PRTC
MCID: PRT010
MIFTS: 67

Parathyroid Carcinoma (PRTC)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Parathyroid Carcinoma

MalaCards integrated aliases for Parathyroid Carcinoma:

Name: Parathyroid Carcinoma 56 12 52 25 58 73 36 29 13 54 6 15
Parathyroid Neoplasms 25 54 43 71
Parathyroid Cancer 74 52 25 54
Malignant Tumor of Parathyroid Gland 12 25 71
Malignant Neoplasm of Parathyroid Gland 12 25
Parathyroid Gland Adenocarcinoma 12 71
Carcinoma of Parathyroid Gland 12 25
Parathyroid Gland Carcinoma 25 17
Parathyroid Gland Cancer 12 25
Parathyroid Neoplasm 12 74
Prtc 56 73
Malignant Neoplasm of the Parathyroid 12
Malignant Parathyroid Gland Neoplasm 25
Malignant Neoplasm of Parathyroid 25
Malignant Parathyroid Gland Tumor 25
Neoplasm of the Parathyroid Gland 6
Cancer of the Parathyroid Gland 25
Malignant Parathyroid Neoplasm 25
Malignant Tumor of Parathyroid 25
Neoplasm of Parathyroid Gland 12
Malignant Parathyroid Tumor 25
Parathyroid Gland Neoplasm 12
Parathyroid Adenocarcinoma 25
Cancer of the Parathyroid 25
Carcinoma, Parathyroid 39

Characteristics:

Orphanet epidemiological data:

58
parathyroid carcinoma
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe),<1/1000000 (United States); Age of onset: Adult; Age of death: adult,elderly;

HPO:

31
parathyroid carcinoma:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Parathyroid Carcinoma

Genetics Home Reference : 25 Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood. In about 90 percent of cases, the early signs of parathyroid cancer are high levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because the parathyroid glands are producing excess hormone. Many individuals with hormonally functional parathyroid cancer develop hypercalcemic crisis, in which calcium levels in the blood are very high. Neurological problems can develop, including changes in mood and depression. About 30 percent of individuals with hypercalcemia due to parathyroid cancer develop kidney and skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading to the formation of kidney stones (nephrolithiasis), bone pain, bone loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas (pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, vomiting, weight loss, and fatigue are also common. About 10 percent of cases of parathyroid cancer are described as hormonally nonfunctional. In these cases, levels of parathyroid hormone and calcium are normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer are related to the tumor obstructing nearby structures in the neck. These problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis. Up to 85 percent of individuals with parathyroid survive at least 5 years after they are diagnosed. The disease recurs in approximately half of individuals. If cancer does recur, it will commonly be within 3 years of the original diagnosis and up to 78 percent of people with recurrent cancer survive at least 5 years. Hormonally nonfunctional parathyroid cancer has a lower survival rate because it is often found at a later stage, as it does not have early signs such as increased calcium and parathyroid hormone levels. In hormonally functional parathyroid cancer, death is usually caused by organ failure (usually kidney failure) due to prolonged hypercalcemia and not directly due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of death is typically related to the tumor itself, such as its impact on the function of nearby structures or its spread to other tissues (metastasis).

MalaCards based summary : Parathyroid Carcinoma, also known as parathyroid neoplasms, is related to hyperparathyroidism 1 and osteitis fibrosa. An important gene associated with Parathyroid Carcinoma is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Neuroscience and Pathways in cancer. The drugs Tramadol and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include parathyroid glands located in the neck, bone and thyroid, and related phenotypes are parathyroid carcinoma and primary hyperparathyroidism

Disease Ontology : 12 An endocrine gland cancer located in the parathyroid glands located in the neck.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 143 Definition Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis , bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. Visit the Orphanet disease page for more resources.

KEGG : 36 Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing <1-5% of all patients with primary hyperparathyroidism. PC is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin staining together with a CDC73 gene mutation increases the likelihood of malignancy and also predicts the clinical outcome, namely local invasion and/or metastases and mortality. An increased mortality is predicted by either of these abnormality combined with down regulation of the calcium-sensing receptor (CaSR) expression.

UniProtKB/Swiss-Prot : 73 Parathyroid carcinoma: These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.

Wikipedia : 74 Parathyroid carcinoma is a rare cancer resulting in parathyroid adenoma to carcinoma progression. It... more...

More information from OMIM: 608266

Related Diseases for Parathyroid Carcinoma

Diseases related to Parathyroid Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 32.8 MEN1 CDC73
2 osteitis fibrosa 32.6 PTH CDC73 CASR CALCA
3 hyperparathyroidism 2 with jaw tumors 32.2 RET MEN1 CDC73 CCND1 CASR
4 thyroid carcinoma 30.9 RET LGALS3 CALCA
5 hyperparathyroidism 30.9 RET PTH MEN1 CDC73 CASR CALCA
6 multiple endocrine neoplasia 30.8 RET MEN1 CALCA
7 secondary hyperparathyroidism 30.7 PTH MEN1 CASR CALCA
8 bone resorption disease 30.6 PTH CASR CALCA
9 goiter 30.6 RET LGALS3 CALCA
10 primary hyperparathyroidism 30.5 RET PTH MEN1 CDC73 CCND1 CASR
11 papillary carcinoma 30.3 RET LGALS3 CALCA
12 hypercalcemia, infantile, 1 30.3 PTH CASR CALCA
13 substernal goiter 30.3 PTH CALCA
14 multinodular goiter 30.2 RET PTH CALCA
15 thyroid gland medullary carcinoma 30.2 RET MEN1 CALCA
16 multiple endocrine neoplasia, type i 30.2 RET PTH MEN1 CDC73 CASR
17 thyroid carcinoma, familial medullary 30.2 RET MEN1 CALCA
18 nodular goiter 30.1 RET LGALS3 CALCA
19 rickets 30.1 PTH CASR CALCA
20 thyroid tumor 30.0 TERT RET LGALS3
21 papillary thyroid microcarcinoma 29.9 MKI67 CALCA
22 parathyroid adenoma 29.9 RET PTH MEN1 LGALS3 CDC73 CCND1
23 hypoparathyroidism 29.9 RET PTH CASR CALCA
24 uremia 29.8 PTH MEN1 CASR
25 islet cell tumor 29.7 RET MEN1 CALCA
26 adenoma 29.3 RET PTH MKI67 MEN1 LGALS3 CDC73
27 pheochromocytoma 29.3 TERT RET MEN1 CCND1 CALCA
28 multiple endocrine neoplasia, type iia 29.3 RET PTH MEN1 CDC73 CALCA
29 neuroendocrine tumor 29.2 RET MKI67 MEN1 CALCA
30 meningioma, familial 28.8 TERT RET MKI67 MEN1 CCND1
31 parathyroid gland disease 28.4 RET PTH MIR30B MEN1 CDC73 CASR
32 lung cancer susceptibility 3 28.3 TERT RET RB1 CCND1 APC
33 thyroid gland cancer 28.2 TERT RET PTH MEN1 LGALS3 CCND1
34 periodontitis 10.5
35 clear cell adenoma 10.5 PTH CDC73
36 malignant ovarian brenner tumor 10.5 PTH CALCA
37 isthmus cancer 10.4 LGALS3 CALCA
38 periodontitis, chronic 10.4
39 gorham's disease 10.4 PTH CALCA
40 bone disease 10.4
41 thyroid sarcoma 10.4 TERT CALCA
42 parathyroid transitional clear cell adenoma 10.4 PTH MEN1
43 bowenoid papulosis 10.4 TERT CCND1
44 hypervitaminosis d 10.4 PTH CALCA
45 hypocalciuric hypercalcemia, familial, type i 10.3 PTH CDC73 CASR
46 hypocalciuric hypercalcemia, familial, type ii 10.3 PTH CDC73 CASR
47 hypocalciuric hypercalcemia, familial, type iii 10.3 PTH CDC73 CASR
48 atypical follicular adenoma 10.3 RET CALCA
49 multiple mucosal neuroma 10.3 RET CALCA
50 pancreatic cholera 10.3 MEN1 CALCA

Comorbidity relations with Parathyroid Carcinoma via Phenotypic Disease Network (PDN):


Hyperparathyroidism

Graphical network of the top 20 diseases related to Parathyroid Carcinoma:



Diseases related to Parathyroid Carcinoma

Symptoms & Phenotypes for Parathyroid Carcinoma

Human phenotypes related to Parathyroid Carcinoma:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid carcinoma 58 31 obligate (100%) Obligate (100%) HP:0006780
2 primary hyperparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0008200
3 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
4 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
5 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
6 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
10 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
11 fibroma 58 31 frequent (33%) Frequent (79-30%) HP:0010614
12 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
13 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
14 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
15 uterine leiomyoma 58 31 frequent (33%) Frequent (79-30%) HP:0000131
16 infantile hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0008250
17 shortened qt interval 58 31 frequent (33%) Frequent (79-30%) HP:0012232
18 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
19 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
20 chondrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000934
21 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
22 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
23 peptic ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0004398
24 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
25 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
26 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
27 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
28 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
29 renal hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0008696
30 mandibular pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0200025
31 pancreatic adenocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006725
32 lipoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012032
33 nephroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002667
34 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890
35 testicular neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0010788
36 hypercalcemia 58 31 Obligate (100%) HP:0003072
37 hyperparathyroidism 31 HP:0000843
38 abnormality of the parathyroid morphology 58 Very frequent (99-80%)

Clinical features from OMIM:

608266

MGI Mouse Phenotypes related to Parathyroid Carcinoma:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 APC CASR CCND1 CDC73 LGALS3 MEN1
2 growth/size/body region MP:0005378 10.27 APC CASR CCND1 CDC73 LGALS3 MEN1
3 cardiovascular system MP:0005385 10.25 APC CCND1 CDC73 LGALS3 MEN1 PTH
4 digestive/alimentary MP:0005381 10.22 APC CASR CCND1 CDC73 LGALS3 MEN1
5 hematopoietic system MP:0005397 10.22 APC CASR CCND1 CDC73 LGALS3 PTH
6 endocrine/exocrine gland MP:0005379 10.21 APC CASR CCND1 CDC73 MEN1 PTH
7 immune system MP:0005387 10.2 APC CASR CCND1 CDC73 LGALS3 MEN1
8 mortality/aging MP:0010768 10.18 APC CASR CCND1 CDC73 LGALS3 MEN1
9 liver/biliary system MP:0005370 10.03 APC CDC73 LGALS3 MEN1 RB1 TERT
10 neoplasm MP:0002006 10.02 APC CCND1 CDC73 LGALS3 MEN1 RB1
11 nervous system MP:0003631 10.02 APC CCND1 CDC73 LGALS3 MEN1 PRUNE2
12 renal/urinary system MP:0005367 9.86 APC CASR CDC73 LGALS3 RB1 RET
13 reproductive system MP:0005389 9.81 APC CCND1 CDC73 LGALS3 MEN1 RB1
14 respiratory system MP:0005388 9.5 CCND1 CDC73 LGALS3 RB1 RET TERT
15 skeleton MP:0005390 9.28 APC CASR CCND1 CDC73 LGALS3 PTH

Drugs & Therapeutics for Parathyroid Carcinoma

Drugs for Parathyroid Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Codeine Approved, Illicit Phase 4 76-57-3 5284371
5 Analgesics, Non-Narcotic Phase 4
6 Narcotics Phase 4
7 Antitussive Agents Phase 4
8 Analgesics Phase 4
9 Antipyretics Phase 4
10 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
11
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
12
Cinacalcet Approved Phase 3 226256-56-0 156419
13
Denosumab Approved Phase 3 615258-40-7
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
15
Choline Approved, Nutraceutical Phase 3 62-49-7 305
16 Hormones Phase 3
17 Hormone Antagonists Phase 3
18 Calcium, Dietary Phase 3
19 Vitamins Phase 3
20 Calciferol Phase 3
21 Lipid Regulating Agents Phase 3
22 Hypolipidemic Agents Phase 3
23 Gastrointestinal Agents Phase 3
24 Antimetabolites Phase 3
25 Technetium Tc 99m Sestamibi Phase 3
26
Calcium Nutraceutical Phase 3 7440-70-2 271
27
Indinavir Approved Phase 2 150378-17-9 5362440
28
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
29 Cola Phase 2
30 Liver Extracts Phase 2
31 Cytochrome P-450 Enzyme Inhibitors Phase 2
32
protease inhibitors Phase 2
33 Anti-HIV Agents Phase 2
34 Anti-Infective Agents Phase 2
35 HIV Protease Inhibitors Phase 2
36 Anti-Retroviral Agents Phase 2
37 Antiviral Agents Phase 2
38 Cytochrome P-450 CYP3A Inhibitors Phase 2
39 Diphosphonates Phase 2
40 Radiopharmaceuticals Phase 2
41
Belinostat Approved, Investigational Phase 1 866323-14-0
42
Fluorouracil Approved Phase 1 51-21-8 3385
43
Dacarbazine Approved, Investigational Phase 1 4342-03-4 5351166
44
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
45
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
46
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
47
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
48
tipifarnib Investigational Phase 1 192185-72-1 159324
49 Pancreatic Polypeptide Investigational Phase 1 59763-91-6
50
Entinostat Investigational Phase 1 209783-80-2

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 An Assessment of the Calcimimetic Agent AMG 073 for the Treatment of Subjects With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism. Completed NCT00037518 Phase 4 AMG 073
2 Minimizing Narcotic Analgesics After Thyroid or Parathyroid Surgery Active, not recruiting NCT03469310 Phase 4 Acetaminophen 500Mg Cap;Tylenol #3 Oral Tablet;Tramadol
3 An Intra-individual Titration Study of KRN1493 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism Completed NCT01460030 Phase 3 Cinacalcet HCl
4 An Intra-Subject Dose-Adjustment Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Who Are Unable to Undergo Parathyroidectomy or Relapse After Parathyroidectomy Completed NCT03280264 Phase 3 KHK7580
5 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Completed NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
6 18F-Fluorocholine for the Detection of Parathyroid Adenomas Recruiting NCT03764007 Phase 2, Phase 3 Fluorocholine PET
7 Phase III Trial Comparing 2 Diagnostic Strategies for Preoperative Localization of Parathyroid Adenoma in Primary Hyperparathyroidism:TEMP / CT With Tc99m-sestaMIBI or PET / CT With F18-choline in First Intention Recruiting NCT04040946 Phase 3
8 Radiation Therapy in Combination With Indinavir / Ritonavir (Crixivan / Norvir) for the Treatment of Brain Metastases: a Randomized Phase II Study Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
9 Interest of the F18-choline as a Second Line of the Tracer for Detection of Parathyroid Adenomas Completed NCT02432599 Phase 2
10 A Single-arm, Multicenter, Proof-of-concept Study of Denosumab in the Treatment of Hypercalcemia of Malignancy in Subjects With Elevated Serum Calcium Despite Recent Treatment With IV Bisphosphonates Completed NCT00896454 Phase 2 denosumab
11 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Not yet recruiting NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
12 Phase 1 Study to Evaluate the Efficacy of Using Energy Specific Far Infrared Radiation Treatment for Hyperparathyroidism. Unknown status NCT00573573 Phase 1
13 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
14 Open Label, Dose Escalation Trial of Oral PXD101 in Patients With Advanced Solid Tumors Completed NCT00413075 Phase 1 oral belinostat
15 A Phase I Safety, Pharmacodynamic, Anti-Tumor Activity, and Pharmacokinetic Study of PXD101 Alone and in Combination With 5-Fluorouracil in Patients With Advanced Solid Tumors Completed NCT00413322 Phase 1 belinostat;5-Fluorouracil (5-FU)
16 Phase I Trial of Dacarbazine and Bortezomib in Melanoma and Soft Tissue Sarcoma Completed NCT00580320 Phase 1 Dacarbazine and bortezomib
17 Phase I Trial of NGR-TNF Administered Every 3 Weeks as a 1 Hour Intravenous Infusion in Patients With Solid Tumor Completed NCT00098943 Phase 1
18 A Phase I, Pharmacokinetic, and Biologic Correlative Study of R115777 (NSC 702818) and Herceptin in Patients With Advanced Cancer Completed NCT00005842 Phase 1 tipifarnib
19 A Phase I Trial of Herceptin and Interleukin-12 Completed NCT00004074 Phase 1
20 A Phase I Study of an Oral Histone Deacetylase Inhibitor, MS-275, in Refractory Solid Tumors and Lymphomas Completed NCT00020579 Phase 1 entinostat
21 Evaluation of a New CZT System for Imaging in Routine Nuclear Medicine Examination Unknown status NCT01084356
22 Localization of Parathyroid Adenoma by Fluorocholine Positron Emission Tomography/MRI (PET/MRI): A Prospective Pilot Study Unknown status NCT02843542
23 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
24 Parathyroid Cancer Versus Atypical Parathyroid Neoplasm; Investigating Their Clinical Characteristics and Biological Behavior Completed NCT03046524
25 Observation of Histological Changes in Parathyroid Adenomas Following High Intensity Focused Ultrasound (HIFU)Treatment Procedure: A Monocentre, Open, Uncontrolled Study Completed NCT01060982
26 Single Agent ZD-1839 (NSC-715055, IND-61187) in Patients With Advanced Head and Neck Carcinoma or Non-Small Cell Lung Cancer Aged 75 Years and Older (and in a Cohort of Patients 50 Years Old and Younger) Completed NCT00068497 gefitinib
27 Detection and Characterization of Circulating Tumor Cells in Patients With Malignant Pleural Mesothelioma: Towards a New Phase in the Understanding of the Natural History of This Cancer? Completed NCT01776385
28 Amino Acid Transport Imaging of Parathyroid Adenomas With Anti-3-[18F]FACBC Completed NCT01574287 FACBC
29 Use of Hypocalcemic Intraarterial Infusion Into the Thyroid/Parathyroid Bed to Localize Occult Parathyroid Adenomas Completed NCT00001394
30 Molecular and Immunohistochemical Profiling of Tumor From Patients With Parathyroid Tumors for Evaluation of Targeted Agents Recruiting NCT03039439
31 Studies of Hyperparathyroidism and Related Disorders Recruiting NCT00001277 68Ga-Dotatate;18F-DOPA
32 Optimization and Individualization of Diagnostic Scintigraphy Protocol and Minimally Invasive Radio-guided Parathyroid Surgery Using Quantitative Analysis of Scintigraphy Results on Hybrid SPECT-CT Imaging Recruiting NCT04344886
33 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
34 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Recruiting NCT04299425
35 Prospective Comprehensive Molecular Analysis of Endocrine Neoplasms Recruiting NCT01005654
36 Cohort Trial on Perioperative Localization Techniques of Parathyroid Adenomas Not yet recruiting NCT04013100
37 Intraoperative Injection of Exparel Effect on Postoperative Opioid Use in Thyroid and Parathyroid Surgery Not yet recruiting NCT04085913 Early Phase 1 Lidocaine Epinephrine;Bupivacaine Hydrochloride-EPINEPHrine;Lidocaine Epinephrine, Bupivacaine Hydrochloride-EPINEPHrine
38 Ultrasound Guided Fine Needle Aspiration of Parathyroid Gland as a Pre Operative Localization Tool to Identify Pathological Parathyroid Not yet recruiting NCT03516747
39 The Master Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Systemic Treatment (T)
40 Localization of Parathyroid Adenomas Using MRI and SPECT Fusion Software in Patients With Persistent or Recurrent Hyperparathyroidism Terminated NCT00639405
41 High Intensity Focused Ultrasound (HIFU) for Parathyroid Adenoma Terminated NCT01291498
42 Multicenter Registry Comparing Preoperative Imaging for Primary Hyperparathyroidism Withdrawn NCT02381925
43 Cinacalcet for Treatment of Persistent Secondary Hyperparathyroidism in Renal Transplant Recipients: Effect on Renal Function, Serum Calcium and Bone Histomorphometry Withdrawn NCT00415584 Cinacalcet HCl

Search NIH Clinical Center for Parathyroid Carcinoma

Cochrane evidence based reviews: parathyroid neoplasms

Genetic Tests for Parathyroid Carcinoma

Genetic tests related to Parathyroid Carcinoma:

# Genetic test Affiliating Genes
1 Parathyroid Carcinoma 29 CDC73

Anatomical Context for Parathyroid Carcinoma

The Foundational Model of Anatomy Ontology organs/tissues related to Parathyroid Carcinoma:

19
Parathyroid Glands Located In The Neck

MalaCards organs/tissues related to Parathyroid Carcinoma:

40
Bone, Thyroid, Kidney, Pancreas, Lung, Pituitary, Brain

Publications for Parathyroid Carcinoma

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 1233)
# Title Authors PMID Year
1
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 54 61 6 56
14585940 2003
2
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 54 61 6
16720667 2006
3
CDC73-Related Disorders 61 6
20301744 2008
4
Clinical review 122: Parathyroid carcinoma. 61 56
11157996 2001
5
Natural history of parathyroid carcinoma. Diagnosis, treatment, and results. 61 56
3985291 1985
6
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. 6
15613436 2005
7
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 6
14715834 2004
8
HRPT2, a marker of parathyroid cancer. 56
14585935 2003
9
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 6
12434154 2002
10
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. 54 61
19926710 2010
11
The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. 61 54
19906718 2010
12
Molecular genetics of parathyroid disease. 54 61
19373510 2009
13
Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation. 54 61
19491073 2009
14
Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma. 54 61
19017757 2009
15
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 61 54
19148484 2009
16
Defining a molecular phenotype for benign and malignant parathyroid tumors. 54 61
19107770 2009
17
Primary hyperparathyroidism: a current perspective. 54 61
18684024 2008
18
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. 61 54
18338208 2008
19
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 61 54
18436011 2008
20
Aberrant methylation of the HRPT2 gene in parathyroid carcinoma. 54 61
18217513 2007
21
Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. 54 61
17555500 2007
22
Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? 61 54
17468190 2007
23
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 54 61
16931959 2006
24
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. 61 54
16817812 2006
25
Parathyroid carcinoma. 54 61
16357559 2006
26
Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. 54 61
16116486 2005
27
Galectin-3 expression in parathyroid carcinoma: immunohistochemical study of 26 cases. 61 54
16112008 2005
28
Parathyroid carcinoma. 61 54
15719375 2005
29
Parathyroid carcinoma: an overview. 61 54
15731573 2005
30
Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. 54 61
15475453 2004
31
Analysis of parathyroid neoplasms by interphase fluorescence in situ hybridization. 61 54
15105644 2004
32
Differential expression of the calcium sensing receptor and combined loss of chromosomes 1q and 11q in parathyroid carcinoma. 61 54
14694525 2004
33
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. 61 54
12960210 2003
34
Mutational analyses of RB and BRCA2 as candidate tumour suppressor genes in parathyroid carcinoma. 54 61
12864795 2003
35
Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent. 61 54
9543122 1998
36
Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study. 61 54
8626826 1996
37
Absence of cyclin D1/PRAD1 point mutations in human breast cancers and parathyroid adenomas and identification of a new cyclin D1 gene polymorphism. 54 61
7621424 1995
38
Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. 61 54
7906387 1994
39
Immunohistological study of nonfunctional parathyroid carcinoma. Report of a case. 61 54
1609615 1992
40
The genomic profile of parathyroid carcinoma based on whole-genome sequencing. 61
32574388 2020
41
[Intraoperative measurement of parathyroid hormone in hyperparathyroidism]. 61
32052111 2020
42
History of the multiple endocrine neoplasia workshops and overview of MEN2019. 61
32508314 2020
43
Seven cases of parathyroid carcinoma and review of the literature. 61
32578053 2020
44
Does Mixed Neuroendocrine-Nonneuroendocrine Neoplasm (MiNEN) of the Parathyroid Gland Exist? First Description of a Possible Case. 61
32506375 2020
45
PIK3CA Mutational Analysis of Parathyroid Adenomas. 61
32537547 2020
46
Parathyroid carcinoma in a 13-year-old girl with a long-term survival. 61
32572650 2020
47
Parathyroid Carcinoma Shown on 99mTc-Sestamibi Parathyroid SPECT/CT Scan in a Pediatric Patient. 61
32209876 2020
48
Images in Endocrine Pathology: High-Grade Intrathyroidal Parathyroid Carcinoma with Crooke's Hyalinization. 61
32146582 2020
49
ATYPICAL RECURRENCE OF PARATHYROID CARCINOMA FOLLOWING INFLIXIMAB THERAPY IN A PATIENT WITH ULCERATIVE COLITIS. 61
32524023 2020
50
Cancer-derived immunoglobulin G: A novel marker for differential diagnosis and relapse prediction in parathyroid carcinoma. 61
31943291 2020

Variations for Parathyroid Carcinoma

ClinVar genetic disease variations for Parathyroid Carcinoma:

6 (show top 50) (show all 384) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDC73 NM_024529.4(CDC73):c.245del (p.Asn82fs)deletion Pathogenic 403878 rs1060500009 1:193099308-193099308 1:193130178-193130178
2 CDC73 NC_000001.11:g.(?_193130174)_(193130243_?)deldeletion Pathogenic 417319 1:193099304-193099373 1:193130174-193130243
3 CDC73 NM_024529.4(CDC73):c.4del (p.Ala2fs)deletion Pathogenic 403893 rs1060500020 1:193091333-193091333 1:193122203-193122203
4 CDC73 NM_024529.4(CDC73):c.451_452GA[2] (p.Arg152fs)short repeat Pathogenic 403892 rs1060500019 1:193107241-193107242 1:193138111-193138112
5 CDC73 NM_024529.4(CDC73):c.237+1G>CSNV Pathogenic 403882 rs794727303 1:193094348-193094348 1:193125218-193125218
6 CDC73 NM_024529.4(CDC73):c.85G>T (p.Glu29Ter)SNV Pathogenic 429954 rs1131691698 1:193091415-193091415 1:193122285-193122285
7 CDC73 NM_024529.4(CDC73):c.505C>T (p.Gln169Ter)SNV Pathogenic 462764 rs1553279088 1:193107296-193107296 1:193138166-193138166
8 CDC73 NM_024529.4(CDC73):c.1052del (p.Pro351fs)deletion Pathogenic 462737 rs1553288362 1:193181212-193181212 1:193212082-193212082
9 CDC73 NM_024529.4(CDC73):c.376C>T (p.Arg126Ter)SNV Pathogenic 462760 rs1553278844 1:193104672-193104672 1:193135542-193135542
10 CDC73 NM_024529.4(CDC73):c.483dup (p.Glu162fs)duplication Pathogenic 531648 rs1553279085 1:193107271-193107272 1:193138141-193138142
11 covers 16 genes, none of which curated to show dosage sensitivity deletion Pathogenic 560081 1:191888324-194584888 1:191919194-194615758
12 CDC73 NC_000001.11:g.(?_193122191)_(193122341_?)deldeletion Pathogenic 583491 1:193091321-193091471 1:193122191-193122341
13 CDC73 NC_000001.11:g.(?_193236246)_(193236366_?)deldeletion Pathogenic 583777 1:193205376-193205496 1:193236246-193236366
14 CDC73 NM_024529.4(CDC73):c.12_31dup (p.Tyr11fs)duplication Pathogenic 579524 rs1558276082 1:193091339-193091340 1:193122209-193122210
15 CDC73 NM_024529.4(CDC73):c.53_54del (p.Ile18fs)deletion Pathogenic 567635 rs1558276157 1:193091383-193091384 1:193122253-193122254
16 CDC73 NM_024529.4(CDC73):c.664C>T (p.Arg222Ter)SNV Pathogenic 658835 1:193111131-193111131 1:193142001-193142001
17 CDC73 NM_024529.5(CDC73):c.718del (p.Ser240fs)deletion Pathogenic 660497 1:193111183-193111183 1:193142053-193142053
18 CDC73 NM_024529.5(CDC73):c.1247del (p.Gly416fs)deletion Pathogenic 658249 1:193202211-193202211 1:193233081-193233081
19 CDC73 NC_000001.11:g.(?_193122191)_(193250722_?)deldeletion Pathogenic 647462 1:193091321-193219852 1:193122191-193250722
20 CDC73 NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)deletion Pathogenic 844763 1:193172953-193172956 1:193203823-193203826
21 CDC73 NM_024529.4(CDC73):c.358C>T (p.Arg120Ter)SNV Pathogenic 642112 1:193104571-193104571 1:193135441-193135441
22 CDC73 NM_024529.5(CDC73):c.220dup (p.Tyr74fs)duplication Pathogenic 801586 1:193094327-193094328 1:193125197-193125198
23 CDC73 NC_000001.11:g.(?_193122191)_(193125227_?)deldeletion Pathogenic 831275 1:193091321-193094357
24 CDC73 NC_000001.11:g.(?_193122191)_(193150392_?)deldeletion Pathogenic 830553 1:193091321-193119522
25 CDC73 NC_000001.11:g.(?_193122191)_(193152454_?)deldeletion Pathogenic 832317 1:193091321-193121584
26 CDC73 NC_000001.11:g.(?_193125102)_(193130253_?)deldeletion Pathogenic 831107 1:193094232-193099383
27 CDC73 NC_000001.11:g.(?_193135381)_(193138183_?)deldeletion Pathogenic 833443 1:193104511-193107313
28 CDC73 NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)SNV Pathogenic 846304 1:193099337-193099337 1:193130207-193130207
29 CDC73 NC_000001.11:g.(?_193122201)_(193125227_?)deldeletion Pathogenic 830741 1:193091331-193094357
30 CDC73 NC_000001.11:g.(?_193122201)_(193250712_?)deldeletion Pathogenic 830490 1:193091331-193219842
31 CDC73 NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs)insertion Pathogenic 3270 rs80356649 1:193111146-193111147 1:193142016-193142017
32 CDC73 NM_024529.4(CDC73):c.128G>A (p.Trp43Ter)SNV Pathogenic 3271 rs121434263 1:193091458-193091458 1:193122328-193122328
33 CDC73 NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter)SNV Pathogenic 3274 rs121434265 1:193094272-193094272 1:193125142-193125142
34 CDC73 NM_024529.4(CDC73):c.375dup (p.Arg126fs)duplication Pathogenic 3275 1:193104668-193104669 1:193135538-193135539
35 CDC73 NM_024529.4(CDC73):c.131+1G>ASNV Pathogenic 3276 rs587776558 1:193091462-193091462 1:193122332-193122332
36 CDC73 NM_024529.4(CDC73):c.679_680AG[3] (p.Arg229fs)short repeat Pathogenic 3278 1:193111146-193111149 1:193142016-193142019
37 CDC73 NM_024529.4(CDC73):c.85del (p.Glu29fs)deletion Pathogenic 3280 rs587776560 1:193091412-193091412 1:193122282-193122282
38 CDC73 NM_024529.4(CDC73):c.13_30del (p.Leu5_Gln10del)deletion Pathogenic 3281 rs587776561 1:193091342-193091359 1:193122212-193122229
39 CDC73 NM_024529.4(CDC73):c.766_767del (p.Val256fs)deletion Pathogenic 21687 rs80356650 1:193117032-193117033 1:193147902-193147903
40 CDC73 NM_024529.5(CDC73):c.679_680AG[6] (p.Val230fs)short repeat Pathogenic 241496 rs760591174 1:193111145-193111146 1:193142015-193142016
41 CDC73 NM_024529.4(CDC73):c.478_479CA[1] (p.His160fs)short repeat Likely pathogenic 633148 1:193107269-193107270 1:193138139-193138140
42 CDC73 NM_024529.4(CDC73):c.1A>G (p.Met1Val)SNV Likely pathogenic 582687 rs1558276054 1:193091331-193091331 1:193122201-193122201
43 CDC73 NC_000001.11:g.(?_193130168)_(193135595_?)deldeletion Likely pathogenic 462735 1:193099298-193104725 1:193130168-193135595
44 CDC73 NM_024529.4(CDC73):c.729+1G>TSNV Likely pathogenic 403883 rs1060500012 1:193111197-193111197 1:193142067-193142067
45 CDC73 NC_000001.10:g.(?_193172925)_(193205486_?)dupduplication Likely pathogenic 417320 1:193172925-193205486 1:193203795-193236356
46 CTNNB1 NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)SNV Likely pathogenic 376231 rs121913400 3:41266101-41266101 3:41224610-41224610
47 CTNNB1 NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)SNV Likely pathogenic 376235 rs121913228 3:41266112-41266112 3:41224621-41224621
48 CDC73 NM_024529.4(CDC73):c.*1833A>GSNV Conflicting interpretations of pathogenicity 294440 rs150894778 1:193221675-193221675 1:193252545-193252545
49 CDC73 NM_024529.4(CDC73):c.1418-10C>GSNV Conflicting interpretations of pathogenicity 294415 rs768713729 1:193218850-193218850 1:193249720-193249720
50 CDC73 NM_024529.4(CDC73):c.*1499T>ASNV Conflicting interpretations of pathogenicity 294436 rs138503809 1:193221341-193221341 1:193252211-193252211

Expression for Parathyroid Carcinoma

Search GEO for disease gene expression data for Parathyroid Carcinoma.

Pathways for Parathyroid Carcinoma

Pathways related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.2 UCHL1 RET MKI67 CALCA
2 12.08 TERT RET RB1 CCND1 APC
3 12.03 RB1 MKI67 CDC73 CCND1
4 11.66 RB1 LGALS3 CCND1
5 11.54 RB1 CCND1 APC
6 11.28 RB1 MEN1 CCND1 APC
7 11.23 TERT CCND1 APC

GO Terms for Parathyroid Carcinoma

Cellular components related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.8 TERT MEN1 CDC73

Biological processes related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.8 TET2 RB1 MKI67 CDC73 CCND1
2 response to organic cyclic compound GO:0014070 9.63 TET2 CCND1 CASR
3 cellular calcium ion homeostasis GO:0006874 9.54 PTH CASR CALCA
4 vasodilation GO:0042311 9.49 CASR CALCA
5 response to pain GO:0048265 9.48 RET CALCA
6 positive regulation of calcium ion import GO:0090280 9.43 LGALS3 CASR
7 positive regulation of macrophage differentiation GO:0045651 9.32 RB1 CALCA
8 neuron maturation GO:0042551 9.26 RET RB1
9 response to fibroblast growth factor GO:0071774 9.16 PTH CASR
10 negative regulation of epithelial cell proliferation GO:0050680 9.13 RB1 MEN1 CDC73
11 beta-catenin-TCF complex assembly GO:1904837 8.8 TERT MEN1 CDC73

Molecular functions related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.8 TERT PTH MEN1

Sources for Parathyroid Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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