Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)

1999-05-01   Maurine R Hobbs 

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



Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)


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


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






99880 Hyperparathyroidism-jaw tumor syndrome





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


  • 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


    Cancer cytog

  • loss of heterozygosity of all of chromosome 1 has been seen in some HPT-JT parathyroid adenomas
  • Genes involved and Proteins


    Pubmed IDLast YearTitleAuthors
    4128761977Parathyroid carcinoma in familial hyperparathyroidism.Dinnen JS et al
    96253691998Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps.Fujikawa M et al
    99732881999Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.Hobbs MR et al
    75543191995Familial hyperparathyroidism associated with jaw fibroma: case report and literature review.Inoue H et al
    135837741958Hereditary hyperparathyroidism associated with recurrent pancreatitis.JACKSON CE et al
    21233611990Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.Jackson CE et al
    79125711994Familial primary hyperparathyroidism complicated with Wilms' tumor.Kakinuma A et al
    79554511994Familial isolated primary hyperparathyroidism.Kassem M et al
    52790241971Jaw lesions in familial hyperparathyroidism.Kennett S et al
    35924491987Familial cystic parathyroid adenomatosis.Mallette LE et al
    72830541981Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?Rosen IB et al
    77174051995Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.Szabó J et al
    89540161996Autosomal 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
    38568181985Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings.Warnakulasuriya S et al