Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)

1999-05-01 Maurine R Hobbs Affiliation

University of Utah, Division of Endocrinology, 50 N. Medical Dr., Rm. 4C116, Salt Lake City, UT 84132, USA

Identity

Name

Note

some Familial Isolated Primary Hyperparathyroidism (FIHP) families have been mapped to this locus

Inheritance

autosomal dominant, early onset, highly penetrant, reported in caucasians and Japanese so far

Omim

145001

Mesh

C563273

Orphanet

99880 Hyperparathyroidism-jaw tumor syndrome

Umls

Clinics

Evolution

usually develop parathyroid adenomas by age 40 years old (range: 10-66 yrs)

Note

growth: normal

head: normal

skin: normal

hyperparathyroidism, jaw tumors, and kidney cysts

hyperparathyroidism develops in about 95% of affected individuals due to parathyroid adenomas which can occur singley or multiply, with some patients undergoing several parathyroidectomies over the course of their lives

parathyroid carcinoma develops in about 5% of patients (compare to 1 in 5 million in the general population)

the jaw tumors consist of trabeculae of woven bone set in a cytologically bland fibrocellular stroma

about 50% develop fibro-osseous tumors of the maxilla or mandible, which may recur and are independent of the course of the parathyroid adenomas

some families display an increased risk of developing kidney cysts (nephroblastomas or hamartomas) or adult Wilms tumors

surgical removal of neoplastic tissues

regular serum calcium level screening is a cost effective method to catch the development of parathyroid adenomas at an early stage

dental x-rays are not recommended; may increase risk of development of jaw tumors

Cytogenetics

Inborn condition

normal

Cancer cytog

loss of heterozygosity of all of chromosome 1 has been seen in some HPT-JT parathyroid adenomas

Genes involved and Proteins

Bibliography

Pubmed ID	Last Year	Title	Authors
412876	1977	Parathyroid carcinoma in familial hyperparathyroidism.	Dinnen JS et al
9625369	1998	Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps.	Fujikawa M et al
9973288	1999	Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.	Hobbs MR et al
7554319	1995	Familial hyperparathyroidism associated with jaw fibroma: case report and literature review.	Inoue H et al
13583774	1958	Hereditary hyperparathyroidism associated with recurrent pancreatitis.	JACKSON CE et al
2123361	1990	Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.	Jackson CE et al
7912571	1994	Familial primary hyperparathyroidism complicated with Wilms' tumor.	Kakinuma A et al
7955451	1994	Familial isolated primary hyperparathyroidism.	Kassem M et al
5279024	1971	Jaw lesions in familial hyperparathyroidism.	Kennett S et al
3592449	1987	Familial cystic parathyroid adenomatosis.	Mallette LE et al
7283054	1981	Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?	Rosen IB et al
7717405	1995	Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.	Szabó J et al
8954016	1996	Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.	Teh BT et al
3856818	1985	Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings.	Warnakulasuriya S et al