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Hyperparathyroidism 2 with jaw tumors(HPT-JT; HRPT2)

MedGen UID:
310065
Concept ID:
C1704981
Neoplastic Process
Synonyms: Hyperparathyroidism 2; HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS; Hyperparathyroidism-Jaw Tumor Syndrome; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
SNOMED CT: Hyperparathyroidism 2 (702378002); Hyperparathyroidism-jaw tumor syndrome (702378002); Familial primary hyperparathyroidism with multiple ossifying jaw fibromas (702378002); Familial cystic parathyroid adenomatosis (702378002)
 
Gene (location): CDC73 (1q31.2)
 
Monarch Initiative: MONDO:0007768
OMIM®: 145001
Orphanet: ORPHA99880

Definition

The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified. [from GeneReviews]

Additional descriptions

From OMIM
Hyperparathyroidism-2 with jaw tumors (HRPT2) is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015). For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (145000).  http://www.omim.org/entry/145001
From MedlinePlus Genetics
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually noncancerous (benign), in which case they are called adenomas. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 25 to 50 percent of affected individuals have this symptom.

Other tumors, both benign and cancerous, are often seen in hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in about 75 percent of women with this condition. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found.  https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome

Clinical features

From HPO
Hamartoma
MedGen UID:
6713
Concept ID:
C0018552
Neoplastic Process
A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Parathyroid gland adenoma
MedGen UID:
75502
Concept ID:
C0262587
Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Renal cortical adenoma
MedGen UID:
577332
Concept ID:
C0346253
Neoplastic Process
The presence of an adenoma in the cortex of the kidney.
Parathyroid carcinoma
MedGen UID:
146361
Concept ID:
C0687150
Neoplastic Process
The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.
Papillary renal cell carcinoma
MedGen UID:
266300
Concept ID:
C1306837
Neoplastic Process
The presence of renal cell carcinoma in the renal papilla.
Hurthle cell thyroid adenoma
MedGen UID:
237009
Concept ID:
C1336750
Neoplastic Process
A kind of thyroid adenoma characterized by the presence of oxyphil cells.
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Pancreatic adenocarcinoma
MedGen UID:
83800
Concept ID:
C0281361
Neoplastic Process
The presence of an adenocarcinoma of the pancreas.
Recurrent pancreatitis
MedGen UID:
1639431
Concept ID:
C4551632
Disease or Syndrome
A recurrent form of pancreatitis.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Abnormality of the head
MedGen UID:
867438
Concept ID:
C4021812
Anatomical Abnormality
An abnormality of the head.
Hyperparathyroidism
MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperparathyroidism 2 with jaw tumors
Follow this link to review classifications for Hyperparathyroidism 2 with jaw tumors in Orphanet.

Professional guidelines

PubMed

Cetani F, Marcocci C, Torregrossa L, Pardi E
Endocr Relat Cancer 2019 Jul;26(7):R441-R464. doi: 10.1530/ERC-19-0135. PMID: 31085770

Recent clinical studies

Etiology

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Diagnosis

Ababneh E, Nosé V
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Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
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Wang TT, Zhang R, Wang L, Chen Y, Dong Q, Li TJ
Diagn Pathol 2014 Mar 28;9:75. doi: 10.1186/1746-1596-9-75. PMID: 24678936Free PMC Article

Therapy

Tora R, Welch J, Sun J, Agarwal SK, Bell DA, Merino M, Weinstein LS, Simonds WF, Jha S
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Mathews JW, Winchester R, Alsaygh N, Bartlett AM, Luttrell L
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Prognosis

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Clinical prediction guides

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Int J Mol Sci 2024 Feb 15;25(4) doi: 10.3390/ijms25042301. PMID: 38396977Free PMC Article
Kim SY, Lee JY, Cho YJ, Jo KH, Kim ES, Han JH, Baek KH, Moon SD
Int J Mol Sci 2022 Jun 7;23(12) doi: 10.3390/ijms23126364. PMID: 35742816Free PMC Article
Cetani F, Marcocci C, Torregrossa L, Pardi E
Endocr Relat Cancer 2019 Jul;26(7):R441-R464. doi: 10.1530/ERC-19-0135. PMID: 31085770
Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC
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Redwin Dhas MP, Karthiga KS, Tatu JE, Eugenia SJ
Ethiop J Health Sci 2017 May;27(3):309-313. doi: 10.4314/ejhs.v27i3.14. PMID: 29217931Free PMC Article

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