# Hyperparathyroidism-jaw tumour syndrome (CDC73-related parathyroid carcinoma)

Source: https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/  
OnCo record `hyperparathyroidism-jaw-tumour-syndrome` (Cancer). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Hyperparathyroidism-jaw tumour syndrome is an inherited condition in which a faulty CDC73 gene causes parathyroid tumours, and in about one in five people a parathyroid carcinoma, together with bony tumours of the jaw and kidney and womb growths. It matters because it is the commonest inherited route to parathyroid carcinoma and a reason to test the gene in anyone with that cancer.

## Summary

The syndrome is autosomal dominant and is caused by germline inactivating mutations of CDC73 (formerly HRPT2), which encodes parafibromin; the gene was identified in 2002 by finding 13 different heterozygous germline mutations in 14 affected families, and somatic mutations in the same gene were then found in most sporadic parathyroid carcinomas (Carpten 2002). Primary hyperparathyroidism is the main finding, usually from a single parathyroid gland (80 percent of cases), unlike the multigland disease of MEN1; fibro-osseous (ossifying fibroma) tumours of the mandible or maxilla, renal cysts, hamartomas or Wilms tumour, and uterine tumours complete the picture (Torresan 2019). Loss of nuclear parafibromin on immunohistochemistry distinguishes parathyroid carcinomas and HPT-JT adenomas from sporadic adenomas (Gill 2006). The WHO endocrine classification lists the syndrome among the genetic tumour syndromes.

How it differs from its parent: the parent page covers parathyroid carcinoma of any cause, most of it sporadic; this page is the inherited setting in which the cancer arises early and can recur in other glands, so surgery, surveillance and family testing are planned differently. About 15 to 20 percent of people with the syndrome develop parathyroid carcinoma against about 1 percent of all hyperparathyroidism (Kelly 2015; Torresan 2019).

Treatment: surgery is the treatment of choice for the hyperparathyroidism, and the extent, from focused removal of the affected gland to bilateral neck exploration, is debated because further glands can be affected later (Torresan 2019). Carcinoma is treated as on the parent page, with en bloc resection and cinacalcet for uncontrolled calcium; there is no drug trial in this syndrome. Carriers need lifelong calcium and parathyroid hormone monitoring, jaw and renal imaging, and their relatives should be offered CDC73 testing (Torresan 2019).

## Fields

- Kind: Cancer
- Last checked: 2026-09-24
- Also known as: HPT-JT; HPT-JT syndrome; Hyperparathyroidism-jaw tumour syndrome associated (germline CDC73); CDC73-related disorder; HRPT2-related hyperparathyroidism
- Tags: subtype-page; wave4; rare
- Group: endocrine
- Burden: Orphanet lists it as a rare disease (ORPHA:99880); about 100 cases had been published by 2015 and the true incidence is unknown (Kelly 2015). Parathyroid carcinoma develops in about 15 to 20 percent of affected people (Kelly 2015; Torresan 2019).
- Subtypes: HPT-JT with parathyroid adenoma or atypical parathyroid tumour; HPT-JT with parathyroid carcinoma (about 15 to 20 percent of carriers); CDC73-related familial isolated hyperparathyroidism
- Biomarkers: Germline CDC73 mutation; Loss of nuclear parafibromin on immunohistochemistry; Calcium and parathyroid hormone; Jaw and renal imaging

## Sections of this record

The page is a hub with ten sections in reading order; large sections have their own page. The same plan as JSON: https://onco.cc/api/v1/cancers/hyperparathyroidism-jaw-tumour-syndrome/sections.json

- Overview (on the hub): The TL;DR, the family this cancer belongs to, the organ, who gets it and what the state of the art is. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#overview
- What it is (on the hub): Anatomy, the subtypes and how they differ, how it is staged, and where advanced disease spreads. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#what-it-is [3 subtypes]
- Finding it (on the hub): How it shows itself, how it is confirmed, what screening exists, and the biomarkers clinicians test for. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#finding-it [4 biomarkers]
- Treating it (on the hub): The standard of care by setting, the medicines, surgery and radiotherapy named in it, and the regimens behind them. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#treating-it [1 setting, 1 decision with options]
- Evidence (on the hub): Trials recruiting now, the landmark trials, the key papers and what they mean, the latest literature, and the milestones year by year. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#evidence
- The science (on the hub): The molecular landscape: the targets and how often each appears, the pathways, the mechanics stages and the preclinical models. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#science [1 target]
- Where you are (own page): Cases by country, the UK and NHS pathway and other country lenses, and the expert centres with trials on record. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/where-you-are/
- Living with it (on the hub): The decisions you may face, the aids that walk through them, the warnings on record, the first sixty days and the questions to ask. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/#living-with-it [8 questions]
- What is coming (own page): Everything in development, the open problems and what is being done about them, the roadmaps, and what changed on this record. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/coming/ [1 medicine]
- Data (own page): Every connected record, the notes, the JSON, Markdown and RDF twins, and where the record came from and when it was checked. https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/data/ [5 connected records]

## Standard of care

- Hyperparathyroidism and carcinoma: Parathyroid surgery for hyperparathyroidism; carcinoma treated as the parent page describes, with cinacalcet for uncontrolled calcium and CDC73 testing of relatives. ([Parathyroid carcinoma](https://onco.cc/cancers/parathyroid-carcinoma/), [Cinacalcet](https://onco.cc/drugs/cinacalcet/), [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/))

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Hyperparathyroidism-jaw_tumor_syndrome
- NCI PDQ: parathyroid cancer treatment: https://www.cancer.gov/types/parathyroid/patient/parathyroid-treatment-pdq
- Orphanet: hyperparathyroidism-jaw tumour syndrome (ORPHA:99880): https://www.orpha.net/en/disease/detail/99880
- Carpten 2002, Nature Genetics: HRPT2 (CDC73), encoding parafibromin, is mutated in HPT-JT: https://doi.org/10.1038/ng1048
- Torresan 2019, Int J Endocrinol: clinical features, treatment and surveillance of HPT-JT (review): https://doi.org/10.1155/2019/1761030
- Gill 2006, Am J Surg Pathol: loss of parafibromin distinguishes parathyroid carcinoma and HPT-JT adenomas: https://doi.org/10.1097/01.pas.0000209827.39477.4f
- Kelly 2015, J Oral Maxillofac Surg: HPT-JT case report and genetic review: https://doi.org/10.1016/j.joms.2014.09.008

## Connected records

- cancers: [Mediastinal germ cell tumour](https://onco.cc/cancers/mediastinal-germ-cell-tumour/), [Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4)](https://onco.cc/cancers/multiple-endocrine-neoplasia/), [Multiple endocrine neoplasia type 1 (MEN1)](https://onco.cc/cancers/men1-syndrome/), [Parathyroid carcinoma](https://onco.cc/cancers/parathyroid-carcinoma/), [Wilms tumour (nephroblastoma)](https://onco.cc/cancers/wilms-tumor/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [CDC73](https://onco.cc/targets/cdc73/)
- drugs: [Cinacalcet](https://onco.cc/drugs/cinacalcet/)
- terms: [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)

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JSON: https://onco.cc/api/v1/entities/hyperparathyroidism-jaw-tumour-syndrome.json