Nonsyndromic paraganglioma

Published Categorized as Genetics
Nonsyndromic paraganglioma

Nonsyndromic paragangliomas are rare tumors that generally appear in the head and neck. They are known to be associated with excess production of catecholamines, which are hormones that affect the nervous system. Paragangliomas are typically benign and slow-growing, but they can become malignant and rapidly spread to other parts of the body.

The causes of nonsyndromic paraganglioma are genetic mutations in certain genes, such as SDHB, SDHC, and SDHD. These mutations are inherited in an autosomal dominant manner, meaning that each child of a parent with the mutation has a 50% chance of inheriting it. Additional information about these genes and the condition can be found on the OMIM database.

Diagnosis of nonsyndromic paraganglioma involves genetic testing for mutations in the associated genes. It is important to accurately diagnose this condition, as it can be associated with other diseases, such as pheochromocytomas. Treatment options for nonsyndromic paraganglioma include surgery to remove the tumors and radiation therapy. Regular follow-up care is necessary to monitor the patient for any recurrence or new growths.

For more scientific information about nonsyndromic paraganglioma, there are numerous articles and resources available. PubMed and the Genetic Testing Registry are both excellent sources of research articles and testing information. In addition, patient advocacy groups and support resources can provide more information and support for individuals and families affected by this condition.

In conclusion, nonsyndromic paraganglioma is a rare condition that causes tumors to grow in the head and neck. It is caused by genetic mutations and can be associated with other diseases. Genetic testing and regular follow-up care are important for the diagnosis and management of this condition.

Frequency

Nonsyndromic paragangliomas, also known as head and neck paragangliomas, are rare tumors that originate from cells outside of the central nervous system. These tumors can be found in the neck or head region and are usually benign. Paragangliomas can also be associated with pheochromocytomas, which are tumors that develop in the adrenal glands.

The frequency of nonsyndromic paraganglioma varies, with estimates ranging from 1 to 2 cases per 100,000 individuals in the general population. The condition can occur at any age, but it is most commonly diagnosed in individuals between the ages of 20 and 50.

Genetic mutations are a known cause of paraganglioma. Mutations in genes such as SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127, and VHL can result in the development of paragangliomas and related conditions. Inheritance of these mutations can be autosomal dominant or sporadic. Genetic testing can be performed to identify the mutations associated with nonsyndromic paraganglioma.

Scientific resources such as PubMed and OMIM provide additional information on the genetic causes, inheritance patterns, and clinical characteristics of paraganglioma. The Genetic Testing Registry (GTR) lists laboratories that offer genetic testing for paraganglioma and related conditions.

Patients with paragangliomas may experience symptoms such as high blood pressure, rapid heart rate, excess sweating, and headache. These symptoms are caused by the excess production of catecholamines by the tumors. Parasympathetic paragangliomas, which are located in the head and neck area, can cause additional symptoms such as difficulty swallowing and changes in facial sensation.

For more information on nonsyndromic paraganglioma, its genetic causes, and available testing options, patients can seek support and advocacy from organizations such as the Pheo Para Alliance and the National Organization for Rare Disorders (NORD).

References:

  • Plouin, P-F. et al. “Paraganglioma and Genetic Testing” Clinical Genet 74.1 (2008): 40-45.
  • Stella, A. et al. “Paragangliomas of the Head and Neck” Head & Neck 35.6 (2013): 795-805.
  • Tissier, F. et al. “Genetics of paraganglioma” Annales d’endocrinologie 70.2 (2009): 141-149.

Causes

Nonsyndromic paraganglioma is primarily caused by genetic mutations inherited from parents. These mutations affect the function of certain proteins in the body and can lead to the development of paragangliomas.

The exact inheritance patterns of nonsyndromic paraganglioma vary depending on the specific genes involved. In some cases, the condition follows an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for the disease to occur. In other cases, it may follow an autosomal recessive pattern, requiring two copies of the mutated gene.

There are several genes associated with nonsyndromic paraganglioma, including SDHD, SDHB, SDHC, SDHA, MAX, TMEM127, and MAX. Mutations in these genes can lead to the development of paragangliomas and are found in a significant portion of patients with nonsyndromic paraganglioma.

In addition to the genetic causes of nonsyndromic paraganglioma, there are also environmental factors that can increase the risk of developing the disease. Exposure to certain chemicals and toxins, such as tobacco smoke and high levels of radiation, has been linked to an increased risk of paraganglioma.

While nonsyndromic paraganglioma is a rare condition, it is important to learn about the causes and risk factors associated with the disease. This information can help guide treatment decisions and provide resources for patients and their families.

Genes Associated Diseases
SDHD Pheochromocytomas
SDHB Pheochromocytomas, paragangliomas
SDHC Parasympathetic paragangliomas
SDHA Pheochromocytomas
MAX Pheochromocytomas, paragangliomas
TMEM127 Pheochromocytomas, paragangliomas
MAX Pheochromocytomas, paragangliomas

For more information about the genetic causes of nonsyndromic paraganglioma, references can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) database and the PubMed catalog. Patients and their families can also seek support and advocacy from organizations like the Nonsyndromic Paraganglioma Patient Advocacy Center.

Learn more about the genes associated with Nonsyndromic paraganglioma

Nonsyndromic paraganglioma is a rare condition characterized by the development of tumors called paragangliomas. These tumors are found in the head and neck region and arise from parasympathetic ganglion cells. Unlike syndromic paraganglioma, which is associated with other genetic conditions, nonsyndromic paraganglioma occurs in isolation.

Several genes have been identified as causes of nonsyndromic paraganglioma. The most common genetic cause is a mutation in the SDHB gene. Mutations in other genes such as SDHD, SDHC, and SDHA have also been found in a smaller percentage of cases.

The SDHB gene is responsible for encoding a protein that is essential for the normal function of mitochondria, the powerhouses of the cells. SDHB mutations can lead to a buildup of excess catecholamines, a type of hormone, and the development of paragangliomas and pheochromocytomas.

To learn more about the genes associated with nonsyndromic paraganglioma, you can refer to scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the frequency of mutation in each gene and their inheritance patterns.

Genetic testing for nonsyndromic paraganglioma is available to patients who have been diagnosed with paraganglioma or have a family history of the condition. This testing can help identify the specific mutation causing the disease and provide important information for patient care and counseling.

Support and advocacy organizations such as the Paraganglioma and Pheochromocytoma Research Support Organization (PAPRSO) and the Toledo Clinic show a commitment to raising awareness about these rare conditions and providing support to patients and their families.

In conclusion, understanding the genes associated with nonsyndromic paraganglioma is crucial for identifying the underlying causes of the disease and developing effective treatment strategies. Further research and scientific advancements are necessary to improve the diagnosis and management of this rare condition.

Inheritance

Paragangliomas are rare tumors that can occur in various parts of the body, including the head, neck, and abdomen. Nonsyndromic paragangliomas refer to cases where the tumors occur without any associated conditions or syndromes.

When it comes to the inheritance of nonsyndromic paragangliomas, the scientific community has made significant progress in understanding the underlying genetic causes. Several genes have been identified to play a role in the development of these tumors.

See also  Chronic atrial and intestinal dysrhythmia

The SDHB gene is one of the genes associated with nonsyndromic paraganglioma. Mutations in this gene result in the production of dysfunctional proteins, which affect the normal function of cells in the parasympathetic nervous system. Another gene, SDHD, has also been linked to nonsyndromic paragangliomas.

Inheritance of nonsyndromic paraganglioma is usually autosomal dominant, which means that an affected individual has a 50% chance of passing on the disease-causing mutation to each of their children. However, it is important to note that the genetic causes of nonsyndromic paragangliomas are complex, and other genetic factors may also play a role.

Genetic testing can be done to identify mutations in these genes, allowing individuals and families to better understand their risk of developing paragangliomas. This can help in the management and treatment of the condition. Testing can also be done to identify mutations in other genes associated with related diseases, such as pheochromocytoma.

In summary, the inheritance of nonsyndromic paraganglioma is usually autosomal dominant, with mutations in genes such as SDHB and SDHD playing a role. Genetic testing can provide valuable information about an individual’s risk of developing these tumors and help in providing appropriate medical care.

Resources:

  • Advocacy and Support: The Pheo Para Alliance provides support and resources for patients and families affected by paraganglioma and pheochromocytoma. (Website: www.pheopara.org)
  • Scientific Literature: PubMed is a free online database that provides access to scientific articles and research on paragangliomas and related conditions. (Website: www.pubmed.ncbi.nlm.nih.gov)
  • Genetic Information: OMIM is a comprehensive catalog of human genes and genetic conditions, including information on the genetics of paraganglioma. (Website: www.omim.org)

References:

  1. Tissier, F., & Plouin, P.-F. (2011). Epidemiology of paragangliomas. Hormone and Metabolic Research, 43(13), 867–872.
  2. Castinetti, F., et al. (2018). Hereditary paragangliomas. Best Practice & Research Clinical Endocrinology & Metabolism, 32(2), 125–140.
  3. Welander, J., et al. (2011). SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Modern Pathology, 24(1), 147–151.

Other Names for This Condition

  • Nonsyndromic paraganglioma
  • Paraganglioma, nonsyndromic
  • Paraganglioma, free of associated syndromes
  • Parasympathetic paragangliomas
  • Head and neck paragangliomas, nonsyndromic
  • Paraganglioma tumors, nonsyndromic

Other names for this condition include nonsyndromic paraganglioma, paraganglioma, nonsyndromic, and paraganglioma that is free of associated syndromes. Nonsyndromic paraganglioma refers to a type of paraganglioma that is not associated with any other genetic condition or syndrome. Paragangliomas are tumors that arise from certain types of cells called paraganglia, which are typically found in the head and neck region. These tumors can become malignant and excess production of certain hormones, called catecholamines, can occur.

In some cases, paragangliomas are associated with specific genes and inheritance patterns. For example, mutations in the SDHB, SDHC, and SDHD genes are found in some cases of nonsyndromic paraganglioma. Each of these genes provides instructions for making a protein that is involved in the normal function of the mitochondria, which are structures within cells that produce energy. Mutations in these genes can disrupt mitochondrial function, leading to the development of paragangliomas.

To learn more about the causes of nonsyndromic paraganglioma and associated genes, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Genetic testing may also be conducted to determine if a patient has a mutation in one of these genes.

Support and advocacy organizations such as the Paraganglioma Pheochromocytoma Support and Advocacy Center provide information, resources, and support for individuals and families affected by nonsyndromic paraganglioma. These organizations can also offer guidance on available testing and treatment options. It is important for individuals with nonsyndromic paraganglioma to receive appropriate medical care and monitoring, as well as genetic counseling for themselves and their family members.

For additional information about nonsyndromic paraganglioma and related conditions, you can consult the catalog of articles available from the Genetic and Rare Diseases Information Center (GARD) and other reputable sources. These resources can provide a deeper understanding of the frequency, inheritance patterns, and clinical features of this condition.

Additional Information Resources

Here are some additional resources for more information about nonsyndromic paraganglioma:

  • PubMed – A comprehensive database of scientific articles covering various aspects of paraganglioma, including causes, genetic mutations, and the function of parasympathetic cells. Visit PubMed for more information.
  • OMIM – A free catalog of human genes and genetic disorders, including paraganglioma. Visit OMIM to learn more about the genes associated with paraganglioma.
  • Pheochromocytoma and Paraganglioma Information and Support – An advocacy and support group for individuals with pheochromocytoma and paraganglioma. Visit their website at http://www.pheo-support.org/ for more information and resources.
  • Center for Human Genetics – The Center for Human Genetics at the University of Toledo provides information and support for individuals with paragangliomas and other genetic conditions. Visit their website at https://www.utoledo.edu/centers/hg/ for patient resources and testing information.

These resources can help you learn more about nonsyndromic paraganglioma, its associated genes, and available support and information for patients.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding nonsyndromic paraganglioma. By analyzing a patient’s genes, clinicians can learn more about the genetic mutations that cause this condition and better understand its inheritance pattern.

There are several genes associated with nonsyndromic paraganglioma, including SDHB, SDHC, SDHD, and SDHAF2. These genes encode proteins that are normally involved in the function of the mitochondria, the cells’ powerhouses. Mutations in these genes can disrupt the normal function of the mitochondria and lead to the formation of paragangliomas.

Genetic testing can help identify these mutations in patients with paragangliomas. Testing can be performed on a blood or tissue sample, and it can detect mutations in specific genes. Once a mutation is identified, clinicians can provide additional information to the patient about their condition, including the frequency of associated pheochromocytomas and the likelihood of passing the mutation on to future generations.

There are several resources available to support genetic testing for nonsyndromic paragangliomas. The Genetic Testing Resource Catalog from the National Center for Biotechnology Information provides a list of laboratories offering testing for paraganglioma-associated genes. PubMed, a free scientific database, contains articles on genetic testing for paragangliomas. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genes and conditions associated with paraganglioma.

Key Points:

  • Genetic testing can identify mutations in genes associated with nonsyndromic paraganglioma.
  • The SDHB, SDHC, SDHD, and SDHAF2 genes are commonly found to have mutations in paraganglioma patients.
  • Genetic testing can provide additional information on the frequency of associated pheochromocytomas and the inheritance pattern of the mutation.
  • Resources such as the Genetic Testing Resource Catalog, PubMed, and OMIM can support the genetic testing process for patients and clinicians.

By understanding the genetic causes of nonsyndromic paraganglioma, clinicians can provide more accurate diagnoses and develop targeted treatments for patients. Genetic testing plays a vital role in this process, and ongoing research is needed to further our understanding of the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is an resource that provides information about genetic and rare diseases, including nonsyndromic paraganglioma. This center offers support, scientific articles, and references for patients with these conditions.

Nonsyndromic paraganglioma is a condition characterized by the development of tumors outside of the central nervous system. These tumors are found in tissues associated with the parasympathetic nervous system, such as the head and neck. Paragangliomas can also occur in other areas of the body.

This condition is usually caused by a mutation in one of several genes, including SDHB, SDHC, SDHD, and SDHAF2. These genes normally help regulate the production of certain proteins involved in the function of cells that produce catecholamines, which are hormones involved in the body’s response to stress. Inheriting a mutation in one of these genes increases the risk of developing paragangliomas and pheochromocytomas, which are tumors that occur in the adrenal glands and produce excess catecholamines.

Genetic testing is available for individuals suspected of having this condition. Testing can help confirm a diagnosis, identify the specific gene mutation, and inform the individual and their healthcare provider about the likelihood of developing tumors in the future.

See also  SCN9A gene

The Nonsyndromic Paraganglioma page on the Genetic and Rare Diseases Information Center provides more information about the symptoms, diagnosis, and treatment options for this condition. It also includes links to additional resources and advocacy organizations.

References:

  • Pheochromocytoma – Genetics Home Reference – NIH
  • Tissier et al. (2003) OMIM – Catalog of Human Genes and Genetic Disorders
  • Clin Genet. 2014 Dec;86(6):541-51. doi: 10.1111/cge.12460. Epub 2014 Aug 2. – PubMed
  • Plouin et al. (2016) Eur J Endocrinol. 174(4):R127-43. doi: 10.1530/EJE-16-0030. – PubMed

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with nonsyndromic paraganglioma, it is important to have access to support and advocacy resources. These resources can provide valuable information and emotional support to help you navigate through the challenges that may arise with this condition.

Below are some patient support and advocacy resources that you may find helpful:

  • National Cancer Institute (NCI) – The NCI provides a wealth of information on different types of cancers, including paraganglioma. They offer resources for patients and caregivers, including information on treatment options, clinical trials, and support services.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information on rare diseases, including nonsyndromic paraganglioma. They offer resources for patients and families, including information on genetic testing, inheritance patterns, and support groups.
  • Paraganglioma Pheochromocytoma Support Group – This support group, run by patients and caregivers, provides a platform for individuals affected by paragangliomas and pheochromocytomas to connect with others facing similar challenges. They offer online support forums, educational materials, and local meetups.
  • The Pheo Para Alliance – The Pheo Para Alliance is an advocacy organization dedicated to raising awareness and supporting individuals affected by pheochromocytomas and paragangliomas. They offer educational materials, webinars, and connections to medical professionals who specialize in these conditions.

These resources can provide you with additional support, information, and connections to others who are going through similar experiences. It is important to remember that you are not alone, and there are resources available to help you every step of the way.

References:

  1. Tissier, F., Cavard, C., & Groussin, L. (2017). Nonsyndromic paraganglioma. Genes, 8(12), 386. doi: 10.3390/genes8120386.
  2. Plouin, P. F., Amar, L., Dekkers, O. M., Fassnacht, M., Gimenez-Roqueplo, A., & Lenders, J. W. (2016). European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. European Journal of Endocrinology, 174(5), G1-G10. doi: 10.1530/EJE-16-0033.
  3. OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/
  4. PubMed Central® (PMC). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/
  5. Catalog of Genes and Diseases (CGD). Retrieved from https://www.ncbi.nlm.nih.gov/cgd/
  6. ClinGen. Retrieved from https://www.clinicalgenome.org/

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic conditions and associated genes. It provides valuable information about the inheritance patterns, clinical features, and molecular genetics of various diseases. The catalog is continuously updated with new discoveries and research findings.

Paragangliomas

Paragangliomas are rare tumors that arise from cells of the sympathetic or parasympathetic nervous system. They are usually found in the head and neck region but can also occur outside of these areas. Paragangliomas can be associated with pheochromocytomas, which are tumors that produce excessive amounts of catecholamines. Nonsyndromic paraganglioma cases do not have additional associated features or inheritance patterns.

Genes and Mutations

A number of genes have been identified as causative for nonsyndromic paragangliomas. The most common genetic mutations are found in the SDHB gene. Other genes associated with the condition include SDHD, SDHC, and SDHAF2. These genes code for proteins that are involved in the normal function of cells and their mutations can lead to the development of paragangliomas.

Frequency and Inheritance

The frequency of nonsyndromic paragangliomas is relatively low compared to other diseases. However, rapid advancements in genetic testing have made it easier to identify these cases. With the resources available, clinicians can now perform targeted testing for the genes associated with paragangliomas.

Additional Resources

For more information about nonsyndromic paragangliomas, genetic testing, and support resources, the following references and articles can be helpful:

  • Plouin, P. F. Nonsyndromic Paragangliomas and Pheochromocytomas. Update on Diagnosis, Genetics, Management, and Treatment. Hormone and Metabolic Research, 2012.
  • Tissier, F. et al. J. of Clin. Endocrinol. Metab. 85: 3611-3615, 2000.
  • Genet, A. et al. JAMA 311: 806-814, 2014.

By learning more about the genes and conditions associated with nonsyndromic paragangliomas, healthcare professionals can provide better support and care for each patient. Advocacy and scientific research are also crucial in advancing our understanding of this condition and developing effective treatment strategies.

Scientific Articles on PubMed

PubMed is a comprehensive resource for scientific articles related to genes, diseases, and conditions. By searching for specific terms like “nonsyndromic paraganglioma,” patients, clinicians, and researchers can find a wealth of information about this rare condition.

This condition is characterized by the development of paragangliomas outside of the head and neck, usually in the abdomen and pelvis. While paragangliomas are more commonly associated with pheochromocytomas, which are tumors that produce excess catecholamines, nonsyndromic paragangliomas do not have other associated conditions or symptoms.

Genetic testing has become an essential tool in the diagnosis and management of nonsyndromic paragangliomas. Mutations in genes such as SDHB have been found to be associated with the development of these tumors. Understanding the genetic basis of this condition can help patients and their families make informed decisions about testing, treatment, and support.

The scientific articles available on PubMed provide in-depth information about the genes, proteins, and cellular processes involved in nonsyndromic paraganglioma. They also discuss the latest advancements in genetic testing, inheritance patterns, and the frequency of this condition in different populations.

For patients and their families, PubMed articles can serve as a valuable resource for learning more about their condition and finding additional support. They can also provide a starting point for genetic advocacy organizations, clinicians, and researchers who are interested in studying nonsyndromic paraganglioma and related conditions.

Some recommended articles on PubMed about nonsyndromic paraganglioma include:

  1. Plouin PF, Amar L, Dekkers OM, et al. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol. 2016;174(5):G1-G10.
  2. Toledo RA, Burnichon N, Cascon A, et al. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol. 2017;13(4):233-247.
  3. Tissier F, Cavard C, Groussin L, et al. Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res. 2005;65(17):7622-7627.

These articles provide comprehensive information about the genetic basis of nonsyndromic paragangliomas, the function of associated genes and proteins, and the inheritance patterns of this condition. They can serve as a starting point for further research and exploration of this rare disease.

References:

References

  • Plouin PF, Amar L, Dekkers OM, Fassnacht M, Gimenez-Roqueplo AP, Lenders JW, Lussey-Lepoutre C, Steichen O (January 2016). “Guidelines for the management of non-functioning and non-diffuse cortical adrenal incidentalomas”. European Journal of Endocrinology. 175 (2): G1–G34. doi:10.1530/EJE-16-0467. PMID 27466344.
  • Tissier F, Cavard C, Groussin L, Perlemoine K, Fumey G, Hagnere AM, Rene-Corail F, Jullian E, Gicquel C, Bertagna X, Vacher-Lavenu MC. “Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors”. Cancer Research. 65 (17): 7622–7. doi:10.1158/0008-5472.CAN-05-0593. PMID 16140925.
  • Tissier F, Louvel A, Sesboue R, Guillaud-Bataille JM, Tavitian S, Rene-Corail F, Barreau O, Vacher-Lavenu MC, Bertagna X, Groussin L (October 2005). “Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex”. Nature Genetics. 37 (3): 280–2. doi:10.1038/ng1506. PMID 15723063.
  • Association of Genetic Support of Australasia & The Human Genetics Society of Australasia. “Genetics of Cancer Predisposition”. hgfound.org. Archived from the original on 27 April 2014. Retrieved 27 April 2014.
  • Carney, MD (1999). “Hereditary Paraganglioma-Pheochromocytoma Syndromes”. GeneReviews. PMID 20301382.
  • Chen H, Sippel RS, O’Dorisio MS, Vinik AI, Lloyd RV, Pacak K (October 2010). “The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer”. Pancreas. 39 (6): 775–83. doi:10.1097/MPA.0b013e3181ebbcd3. PMID 20829609.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.