teh et al, , 1998Fujikawa et al, 1998;Yoshimoto et al, 1998;Cavaco et al, 2001;Simonds et al, 2002). Nearly 10% of mutation carriers appear to remain clinically silent in adulthood (Teh et al, 1996;Simonds et al, 2002).…”

mentioning

confidence: 99%

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

et al. 2004

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Parafibromin is the 531-amino-acid protein product encoded by HRPT2, a putative tumor suppressor gene recently implicated in the autosomal dominant hyperparathyroidism-jaw tumor familial cancer syndrome, sporadic parathyroid cancer, and a minority of families with isolated hyperparathyroidism. Parafibromin contains no identified functional domains but bears sequence homology to Cdc73p, a budding yeast protein component of the RNA polymerase II-associated Paf1 complex. This study addressed the expression and functional properties of human parafibromin. A survey of human and mouse tissues analysed with polyclonal antibodies to parafibromin showed specific immunoreactivity in adrenal and parathyroid glands, kidney, heart, and skeletal muscle. Subcellular fractionation and laser confocal microscopy of normal human parathyroid gland demonstrated expression of parafibromin in both the cytoplasmic and nuclear compartments. Parafibromin was expressed in four parathyroid adenomas but was absent from two parathyroid carcinomas. Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. These results demonstrate that human parafibromin is a nucleocytoplasmic protein with functions consistent with its postulated role as a tumor suppressor protein.

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

Cited by 27 publications

References 25 publications

The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis

The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis

Benign Fibro-Osseous Lesions of the Craniofacial Complex A Review

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

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