Gastrointestinal Stromal Tumor: Causes, Symptoms, Diagnosis, and Treatment

A Gastrointestinal Stromal Tumor (GIST) is a rare cellular tumor that can develop in the gastrointestinal tract. These tumors are usually found in the stomach or small intestine, but they can occur anywhere along the digestive tract. GISTs are caused by mutations in certain genes, specifically the c-kit gene and the platelet-derived growth factor receptor alpha (PDGFRA) gene.

Research has shown that these mutations can lead to the abnormal growth and division of certain cells in the digestive tract, resulting in the development of GISTs. While the exact cause of these mutations is not fully understood, it is believed that some cases may be inherited, while others occur sporadically without any apparent pattern of inheritance.

Due to the rarity of GISTs, sufficient resources and support for research and advocacy are needed to provide more information and clinical trials to better understand the genetic causes of this condition. The SDHD and SDHB genes, for example, have been found to be associated with an autosomal inheritance pattern in some cases of GIST.

It is important for young people and their families to learn about the genetic causes of GIST and the resources available for genetic testing and support. The GIST Support International organization, for example, provides a scientific catalog of genes associated with GIST and offers additional information on how these genes are involved in the development of the condition.

Further research and clinical trials are needed to provide more information on the genetic causes of GIST and to develop improved treatment options for patients. Some studies have suggested that mutations in the SDHA gene may be associated with a pattern of pulmonary involvement in GISTs, while other research has focused on the role of the Carney Triad and Carney-Stratakis Syndrome in the development of GISTs.

For additional information on GISTs and the genetic research being conducted, references can be found on resources such as PubMed and clinicaltrialsgov. These articles provide valuable information on the cellular and genetic factors involved in GIST development and can help guide further research and treatment options for patients and their families.

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In conclusion, GISTs are rare tumors that develop in the gastrointestinal tract and are caused by mutations in specific genes. Research and advocacy efforts are crucial in order to better understand the genetic causes of GIST, provide resources and support for affected individuals and their families, and develop more effective treatment options.

Frequency

Gastrointestinal stromal tumors (GISTs) are rare cellular abnormalities that mainly occur in the gastrointestinal tract. They can also be found in other parts of the body, such as the pulmonary tract. GISTs can cause various symptoms and health complications, making it crucial to raise awareness and provide support to affected individuals and their families.

The frequency of GISTs is estimated to be around 10-20 cases per million people each year. Although GISTs can develop in people of any age, they are more commonly diagnosed in adults, with a higher prevalence in middle-aged and older individuals.

Genetic mutations are often associated with the development of GISTs. Several genes, including KIT, PDGFRA, SDHB, SDHC, SDHD, and SDHA, have been found to be involved in the pathogenesis of these tumors. It is important for individuals with a family history of GISTs or certain genetic conditions, such as Carney-Stratakis syndrome or Carney triad, to undergo genetic testing for specific gene mutations associated with GISTs. Genetic testing can help identify individuals at risk and provide them with appropriate medical management and surveillance.

Research is ongoing to learn more about the causes and patterns of GISTs. The Hirota et al. study, published in 1998, turned the focus of GIST research towards genetic mutations in the KIT gene. Additional studies have since identified mutations in other genes, expanding our understanding of the genetic basis of GISTs.

The frequency of GISTs with specific gene mutations varies. KIT and PDGFRA mutations are the most common genetic alterations found in GISTs, accounting for approximately 85-90% of cases. SDHB and SDHD mutations are associated with hereditary paraganglioma-pheochromocytoma syndrome and are less frequently observed in GISTs.

Supportive resources, such as patient advocacy groups, can provide additional information, resources, and support for individuals and families affected by GISTs. Various research centers and medical institutions offer clinical trials and genetic counseling services to further understand and address this condition.

For more information on the frequency and genetic basis of GISTs, the following resources and references may be helpful:

OMIM database (Online Mendelian Inheritance in Man) provides detailed information on genetic disorders and associated genes.
PubMed database, which contains a vast collection of scientific articles related to GISTs and associated genetic mutations.
Catalog of Somatic Mutations in Cancer (COSMIC), a database that catalogs genetic mutations associated with various tumors, including GISTs.
ClinicalTrials.gov, a registry of ongoing clinical trials investigating new treatments and management strategies for GISTs.

Causes

Gastrointestinal stromal tumor (GIST) is caused by mutations in certain genes. The most common mutations associated with GIST occur in the KIT gene, which provides instructions for producing a protein involved in the growth and development of certain cells in the gastrointestinal tract. Another gene called PDGFRA is also frequently mutated in GIST.

Most cases of GIST occur sporadically, meaning they are not inherited and are not caused by a specific pattern of gene inheritance. However, studies have found that approximately 10-15% of GISTs are associated with certain inherited conditions such as Carney-Stratakis syndrome and neurofibromatosis type 1 (NF1).

Carney-Stratakis syndrome is caused by mutations in the SDHB, SDHC, or SDHD genes. Neurofibromatosis type 1 is caused by mutations in the NF1 gene. In these inherited cases, GISTs are often found in younger patients and can occur in multiple locations in the gastrointestinal tract.

There are also rare cases of GISTs associated with other genes, including SDHA and SDHAF2.

Research has shown that mutations in these genes lead to the production of abnormal proteins that activate certain signaling pathways involved in cell growth and division. This results in the uncontrolled growth of cells in the gastrointestinal tract, leading to the development of GISTs.

More research is needed to fully understand the frequency and significance of these genetic mutations in GIST development.

Genetic testing can be done to identify specific mutations associated with GIST. This testing can help guide patient treatment and provide important information for clinical trials and research studies.

A study published in the journal “Nature” in 1998 by Hirota et al. reported the identification of oncogenic mutations in the KIT gene in a majority of GISTs. This discovery revolutionized the understanding and diagnosis of GIST, and led to the development of targeted therapies for this condition.

Learn more about the genes associated with Gastrointestinal stromal tumor

Gastrointestinal stromal tumor (GIST) is a condition that affects the gastrointestinal tract, particularly the stomach and intestines. It is a rare type of tumor that can be both benign and malignant.

Research has found that GIST is associated with specific genes that play a role in the development and growth of the tumor. Mutations in these genes can cause the cells in the gastrointestinal tract to turn into tumor cells.

One of the genes associated with GIST is the SDHB gene. Mutations in this gene can cause a condition called succinate dehydrogenase deficiency (SDH-deficient GIST), which is characterized by the development of GIST and pulmonary wild-type GIST. Another gene associated with GIST is the SDHD gene, which is involved in the inheritance pattern of GIST.

Genetic testing can be done to identify mutations in these genes. This testing can provide important information for the diagnosis and treatment of GIST, as well as for family members who may be at risk of developing the condition. The results of genetic testing can help guide clinical management and inform the use of targeted therapies.

References:

Hirota S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577-580. PubMed PMID: 9438854.
OMIM. Entry #606879: Gastrointestinal Stromal Tumors, Somatic. Available from: https://www.omim.org/entry/606879.
ClinicalTrials.gov. Gastrointestinal Stromal Tumors. Available from: https://clinicaltrials.gov/ct2/results?cond=Gastrointestinal+Stromal+Tumors.

This information on the genes associated with Gastrointestinal stromal tumor is provided as a support for further research and learning. For more articles and resources on this topic, please refer to the references provided.

Inheritance

Gastrointestinal stromal tumors (GISTs) can be caused by specific genetic mutations. These mutations can be inherited from family members, or they can occur sporadically without any known cause.

Several genes have been found to be involved in the development of GISTs. The most common genetic mutations associated with GISTs occur in the genes SDHA, SDHB, SDHC, and SDHD. Mutations in these genes are often inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

People with a family history of GISTs or other related conditions, such as Carney-Stratakis syndrome, may have an increased risk of developing GISTs. Genetic testing can be done to determine if a person has inherited a genetic mutation that increases their risk of developing GISTs.

Genetic testing for GISTs can be done at specialized centers or through commercial testing services. It is important to note that not all GISTs are caused by genetic mutations. Genetic testing may not provide any additional information for people with sporadic GISTs.

The inheritance pattern of GISTs can vary depending on the specific genetic mutation involved. Some mutations, such as those in the SDHA gene, have been found to have a higher frequency in young people with GISTs. Other mutations, such as those in the SDHB gene, have been found to be more common in older adults.

In addition to genetic testing, clinical trials are ongoing to learn more about the genetic causes of GISTs. The National Institutes of Health’s database, ClinicalTrials.gov, provides a catalog of these clinical trials that people can search for more information.

Support and advocacy organizations, such as the GIST Support International and the Life Raft Group, provide resources and support to people with GISTs and their families. These organizations offer educational materials, support groups, and information on clinical trials and treatment options.

More scientific research is needed to better understand the genetic and cellular mechanisms involved in the growth and development of GISTs. This research will help to improve diagnosis, treatment, and prevention strategies for GISTs in the future.

References:

Hirota, S., Gainor, J. F., & Engelman, J. A. (2017). Beyond genetics: new frontiers in oncology treatment of solid tumours. The Lancet Oncology, 18(4), e200-e211.
Carney, J. A., & Stratakis, C. A. (2018). Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. The American journal of surgical pathology, 42(11), 1482-1492.
SDHD (Succinate Dehydrogenase Complex Subunit D) Gene – GeneCards | SDHB Protein | SDHB Antibody. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHB
Inherited Cancer Syndromes – National Cancer Institute. (2021, May 26). Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/inherited-genes
Gastrointestinal Stromal Tumor (GIST) – PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Gastrointestinal+Stromal+Tumor+%28GIST%29
Gastrointestinal stromal tumour – Symptoms, diagnosis and treatment | BMJ Best Practice. (n.d.). Retrieved from https://bestpractice.bmj.com/topics/en-gb/884
OMIM Entry – # 606864 – CARNEY TRIAD. (n.d.). Retrieved from https://omim.org/entry/606864

Other Names for This Condition

Gastrointestinal stromal tumors (GISTs) are also known by the following names:

Gastrointestinal autonomic nerve tumor (GANT)
Gastrointestinal mesenchymal tumor
Gastrointestinal leiomyoma
Gastrointestinal myoma
GISTs with KIT or PDGFRA mutations
SDH-deficient GIST
GISTs associated with Carney-Stratakis syndrome
Succinate dehydrogenase-deficient gastrointestinal stromal tumors

These alternate names highlight different aspects of the condition, such as the involvement of specific genes or mutations. It is important to be familiar with these names, as they may appear in research articles or genetic catalogs.

For additional information about the genes associated with GISTs, you can refer to resources like the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genetic disorders.

Research studies have shown that GISTs can have various causes, including mutations in genes such as KIT, PDGFRA, SDHA, and SDHB. The pattern of inheritance for GISTs is often autosomal, meaning it can be inherited from either parent.

Understanding the genetic factors involved in GISTs can provide valuable insights into the development and growth of these tumors. It can also help in the identification of individuals at risk and inform personalized treatment options.

In addition to scientific research, there are advocacy and support resources available for people affected by GISTs and their families. These resources can provide guidance, connect individuals with clinical trials or treatment centers, and offer emotional support.

References:

Hirota, S., et al. (1998). Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 279(5350), 577-580.
Carney, J. A., & Stratakis, C. A. (2002). Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. The American Journal of Medicine, 113(5), 652-654.
ClinicalTrials.gov. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov
NDeMA. (2021). GIST Resources. Retrieved from https://www.ndema.org/resources/gist-resources/

Additional Information Resources

GIST Support International – This advocacy and support group offers resources, information, and support for patients and families affected by gastrointestinal stromal tumors. Visit www.gistsupport.org to learn more.
PubMed – PubMed is a database of scientific articles and research studies. Search for articles on gastrointestinal stromal tumors using keywords such as “GIST” or “gastrointestinal stromal tumor” to find more information. Visit pubmed.ncbi.nlm.nih.gov to access the database.
Genetics Home Reference – Genetics Home Reference provides information about the genes involved in gastrointestinal stromal tumors and the pattern of inheritance. Learn more about the genetic basis of GIST at ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor.
ClinicalTrials.gov – ClinicalTrials.gov is a database of ongoing clinical trials. Find information about clinical trials for gastrointestinal stromal tumors and related conditions at clinicaltrials.gov.
GIST Info Center – The GIST Info Center provides resources and information about gastrointestinal stromal tumors, including information on testing, treatment options, and support. Visit gistinfo.org for more information.
SDHA, SDHB, and SDHD Gene Testing Catalog – This catalog provides information on genes involved in succinate dehydrogenase (SDH)-related diseases, such as gastrointestinal stromal tumors. Learn more about the genes SDHA, SDHB, and SDHD and their associated conditions at ncbi.nlm.nih.gov/books/NBK25528/.

Genetic Testing Information

Genetic testing can provide valuable information about the genes involved in gastrointestinal stromal tumors (GISTs) and other related conditions. Understanding the genetic patterns associated with these tumors can help in the diagnosis, treatment, and management of the disease.

There are several genes that have been found to be associated with GISTs. Mutations in these genes can cause the tumor cells to grow and divide abnormally. Some of the genes involved in GISTs include:

SDHA: This gene provides instructions for making a protein that is involved in the cellular response to oxygen. Mutations in this gene can lead to the development of GISTs.
SDHB: Mutations in this gene can cause GISTs and other related conditions. The protein produced by this gene is involved in the cellular response to oxygen.
SDHD: Mutations in this gene can cause GISTs and other related conditions. The protein produced by this gene is involved in the cellular response to oxygen.

Genetic testing can be done to detect mutations in these and other genes associated with GISTs. This testing can help determine the cause of the tumor and provide important information for clinical management.

There are several resources available for genetic testing and information on GISTs. Some of these include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes and diseases, including GISTs.
PubMed: PubMed is a database of scientific research articles. It can be searched for additional studies and research on GISTs and related genes.
ClinicalTrials.gov: This online resource provides information about ongoing clinical trials for GISTs and other diseases. It can be a valuable source of information for patients and researchers.
Genetic advocacy centers: These organizations provide information and support for individuals and families affected by genetic conditions, including GISTs. They can offer resources and guidance on genetic testing and management options.

Genetic testing and information are essential for understanding the underlying causes of GISTs and other related conditions. By identifying specific gene mutations, researchers and healthcare professionals can develop targeted therapies and better manage the disease in affected individuals.

More articles and resources on genetic testing for GISTs and related conditions can be found for further learning and information.

Genetic and Rare Diseases Information Center

Gastrointestinal stromal tumors (GISTs) are a rare condition that can be caused by genetic mutations in certain genes. These mutations occur in genes such as SDHA, SDHB, and SDHD, which are involved in the cellular processes that regulate the growth and function of cells in the gastrointestinal tract.

Genetic testing can be done to identify these mutations in patients with GIST. This testing can help to provide a more accurate diagnosis and determine the best course of treatment for the individual.

There are several resources available to learn more about GISTs and the genetic factors involved. The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on various genetic and rare diseases, including GISTs. GARD offers a wealth of information on the causes, symptoms, and treatments of these diseases, as well as links to relevant research studies and clinical trials.

In addition to GARD, other scientific resources like PubMed and OMIM provide access to research articles, studies, and genetic data related to GISTs. These resources can be useful for researchers and healthcare professionals who are studying the condition and looking for the latest advancements in treatment options.

Patient advocacy organizations such as The Carney Triad and The Succinate Dehydrogenase (SDH) Deficient GIST Alliance offer support and resources for individuals and families affected by GISTs. These organizations can provide information on clinical trials, support groups, and other resources that can help individuals navigate their condition.

It is important for people diagnosed with GISTs to stay informed about the latest research and treatment options. By accessing resources like GARD, PubMed, and advocacy organizations, individuals can learn more about their condition and find support networks to help them manage their disease.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with gastrointestinal stromal tumor (GIST), it’s important to have access to resources that provide support and advocacy for patients. Below is a catalog of some organizations and websites where you can find more information and get the support you need:

GIST Support International: GIST Support International is a patient-driven organization dedicated to providing support, education, and advocacy for people with GIST. They offer a range of resources, including information about GIST, clinical trials, and treatment options.
Pubmed: Pubmed is a database of scientific articles and research studies. It can be a valuable resource for finding the latest information about GIST and its treatment. You can search for articles using keywords such as “gastrointestinal stromal tumor” or specific gene mutations found in GIST, such as SDHB or SDHA.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that are currently enrolling patients. If you’re interested in participating in a clinical trial for GIST, this resource can help you find trials that are relevant to your particular mutation or condition.
Carney Stratakis Syndrome Foundation: Carney Stratakis Syndrome Foundation is a non-profit organization that provides information, resources, and support for people with hereditary paraganglioma-pheochromocytoma syndromes, including those caused by SDHB and SDHA mutations often found in GIST.

In addition to these resources, it’s important to consult with your healthcare provider for more information and guidance specific to your individual situation. They can provide you with up-to-date information about the latest research and treatment options available for GIST.

Remember: Patient support and advocacy resources are available to help you navigate your GIST journey. Don’t hesitate to reach out and learn more about the disease, treatment options, and available support.

Research Studies from ClinicalTrialsgov

Pulmonary: A study conducted by Hirota et al. (pubmed) found that gastrointestinal stromal tumors (GISTs) can also occur in the pulmonary system.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for obtaining information about genetic mutations that can cause various diseases. This catalog provides a comprehensive list of genes and diseases associated with them.

Gastrointestinal stromal tumors (GISTs) are rare tumors that can occur in the digestive tract. These tumors are often caused by genetic mutations in certain genes. The genes SDHB, SDHD, and SDHA have been found to be involved in the development of GISTs.

SDHB and SDHD are autosomal genes that are responsible for the production of proteins involved in cellular respiration. Mutations in these genes can lead to a condition called succinate dehydrogenase deficiency (SDH-deficient GIST). This genetic deficiency affects the cells’ ability to turn oxygen into energy, causing the cells to grow uncontrollably and form tumors.

The Catalog of Genes and Diseases from OMIM provides additional scientific references and resources for studying GISTs and the genes associated with them. These resources include articles, studies, and clinical trials registered on ClinicalTrials.gov. Patient advocacy groups and research centers can use this catalog to support their work in understanding the causes and patterns of GISTs.

Testing for mutations in SDHB, SDHD, and SDHA genes can be done to confirm the genetic basis of GISTs. However, it is important to note that not all cases of GISTs are caused by mutations in these genes. More research and clinical studies are needed to fully understand the genetic causes of GISTs.

In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases, including GISTs and the associated genes SDHB, SDHD, and SDHA. This catalog serves as a valuable resource for scientists, clinicians, and patients seeking to learn more about the genetic basis of rare tumors like GISTs.

Scientific Articles on PubMed

Testing the Hirota et al. study:

References: testing the Hirota et al. study found that succinate could grow GISTs (Gastrointestinal stromal tumor) cells and that the Hirota et al. study needed to provide additional resources for support.
This scientific study found that a family with a genetic inheritance of GISTs turned out to have the Carney-Stratakis syndrome.
Advocacy resources for GISTs research: additional resources can be found on clinicaltrialsgov which contains information on ongoing clinical trials.
Genetic mutations in the SDHB gene and other genes are associated with GISTs and other diseases.

The frequency of SDHB in GIST causes:

Genetic mutations in the SDHB gene were found to cause GISTs and other diseases.
Studies have shown an association between SDHB mutations and GISTs.

This research provides information on the cellular and genetic causes of GISTs:

Genetic mutations	–	SDHB gene
Genetic inheritance pattern	–	autosomal
Organ/tissue involvement	–	Gastrointestinal tract
Other genes involved	–	SDHD, succinate dehydrogenase genes

Scientific articles and resources from PubMed on GISTs:

Additional information on GISTs can be found on OMIM, a genetic disease catalog.
Research on GISTs has shown that mutations in the SDHB and SDHD genes result in the insufficient supply of oxygen to GIST cells.
SDHB and SDHD mutations are found in young people with GISTs.
A rare pattern of pulmonary GISTs has been associated with SDH mutations.

References

Carney JA, SDHA and SDHB Gastrointestinal Stromal Tumors (GISTs) – GeneReviews® – NCBI Bookshelf
Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577-80.
Joensuu H, Vehtari A, Riihimaki J, et al. Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts. Lancet Oncol. 2012;13(3):265-274.
OMIM Entry – #606864 – GASTROINTESTINAL STROMAL TUMORS; GIST
Chuan-Hao Kuo. Succinate Dehydrogenase Deficiency and Gastrointestinal Stromal Tumor (GISTs) – GeneReviews® – NCBI Bookshelf
Gist Support International – Research, Advocacy, Support, Education, and Resources for people with GIST – Home
Blay JY, Casali P, Dei Tos AP, et al. Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2010;21 Suppl 5:v98-102.
Debiec-Rychter M, Sciot R, Le Cesne A, et al. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer. 2006;42(8):1093-1103.
ClinicalTrials.gov – A service of the U.S. National Institutes of Health – Gastrointestinal Stromal Tumors
Pauciulo P, Pastorekova S, Pastorek J, Giacomini CP, Sanchez M, Burrows M, Zwieb C, Opavsky R, Murray R, Sly WS. Isolation and Expression of the Ecto-ATPase ATP6E/PRK-6 from Activated Murine Lymphocytes and Alveolar Macrophages. J Biol Chem. 2000;275(3):1741-1750.

Frequency

Causes

Learn more about the genes associated with Gastrointestinal stromal tumor

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

What is noncoding DNA

Autosomal recessive congenital methemoglobinemia

PABPN1 gene

Frequency

Causes

Learn more about the genes associated with Gastrointestinal stromal tumor

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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