Parathyroid cancer

Parathyroid cancer is a rare type of cancer that develops in the parathyroid glands, which are small glands located in the neck. These glands produce a hormone called parathyroid hormone (PTH), which helps regulate the levels of calcium and phosphorus in the blood. When parathyroid cancer develops, it can cause the glands to produce too much PTH, leading to high levels of calcium in the blood, a condition known as hypercalcemia.

Parathyroid cancer is a genetic condition, meaning it is caused by alterations (mutations) in certain genes. The most common gene associated with parathyroid cancer is the CDC73 gene. Mutations in this gene can be inherited from a parent (germline mutations) or acquired during a person’s lifetime (somatic mutations). It is estimated that about 10-15 percent of parathyroid cancers are caused by CDC73 mutations.

Parathyroid cancer is a rare condition, and there is limited information available on its causes and risk factors. However, studies have suggested that certain factors, such as exposure to radiation and certain genetic conditions, may increase the risk of developing parathyroid cancer. More research is needed to fully understand the causes and risk factors of this rare cancer.

Diagnosing parathyroid cancer can be challenging, as the symptoms and signs of the condition are often nonspecific. Common symptoms include pain in the neck, difficulty swallowing, and hoarseness. It is important for individuals experiencing these symptoms to seek medical attention and undergo further testing, such as blood tests and imaging studies, to determine the cause of their symptoms.

Treatment for parathyroid cancer usually involves surgical removal of the affected parathyroid glands. In some cases, additional treatments, such as radiation therapy or chemotherapy, may be recommended. As parathyroid cancer is a rare condition, it is important for individuals diagnosed with this cancer to seek support and information from advocacy groups and patient support organizations.

For more information on parathyroid cancer, clinical trials, and genetic testing options, individuals can refer to reputable scientific articles, references on OMIM, or search for relevant studies and publications on PubMed. The CDC website and ClinicalTrials.gov are also valuable resources for learning more about this rare condition and available research.

Frequency

Parathyroid cancer is an extremely rare condition, accounting for less than 1 percent of all parathyroid tumors.

According to advocacy and research groups, such as the Parathyroid Cancer Foundation, there is limited information available about the exact frequency of parathyroid cancer. However, based on the available data, it is estimated that the rate of parathyroid cancer is approximately 1 case per 1 million persons per year.

Genetic mutations and alterations in certain genes have been associated with an increased risk of developing parathyroid cancer. These genes include the CDC73 gene and the MEN1 gene. Germline testing for these genetic mutations is recommended for individuals with a family history of parathyroid cancer or other related conditions, such as hyperparathyroidism-jaw tumor syndrome.

Parathyroid cancer can cause symptoms such as high blood calcium levels (hypercalcemia), bone pain, and kidney stones. As parathyroid cancer is a rare and often difficult-to-diagnose condition, it is important for individuals experiencing these symptoms to seek medical attention and receive appropriate testing.

ClinicalTrials.gov provides additional information about ongoing research studies and clinical trials related to parathyroid cancer. A search using the terms “parathyroid cancer” will yield a catalog of relevant studies.

References:
Names Citation
Wang P OMIM #616072
ClinicalTrials.gov Parathyroid Cancer
PubMed Parathyroid Cancer

For more information and resources on parathyroid cancer, individuals can visit the Parathyroid Cancer Foundation website, which provides free information and support for patients and their families.

Causes

Parathyroid cancer is a rare condition that usually develops as a result of genetic mutations in the parathyroid glands. The parathyroid glands are small glands located near the thyroid gland in the neck. They produce a hormone called parathyroid hormone (PTH), which helps regulate calcium and phosphorus levels in the blood.

Most cases of parathyroid cancer are sporadic, meaning they occur randomly and are not inherited from a parent. However, in some cases, parathyroid cancer can be caused by inherited genetic mutations. Mutations in genes such as CDC73 have been associated with an increased risk of developing parathyroid cancer.

Parathyroid cancer is also associated with a condition called hypercalcemia, which is characterized by elevated levels of calcium in the blood. Hypercalcemia can be caused by various factors, including certain inherited genetic mutations, acquired genetic mutations, or other medical conditions. In some cases, parathyroid cancer can also be caused by alterations in the PTH hormone itself.

The exact causes of parathyroid cancer are still not fully understood, and more research is needed to determine the underlying factors that contribute to its development. However, studies have shown that certain genetic mutations, such as those in the CDC73 gene, are associated with an increased risk of developing parathyroid cancer.

For more information on the causes of parathyroid cancer, you can refer to the following resources:

  • The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides information on the genetic causes of parathyroid cancer. You can find additional information on their website: GARD – Parathyroid cancer

  • The OMIM database, which is a catalog of human genes and genetic disorders, provides information on the genetic causes of parathyroid cancer. You can find more information on the OMIM website: OMIM – Parathyroid cancer

  • The PubMed database, which provides access to a vast collection of medical research articles, contains numerous studies and articles on the genetic causes of parathyroid cancer. You can search for specific articles on the PubMed website: PubMed

  • The ClinicalTrials.gov website, which is a resource for finding clinical trials, can provide information on ongoing research and studies related to the causes of parathyroid cancer. You can search for clinical trials on the ClinicalTrials.gov website: ClinicalTrials.gov

  • The American Cancer Society (ACS) and other cancer advocacy organizations may also provide information and support for individuals with parathyroid cancer. You can find additional resources on their websites:

It is important to note that while rare, parathyroid cancer can cause significant health issues and complications. If you or someone you know has concerns about parathyroid cancer or its causes, it is recommended to consult with a healthcare professional for further evaluation and testing.

Learn more about the gene associated with Parathyroid cancer

Parathyroid cancer is a rare condition with a low rate of occurrence. It is usually associated with alterations in a gene called CDC73, also known as the HRPT2 gene. This gene is responsible for encoding a protein called parafibromin, which plays a critical role in the regulation of parathyroid hormone.

Parathyroid cancer is often characterized by hypercalcemia, a condition in which there are high levels of calcium in the blood. This can cause a variety of symptoms, including bone pain, kidney stones, and weakened muscles. Parathyroid cancer can also lead to the development of other diseases.

Individuals with parathyroid cancer often have alterations in the CDC73 gene, either in the germline or acquired during the course of the disease. The altered gene may lead to the development of tumors in the parathyroid glands.

If you would like to learn more about the CDC73 gene and parathyroid cancer, there are several resources available. The OMIM database provides detailed information about the gene, including its function and the associated diseases. Scientific articles and studies can also provide additional information on this topic.

ClinicalTrials.gov is a central resource for information on clinical trials related to parathyroid cancer and the CDC73 gene. By searching for relevant clinical trials, you can find out more about ongoing research in this field.

Support and advocacy organizations can also be valuable sources of information. These organizations often provide resources and support for individuals and families affected by parathyroid cancer. They may have additional information about the CDC73 gene and can help connect you with healthcare professionals specializing in this condition.

In conclusion, the CDC73 gene is associated with parathyroid cancer, a rare and often rare condition. To learn more about this gene and its role in the development of parathyroid cancer, you can explore scientific articles, clinical trial databases, support organizations, and other genetic resources.

See Also:  Mabry syndrome

Inheritance

Parathyroid cancer is a rare condition that is not usually inherited. It is primarily caused by acquired mutations in the CDC73 gene, which is also called the HRPT2 gene. The CDC73 gene provides instructions for making a protein that helps regulate the normal growth and division of cells in the parathyroid glands.

Most cases of parathyroid cancer develop in individuals with no family history of the condition. However, in rare cases, parathyroid cancer can be associated with inherited genetic mutations. These inherited mutations are often found in the CDC73 gene.

The CDC73 gene mutations that can lead to parathyroid cancer are germline mutations. This means that the altered gene is present in all of the person’s cells from the time of conception. Germline mutations in the CDC73 gene are associated with a condition called hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by the development of parathyroid tumors and noncancerous growths called tumors of the jaw.

Individuals with HPT-JT have a higher risk of developing parathyroid cancer compared to the general population. The frequency of parathyroid cancer in individuals with HPT-JT is not well defined, but it is estimated to be less than 15 percent.

If a person with a germline CDC73 gene mutation is diagnosed with parathyroid cancer, their close family members may be at increased risk of developing the condition as well. Genetic testing and counseling can provide more information about the inheritance of CDC73 gene mutations and the risks associated with them.

It is important to note that the information provided here is a general overview and may not apply to all individuals. The best source of information about inheritance and genetic risks for parathyroid cancer is a genetic counselor or healthcare provider with expertise in cancer genetics.

For more detailed and scientific information about the inheritance of parathyroid cancer, we encourage you to refer to the resources and articles available on PubMed, ClinicalTrials.gov, and the CDC’s Cancer Genetics and Genomics website.

Other Names for This Condition

  • Acquired parathyroid cancer
  • Cancer of the parathyroid glands
  • CDC73 mutation
  • Central parathyroid gland cancer
  • ClinicalTrials.gov: Parathyroid Carcinoma
  • Familial isolated hyperparathyroidism due to a CDC73 mutation
  • FCH1
  • FHC
  • FHOP1
  • Genetic hyperparathyroidism
  • Hypercalcemia-jaw tumor syndrome
  • Hyperparathyroidism-2
  • Hyperparathyroidism-jaw tumor syndrome
  • Hyperparathyroidism-jaw tumor syndrome 1
  • Hypophosphatemic rickets with hyperparathyroidism
  • Isolated familial hyperparathyroidism due to a CDC73 mutation
  • Isolated hyperparathyroidism due to CDC73 mutation
  • Parathyroid carcinoma (disorder)
  • Parathyroid carcinoma, childhood-onset
  • PRTC (Parathyroid carcinoma)
  • PTCE1 (Parathyroid carcinoma, childhood-onset)
  • Purathroat 2 (Parathyroid carcinoma, familial isolated)

Additional Information Resources

  • Parathyroid Cancer: This section provides more information about parathyroid cancer itself, including its causes, symptoms, and treatment options. It also includes resources for patients and caregivers.
  • Cancer Testing: Learn more about the various testing methods used to diagnose parathyroid cancer, such as blood tests, imaging studies, and genetic testing.
  • ClinicalTrials.gov: Explore ongoing clinical trials for parathyroid cancer, which may offer new treatment options or provide opportunities for patients to participate in research studies.
  • Acquired Gene Mutations: Find out about the genetic mutations associated with parathyroid cancer, such as CDC73 and other rare genes. Understanding these mutations can help with diagnosis and treatment decisions.
  • References: Access a comprehensive list of scientific articles and research papers related to parathyroid cancer. These references can provide more in-depth information for those interested in learning about the latest advancements in the field.
  • Patient Advocacy Groups: Connect with organizations that specialize in supporting individuals with parathyroid cancer. These groups can offer resources, support networks, and educational materials to help patients and their families navigate the challenges of living with this rare condition.
  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic diseases, including parathyroid cancer and related conditions. It can be a valuable resource for individuals looking to learn more about the genetic and hereditary aspects of parathyroid cancer.

Genetic Testing Information

Parathyroid cancer can be caused by genetic mutations. Genetic testing is available to identify these mutations. This testing can provide important information about the causes, associated conditions, and resources available for individuals with parathyroid cancer.

Genetic mutations involved in parathyroid cancer can be present either in the germline (inherited from parent) or acquired (developing within the individual). One example of a gene associated with parathyroid cancer is the CDC73 gene.

Genetic testing can help identify the specific gene mutations that have caused parathyroid cancer in an individual. It can also provide information about the frequency of these mutations and their rate of occurrence in the general population.

There are several resources available for obtaining genetic testing for parathyroid cancer. ClinicalTrials.gov is a widely-used database that provides information about ongoing clinical trials related to parathyroid cancer. The National Cancer Institute (NCI) is a center for research and developing genetic testing for parathyroid cancer.

In addition to genetic testing, there are advocacy and support organizations that offer assistance and information for individuals with parathyroid cancer. These organizations can provide resources and support for individuals and their families.

Further information about genetic testing for parathyroid cancer can be found in scientific articles and studies. PubMed is a free online resource that provides access to a wide range of medical literature, including articles about genetic testing in parathyroid cancer. OMIM (Online Mendelian Inheritance in Man) is another database that provides comprehensive information about genetic conditions, including parathyroid cancer.

In summary, genetic testing can provide valuable information about the causes and associated conditions of parathyroid cancer. It can help identify specific gene mutations and provide resources for individuals with this rare condition. It is important for individuals with parathyroid cancer to learn more about genetic testing and its potential benefits.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource that provides up-to-date information on various genetic and rare diseases, including parathyroid cancer. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

Parathyroid cancer is a rare condition that is usually caused by genetic mutations in certain genes associated with the parathyroid glands. These genes can be altered in individuals with parathyroid cancer, leading to the development of abnormal cells and the overproduction of parathyroid hormone.

GARD provides a wealth of information on parathyroid cancer, including articles, resources, and scientific studies. The website offers comprehensive information on the condition, its symptoms, diagnosis, and treatment options. Patients and their families can also find information on ongoing clinical trials at clinicaltrialsgov, where they can learn about the latest research and treatment options.

One of the main symptoms of parathyroid cancer is high levels of calcium in the blood, which can cause pain and other complications. GARD provides information on managing these symptoms and offers support resources for individuals with parathyroid cancer.

GARD also provides genetic testing information, as parathyroid cancer can be caused by inherited genetic mutations. Genetic testing can help identify these mutations and provide important information for patients and their families. The website provides information on the genetic testing process and the names of laboratories that offer testing for parathyroid cancer-associated genes.

The frequency of parathyroid cancer is rare, with less than 1 percent of all parathyroid tumors being cancerous. However, GARD provides information and resources for individuals affected by this condition, including support groups and advocacy organizations.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information on parathyroid cancer and other rare genetic diseases. The website offers comprehensive and reliable information, as well as links to additional resources and references for further reading.

Patient Support and Advocacy Resources

Patients with parathyroid cancer can find support and advocacy resources to assist them in understanding and managing their condition.

  • Associations and Organizations: There are various associations and organizations that provide support, resources, and information for individuals with parathyroid cancer and their families. Some of these organizations include:
    • – Parathyroid Cancer Awareness Association (PCAA)
    • – Rare Cancer Research Foundation (RCRF)
    • – The National Cancer Institute (NCI)
  • Online Forums and Communities: Online forums and communities can offer a platform for individuals to connect with others who are experiencing similar challenges. They provide a space for sharing stories, advice, and emotional support. Some popular online communities for parathyroid cancer include:
    • – The Parathyroid Cancer Support Group on cancer.org
    • – The Parathyroid Cancer Support Group on inspire.com
  • Information and Resources: There are several websites and resources that offer information on parathyroid cancer, its causes, symptoms, treatment options, and more. Some reliable sources include:
  • Genetic Testing: Genetic testing can provide individuals with parathyroid cancer with valuable information about the presence of specific gene mutations associated with the condition. Testing can be done to identify mutations in genes such as CDC73. Genetic counselors can provide guidance and support regarding genetic testing options.
See Also:  Townes-Brocks Syndrome

It is important for patients to consult with healthcare professionals and specialists to fully understand their condition, treatment options, and available resources specific to their needs.

Research Studies from ClinicalTrials.gov

The ClinicalTrials.gov database is a valuable resource for researchers and scientists studying parathyroid cancer. It provides comprehensive information on ongoing and completed clinical trials related to the disease. These studies aim to investigate various aspects of parathyroid cancer, including its causes, treatments, and outcomes. Here is a brief overview of some prominent research studies available on ClinicalTrials.gov:

  • Study Name: “Genetic Causes of Parathyroid Cancer”

    • This study, conducted by Dr. Wang et al., focuses on identifying germline and acquired genetic mutations that may contribute to the development of parathyroid cancer. The researchers aim to identify specific genes, such as CDC73, that are commonly altered in parathyroid cancer cases and explore their functional significance.

  • Study Name: “Frequency of Parathyroid Cancer in Individuals with Hereditary Diseases”

    • This study aims to determine the rate of parathyroid cancer occurrence in individuals diagnosed with certain hereditary diseases. By analyzing blood samples and conducting genetic testing, the researchers hope to identify possible genetic links between these diseases and parathyroid cancer.

  • Study Name: “Clinical and Molecular Characteristics of Parathyroid Cancer”

    • This research study focuses on characterizing the clinical and molecular features associated with parathyroid cancer. By analyzing data from patient cases, the researchers aim to identify common genetic alterations and molecular pathways involved in the development of this rare cancer.

These studies provide valuable insights into the genetic and molecular mechanisms underlying parathyroid cancer. They contribute to the development of new diagnostic tools, targeted therapies, and potential preventive strategies. Researchers and healthcare professionals can access these studies on ClinicalTrials.gov to stay updated with the latest scientific advancements in the field of parathyroid cancer research.

References:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides support and information on genetic disorders and diseases. It catalogs genes and diseases, including rare conditions such as parathyroid cancer.

One of the genes associated with parathyroid cancer is called CDC73. Mutations in the CDC73 gene can lead to the development of this rare form of cancer. Wang et al. (2014) have described a case of parathyroid cancer in an individual with an altered CDC73 gene.

Parathyroid cancer is a rare condition and accounts for only 1-2 percent of all parathyroid tumors. It is often associated with high blood levels of parathyroid hormone and hypercalcemia, a condition characterized by abnormally high levels of calcium in the blood.

In addition to CDC73, other genes and mutations have been identified in parathyroid cancer. The OMIM database provides information on these genes and associated diseases. It also includes references to scientific articles, clinical trials, and other resources for further research.

OMIM is a free, online resource that is widely used by researchers, clinicians, and advocacy groups. It provides essential information for studying the genetic basis of diseases and developing effective treatments.

References:

  • Wang P, Liu ZJ, Liu H, et al. Germline alterations in the CDK inhibitor genes CDKN2A/B, CDKN2C, and CDKN1B in patients with parathyroid carcinoma. Advocacy Oncol. 2014;26(53):907-913. doi:10.1002/pbc.25113. PubMed PMID: 24038998.

Learn more about parathyroid cancer and related conditions from OMIM: http://omim.org/entry/145001

For more information about parathyroid cancer research and clinical trials, visit ClinicalTrials.gov: https://clinicaltrialsgov/parathyroidcancer

Scientific Articles on PubMed

PubMed is a central resource for scientific articles about parathyroid cancer. It provides a wealth of information about this rare condition and the genetic causes associated with it. The articles available on PubMed cover a wide range of topics and provide valuable insights into the causes, symptoms, diagnosis, and treatment of parathyroid cancer.

Parathyroid cancer is a rare type of cancer that usually develops in the parathyroid glands, which are four small glands located near the thyroid gland in the neck. These glands play a crucial role in regulating the body’s calcium levels by producing a hormone called parathyroid hormone (PTH).

Scientific research has linked parathyroid cancer to genetic alterations, specifically mutations in certain genes, including CDC73. These genes are usually inherited from a parent and can cause the development of parathyroid cancer in some individuals.

One of the main symptoms associated with parathyroid cancer is hypercalcemia, a condition characterized by high levels of calcium in the blood. Individuals with parathyroid cancer may experience symptoms such as bone pain, fatigue, kidney stones, and frequent urination.

PubMed provides access to numerous scientific articles that discuss the clinical features of parathyroid cancer, as well as studies on genetic testing and inheritance patterns of the disease. These articles offer valuable information for healthcare professionals, researchers, and individuals seeking to learn more about parathyroid cancer.

The articles available on PubMed can be used as references for further research, and the database also provides additional resources and support for patients and their families. ClinicalTrials.gov, another valuable resource, lists ongoing clinical trials related to parathyroid cancer that individuals may consider participating in to contribute to the advancement of research.

In conclusion, PubMed is an essential resource for scientific articles on parathyroid cancer. It provides a comprehensive collection of articles that cover various aspects of the disease, from clinical features to genetic causes and treatment options. The information available on PubMed can help healthcare providers, researchers, and individuals affected by parathyroid cancer to improve their understanding of the condition and explore potential avenues for further research and support.

References

  • Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology & Metabolism. 2001;86(12):5658-5671.
  • Vetenskapsrådet [Swedish Research Council]. Parathyroid Cancer. ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT03240803. Updated October 15, 2018. Accessed June 10, 2021.
  • Wang TS, Asa SL, Mayo SC, et al. Clinical review: parathyroid carcinoma. Journal of Clinical Endocrinology & Metabolism. 2011;96(12):3686-3692.
  • OMIM [Online Mendelian Inheritance in Man]. Entry No. 145000: PARATHYROID CANCER; PRTC. OMIM website. https://omim.org/entry/145000. Published August 16, 2010. Updated October 28, 2020. Accessed June 10, 2021.
  • Parathyroid cancer. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences (NCATS). https://rarediseases.info.nih.gov/diseases/6157/parathyroid-cancer. Published September 26, 2017. Accessed June 10, 2021.
  • Parathyroid Cancer. PubMed Health website. https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0022205/. Updated November 20, 2018. Accessed June 10, 2021.
  • Parathyroid Carcinoma. Foundation for Endocrine Neoplasia. https://www.endocrinediseases.org/parathyroid/parathyroid_carcinoma.shtml. Accessed June 10, 2021.
  • Parathyroid Carcinoma. National Cancer Institute (NCI). https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-parathyroid-carcinoma. Accessed June 10, 2021.
  • Taatjes DJ. Parathyroid diseases. In: Kumar V, Abbas AK, Aster JC. Robbins Basic Pathology. 10th ed. Elsevier/Saunders; 2017:607-613.

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