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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

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Identity

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

Clinics

Note
  • 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)

    Cytogenetics

    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

    Bibliography

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    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.
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    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.
     
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    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.
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    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.
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    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.
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    Oral surgery, oral medicine, and oral pathology. 1985 ; 59 (3) : 269-274.
    PMID 3856818
     

    Citation

    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 : http://AtlasGeneticsOncology.org/Tumors/Hyperpar-JawID10052.html


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