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Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)

Written1999-05Maurine R Hobbs
University of Utah, Division of Endocrinology, 50 N. Medical Dr., Rm. 4C116, Salt Lake City, UT 84132, USA

(Note : for Links provided by Atlas : click)


Atlas_Id 10052
Genes implicated inCDC73  
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


  • phenotypic spectrum variable
  • 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
  • Evolution usually develop parathyroid adenomas by age 40 years old (range: 10-66 yrs)


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

    Gene NameCDC73 (cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae))
    Location 1q31.2


    The Parathyroids: Basic and Clinical Concepts. eds. Raven Press, New York
    Bilezikian JP, Marcus R, Levine MA
    1994 : 591-646.
    Parathyroid carcinoma in familial hyperparathyroidism.
    Dinnen JS, Greenwoood RH, Jones JH, Walker DA, Williams ED
    Journal of clinical pathology. 1977 ; 30 (10) : 966-975.
    PMID 412876
    Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps.
    Fujikawa M, Okamura K, Sato K, Mizokami T, Tamaki K, Yanagida T, Fujishima M
    European journal of endocrinology / European Federation of Endocrine Societies. 1998 ; 138 (5) : 557-561.
    PMID 9625369
    Familial hyperparathyroid syndromes.
    Hobbs MR, Heath H 3rd
    1998 : 187-189.
    Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.
    Hobbs MR, Pole AR, Pidwirny GN, Rosen IB, Zarbo RJ, Coon H, Heath H 3rd, Leppert M, Jackson CE
    American journal of human genetics. 1999 ; 64 (2) : 518-525.
    PMID 9973288
    Familial hyperparathyroidism associated with jaw fibroma: case report and literature review.
    Inoue H, Miki H, Oshimo K, Tanaka K, Monden Y, Yamamoto A, Kagawa S, Sano N, Hayashi E, Nagayama M
    Clinical endocrinology. 1995 ; 43 (2) : 225-229.
    PMID 7554319
    Hereditary hyperparathyroidism associated with recurrent pancreatitis.
    Annals of internal medicine. 1958 ; 49 (4) : 829-836.
    PMID 13583774
    Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.
    Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE
    Surgery. 1990 ; 108 (6) : 1006-1012.
    PMID 2123361
    Familial primary hyperparathyroidism complicated with Wilms' tumor.
    Kakinuma A, Morimoto I, Nakano Y, Fujimoto R, Ishida O, Okada Y, Inokuchi N, Fujihira T, Eto S
    Internal medicine (Tokyo, Japan). 1994 ; 33 (2) : 123-126.
    PMID 7912571
    Familial isolated primary hyperparathyroidism.
    Kassem M, Zhang X, Brask S, Eriksen EF, Mosekilde L, Kruse TA
    Clinical endocrinology. 1994 ; 41 (4) : 415-420.
    PMID 7955451
    Jaw lesions in familial hyperparathyroidism.
    Kennett S, Pollick H
    Oral surgery, oral medicine, and oral pathology. 1971 ; 31 (4) : 502-510.
    PMID 5279024
    Familial cystic parathyroid adenomatosis.
    Mallette LE, Malini S, Rappaport MP, Kirkland JL
    Annals of internal medicine. 1987 ; 107 (1) : 54-60.
    PMID 3592449
    Followup of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is a part of the syndrome.
    Pidwirny GN, Szabo J, Hobbs M, Heath H, Jackson CE
    Am J Hum Genet.57 : page A75.
    Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?
    Rosen IB, Palmer JA
    American journal of surgery. 1981 ; 142 (4) : 494-498.
    PMID 7283054
    Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.
    Szabó J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, Besser GM, Thakker RV, Huff V
    American journal of human genetics. 1995 ; 56 (4) : 944-950.
    PMID 7717405
    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, Farnebo F, Kristoffersson U, Sundelin B, Cardinal J, Axelson R, Yap A, Epstein M, Heath H 3rd, Cameron D, Larsson C
    The Journal of clinical endocrinology and metabolism. 1996 ; 81 (12) : 4204-4211.
    PMID 8954016
    Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings.
    Warnakulasuriya S, Markwell BD, Williams DM
    Oral surgery, oral medicine, and oral pathology. 1985 ; 59 (3) : 269-274.
    PMID 3856818


    This paper should be referenced as such :
    Hobbs, MR
    Hyperparathyroidism-jaw tumor syndrome (HPT-JT)
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):166-167.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

    Genes CDC73 PAF1

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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