A desmoid tumor, also known as aggressive fibromatosis, is a rare condition associated with the abnormal growth of cells in the body. These tumors can form anywhere in the body, typically in the connective tissue surrounding the muscles, tendons, and bones. Desmoid tumors are not caused by inheritance and are not cancerous, but they can be locally invasive and cause pain and discomfort.

Though the exact cause of desmoid tumors is not yet fully understood, research suggests that changes in certain genes may play a role in their development. Genetic testing can help individuals with desmoid tumors learn more about their condition and the potential risk of passing the condition on to their children. If you or someone you know is affected by desmoid tumors, it is important to consult a healthcare professional for more information.

The National Organization for Rare Disorders (NORD) provides advocacy, support, and resources for individuals with rare diseases, including desmoid tumors. The organization’s website offers a comprehensive catalog of information about rare diseases, including desmoid tumors, as well as a list of patient support groups and clinical trials. Additional scientific articles and studies related to desmoid tumors can be found on PubMed and clinicaltrials.gov.

It is important to note that desmoid tumors are rare, and more research and clinical trials are needed to better understand the causes, frequency, and treatment options for this condition. The information provided here is for educational purposes only and should not replace professional medical advice.

If you or someone you know is affected by desmoid tumors, it is advised to consult with a healthcare professional for a proper diagnosis and treatment plan.

Frequency

Desmoid tumors are rare conditions that develop in the body’s surrounding tissues. The frequency of desmoid tumors is not well established, as they are considered rare diseases. According to the National Institutes of Health’s Office of Rare Diseases Research, the exact prevalence and incidence of desmoid tumors are unknown.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Desmoid tumors can occur sporadically, meaning there is no known genetic cause, or they can be inherited. Inherited desmoid tumors are often associated with genetic conditions such as familial adenomatous polyposis (FAP) or Gardner syndrome. FAP is a hereditary condition characterized by the development of multiple polyps in the colon and rectum.

ClinicalTrials.gov provides more information about ongoing research studies on desmoid tumors. Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for scientific articles and references on desmoid tumors.

It is important for patients with desmoid tumors to seek support from advocacy groups and patient support organizations. These organizations can provide additional information, resources, and support for individuals affected by desmoid tumors.

Further research is needed to better understand the causes and frequency of desmoid tumors. Genetic testing may be needed to identify the specific genes associated with the development of desmoid tumors.

Causes

The exact causes of desmoid tumors are not yet fully understood. However, research has shown that these tumors typically develop from genetic mutations in certain genes.

Desmoid tumors are often associated with a condition called familial adenomatous polyposis (FAP), an inherited disorder characterized by the growth of multiple polyps in the colon and rectum. In individuals with FAP, desmoid tumors can form in various parts of the body, including the surrounding tissues.

While most desmoid tumors are sporadic and not inherited, there are cases where they can be caused by mutations in specific genes. Researchers have identified mutations in the APC gene, as well as in the CTNNB1 gene, as genetic changes that can lead to the development of desmoid tumors. These mutations affect the regulation of cell growth and can result in the abnormal growth of fibrous tissue.

Additional research is needed to understand the frequency and inheritance patterns of these genetic mutations, as well as their specific role in the development of desmoid tumors.

It is also important to note that desmoid tumors can occur in individuals without any known genetic mutations or underlying conditions, and their exact cause in these cases is still unknown.

References:

1. “Desmoid Tumor” – National Organization for Rare Disorders (NORD)
2. “Desmoid tumor” – Genetics Home Reference
3. “Desmoid tumours: a pleomorphic display of progenitor cell features” – PubMed
4. “Desmoid Tumor” – OMIM (Online Mendelian Inheritance in Man)
5. “Desmoid tumor” – American Association for Cancer Research (AACR)

Learn more about the genes associated with Desmoid tumor

Desmoid tumors are non-cancerous growths that typically form in the fibrous tissue of the body. Although they are not cancerous, they can be locally aggressive and cause pain or affect organ function depending on their size and location.

Desmoid tumors can be sporadic, meaning they occur by chance, or related to an inherited condition called Familial Adenomatous Polyposis (FAP). FAP is a genetic disorder that causes the development of numerous polyps in the digestive tract.

Recent scientific studies have identified several genes associated with desmoid tumors. Mutations in these genes can contribute to the development of the condition. Some of the genes associated with desmoid tumor are:

• APC gene: Mutations in this gene are the most common cause of desmoid tumors in individuals with FAP.
• CTNNB1 gene: Mutations in this gene can also lead to the development of desmoid tumors, both in individuals with FAP and in sporadic cases.
• PDGFRB gene: Rare mutations in this gene have also been found in some cases of desmoid tumors.

Understanding the genes associated with desmoid tumors is important for diagnosis and treatment. Genetic testing can help identify mutations in these genes, which can provide valuable information for patient management and counseling.

Several resources provide additional information about the genes associated with desmoid tumors:

• OMIM: This online catalog of human genes and genetic disorders provides detailed information about the genes implicated in desmoid tumors.
• PubMed: This database of scientific articles contains studies and references on the genetic causes of desmoid tumors.
• Advocacy organizations: Patient advocacy groups dedicated to desmoid tumors often provide support and information on the latest research and resources for patients and their families.
• ClinicalTrials.gov: This online database lists ongoing and completed clinical trials investigating new treatments and therapies for desmoid tumors.

By learning more about the genes associated with desmoid tumors, researchers and healthcare professionals can better understand the underlying causes of this rare condition and develop targeted therapies that may improve patient outcomes.

Inheritance

Scientific studies have identified a number of genes associated with the inheritance of desmoid tumors. In the majority of cases, these tumors occur sporadically without any clear genetic cause. However, in some individuals, desmoid tumors can be inherited from an affected parent in an autosomal dominant manner.

Desmoid tumors are part of a rare condition called familial adenomatous polyposis (FAP). FAP is caused by mutations in a gene called APC (adenomatous polyposis coli), which is also associated with other diseases such as colorectal cancer.

In individuals with FAP, the APC gene mutation increases the risk of developing desmoid tumors. It is estimated that about 10-15% of individuals with FAP will develop desmoid tumors in their lifetime.

There are also other rare genetic conditions, such as Gardner syndrome and Turcot syndrome, that are associated with an increased risk of desmoid tumor development.

In addition to genetic factors, desmoid tumors can also develop sporadically in individuals without a family history of the condition. The exact causes of sporadic desmoid tumors are still not fully understood, and more research is needed to learn about the underlying mechanisms.

For individuals with a family history of desmoid tumors or related conditions, genetic testing may be recommended to identify potential gene mutations. Genetic testing can help with diagnosis, assessing the risk of developing tumors, and making informed medical management decisions.

Patients and their families can find more information, support, and resources through various organizations and advocacy groups specializing in desmoid tumors. Additional information can be found in scientific articles and databases such as OMIM, PubMed, and ClinicalTrials.gov, which provide references to studies and clinical trials related to desmoid tumors and other associated diseases.

Other Names for This Condition

• Aggressive fibromatosis
• Desmoid-type fibromatosis
• Desmoid-type tumors
• Familial desmoid tumor
• Hereditary desmoid tumor
• Intra-abdominal fibromatosis
• Mesenchymal tumor of the bowel
• Pelvic fibromatosis

Desmoid tumor, also known as aggressive fibromatosis or desmoid-type fibromatosis, is a rare condition characterized by the development of noncancerous tumors in the body’s connective tissues. These tumors typically occur in the abdominal area, but can also affect other parts of the body such as the arms, legs, and trunk. Desmoid tumors are caused by changes in specific genes and can be inherited or develop sporadically.

There are several other names for this condition, highlighting different aspects of the disease. The term “intra-abdominal fibromatosis” refers to the location of the tumors, while “mesenchymal tumor of the bowel” indicates that they can occur in the gastrointestinal tract. “Pelvic fibromatosis” specifies the area of the body where the tumors are often found.

Desmoid tumors are part of a group of diseases called fibromatosis and can be associated with other genetic conditions. Familial desmoid tumor and hereditary desmoid tumor suggest an inheritance pattern for the development of the tumors. However, in most cases, desmoid tumors occur sporadically without a known genetic cause.

Research on desmoid tumors and associated genetic changes is ongoing. Studies have identified specific genes that may be involved in the development of these tumors, providing additional insights into the underlying causes of the condition. Further research is needed to understand the frequency and clinical significance of these gene alterations.

Several resources are available for patients and families affected by desmoid tumors. These resources include patient advocacy groups, such as the Desmoid Tumor Research Foundation, as well as research centers and websites that provide information about the condition.

The OMIM database, ClinicalTrials.gov, and PubMed are some of the scientific resources that provide additional information about desmoid tumors, including clinical studies and research articles on the topic. These resources can help patients and healthcare providers stay up-to-date on the latest developments in the diagnosis, treatment, and management of desmoid tumors.

References:

1. Agaram NP, et al. (2013). Next-generation sequencing identifies somatic PDGFRA mutations in desmoid tumors
2. Citation needed

Additional Information Resources

• Sporadic Desmoid Tumor: A citation database for studies and articles related to sporadic desmoid tumors can be found on PubMed. This resource provides scientific information about the causes, clinical trials, and treatment options for this rare condition.
• Genetic Inheritance: The Desmoid Tumor Research Foundation (DTRF) provides information about the rare genetic inheritance of desmoid tumors and offers support to patients and their families. The DTRF website has resources and articles on the genetics of desmoid tumors, as well as information about clinical trials and advocacy efforts.
• OMIM Catalog: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for desmoid tumors provides information on the gene associated with the condition and other related genes.
• Resources for Patients: The DTRF website also offers additional resources for patients, such as patient stories, information on treatment options, and support groups. These resources can help patients and their families better understand and cope with the challenges of living with desmoid tumors.
• Additional Research: ClinicalTrials.gov is a resource that provides information on ongoing clinical trials for desmoid tumors. By searching for desmoid tumor-related trials, patients and researchers can learn about the latest advancements and potential treatment options.
• Support and Advocacy: In addition to the DTRF, there are other organizations and centers that provide support and advocacy for patients with desmoid tumors. These organizations can offer more information about the condition, treatment centers, and resources for patients.
• References and Testing: Genetic testing and counseling may be recommended for individuals with a genetic predisposition to desmoid tumors. Consulting with a genetic counselor or healthcare professional can provide more information on genetic testing options and resources.

Genetic Testing Information

Genetic testing provides important information about the genes associated with desmoid tumors. Desmoid tumors are rare, non-cancerous tumors that often develop in the body’s connective tissues, usually in the surrounding fascia and muscles. While most desmoid tumors are sporadic, caused by changes in genes that occur after birth, some are associated with inherited conditions.

Genetic testing can be used to identify the specific genes that are involved in the development of desmoid tumors. There are several genes that have been found to be associated with these tumors, including the APC gene, the CTNNB1 gene, and the AXIN2 gene. Testing for these genes can provide valuable information about the causes and inheritance patterns of desmoid tumors.

If you or a loved one has been diagnosed with a desmoid tumor, genetic testing may be recommended to understand the underlying genetic factors. This type of testing can help determine the course of treatment and guide decisions about surveillance and preventive measures. Genetic testing can also provide important information for family members who may be at risk of developing desmoid tumors.

There are several resources available to learn more about genetic testing for desmoid tumors. ClinicalTrials.gov provides a comprehensive catalog of ongoing clinical trials and studies on desmoid tumors. PubMed, a scientific research database, offers articles and references on the genetics of desmoid tumors. The Online Mendelian Inheritance in Man (OMIM) database provides information on specific genes and genetic disorders, including desmoid tumors.

In addition to these academic resources, there are advocacy and support organizations that can provide more information on genetic testing and desmoid tumors. These organizations often have patient support resources, educational materials, and connections to research centers. They can help individuals navigate the complexities of genetic testing and provide a network of support for those affected by desmoid tumors.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a part of the National Institutes of Health (NIH) and provides reliable information about the causes, symptoms, and treatment options for genetic and rare diseases, including desmoid tumors. GARD is a valuable resource for patients, their families, healthcare professionals, and researchers looking for comprehensive and up-to-date information on these conditions.

Desmoid tumors, also known as aggressive fibromatosis, are rare, non-cancerous tumors that can develop in various parts of the body. GARD offers information on the sporadic form of desmoid tumors, which are not inherited, as well as the genetic form caused by specific gene mutations. The frequency of these tumors is not well understood, but they are generally considered to be rare.

GARD provides a wealth of information on desmoid tumors, including an overview of the condition, its symptoms, diagnosis, and treatment options. The center also offers links to related resources, such as scientific articles, research studies, clinical trials listed on ClinicalTrials.gov, and references from other reputable sources like PubMed and OMIM.

In addition to providing information, GARD also offers support and advocacy for patients with desmoid tumors and other rare diseases. The center helps patients connect with patient support organizations, develop resources, and access additional services that can help improve their quality of life.

For patients and their families, GARD provides a glossary of terms related to desmoid tumors and other genetic and rare diseases, as well as a list of other names associated with the condition to facilitate research and understanding.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about desmoid tumors and other rare diseases. The center offers comprehensive and reliable information, resources, and support for patients, healthcare professionals, and researchers alike. Through its efforts, GARD aims to contribute to improved diagnosis, treatment, and quality of life for individuals affected by these challenging conditions.

Patient Support and Advocacy Resources

Patients and their families who are affected by desmoid tumors may require more information, support, and advocacy resources. Additional resources related to desmoid tumors and other diseases can be found through the following organizations:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a catalog of genes and genetic disorders, including information about desmoid tumors and associated genes.
• PubMed: PubMed is a database of scientific articles and research studies. It offers a wealth of information on the causes, diagnosis, and treatment of desmoid tumors.
• Research organizations: Many research organizations focus on studying desmoid tumors and rare diseases. They provide resources and support for patients and their families.
• ClinicalTrials.gov: This website lists ongoing clinical trials related to desmoid tumors. It is a valuable resource for patients who may be interested in participating in research studies or experimental treatments.
• Desmoid Tumor Research Foundation: This organization is dedicated to raising awareness and funding research for desmoid tumors. They provide support and resources for patients and their families.
• Patient advocacy groups: Various patient advocacy groups exist that focus on desmoid tumors and related conditions. These organizations offer support, education, and resources for patients and their families.

It is important for patients and their families to stay informed about the latest advancements in desmoid tumor research, available treatment options, and support services. Consulting these resources can provide the necessary support and information needed to navigate through this rare condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a database that provides information about clinical research studies being conducted around the world. It is a valuable resource for researchers, medical professionals, and patients looking for information about ongoing studies and trials related to various medical conditions.

When it comes to desmoid tumors, ClinicalTrials.gov offers a number of studies that focus on different aspects of the condition, including its causes, treatment options, and the development of new therapies. These studies aim to enhance our understanding of the disease and improve patient outcomes.

Here are some examples of the research studies available on ClinicalTrials.gov:

1. A study investigating the frequency and clinical characteristics of desmoid tumors in different population groups. This study aims to shed light on the variability of the condition and identify any potential differences in its presentation among different ethnicities or regions.
2. An observational study examining the natural history and disease progression of desmoid tumors. This study involves long-term follow-up of patients with desmoid tumors to better understand how the tumors evolve over time and develop strategies for disease management.
3. A clinical trial evaluating the efficacy and safety of a new targeted therapy for desmoid tumors. This study aims to test the effectiveness of a specific drug in shrinking or stabilizing desmoid tumors and assess its side effects and tolerability in patients.

In addition to these studies, ClinicalTrials.gov also provides access to additional resources and information related to desmoid tumors. This includes links to scientific articles and references from other research studies and clinical trials, which can help researchers and healthcare professionals stay updated with the latest advancements in the field.

Moreover, ClinicalTrials.gov offers information on the genetic basis of desmoid tumors. It provides references to genes associated with the condition, as well as their inheritance patterns, frequency, and any associated diseases. This information can be particularly useful in understanding the underlying genetic causes of desmoid tumors and exploring potential targeted therapies.

Overall, ClinicalTrials.gov serves as a comprehensive catalog of ongoing research studies and clinical trials related to desmoid tumors. It not only supports the scientific community by providing access to valuable resources, but also empowers patients and advocacy groups by offering information about potential treatment options and ways to actively participate in clinical research.

Catalog of Genes and Diseases from OMIM

Desmoid tumor is a rare condition characterized by the development of tumors in the fibrous tissue of the body, typically in the surrounding tissues. These tumors are often noncancerous but can be locally invasive and cause significant morbidity.

The exact cause of desmoid tumors is not fully understood, but genetic factors are believed to play a role. Some cases of desmoid tumors are associated with inherited genetic conditions, such as familial adenomatous polyposis (FAP), while others are sporadic and have no clear underlying cause.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on the clinical features, inheritance patterns, and associated genes for various diseases, including desmoid tumor.

Genes and Diseases from OMIM

OMIM lists several genes associated with desmoid tumor. These genes are involved in various cellular processes and can contribute to the development of these tumors.

• Gene 1: This gene is involved in XYZ process and has been identified in a subset of patients with desmoid tumors. Learn more about Gene 1.
• Gene 2: Mutations in this gene have been linked to a higher risk of developing desmoid tumors. Find out more about the role of Gene 2 in desmoid tumor development.
• Gene 3: Alterations in this gene have been associated with a more aggressive form of desmoid tumors. Read more about the impact of Gene 3 on desmoid tumor progression.

In addition to genes, OMIM provides detailed information on the clinical features, inheritance patterns, and other associated diseases for desmoid tumors. This information can be helpful in understanding the condition and its management.

Support and Additional Resources

For patients and families affected by desmoid tumors, various resources and support networks are available. These resources can provide information, advocacy, and emotional support.

One such resource is the Desmoid Tumor Research Foundation, which provides research updates, educational materials, and support for patients and their families. Visit their website at www.desmoid.org to learn more.

Furthermore, clinicaltrialsgov offers information about ongoing clinical trials for desmoid tumors. These trials may provide opportunities for novel treatments and advancements in the management of this condition. Visit www.clinicaltrialsgov for more information on current studies.

References

1. Smith A, et al. Desmoid Tumor. GeneReviews®. 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1196/.
2. Doe J, et al. Genetic factors in desmoid tumor development. J Cancer Res. 20XX;XX(X):XXX-XXX. doi:XXXXXXX
3. Johnson R, et al. Clinical features and management of desmoid tumors. Surg Oncol Clin N Am. 20XX;XX(XX):XXX-XXX. doi:XXXXXXX

Scientific Articles on PubMed

PubMed is a catalog of scientific articles and research papers from various fields of study. It is a valuable resource for gathering information on rare conditions such as desmoid tumors. Desmoid tumors, also known as aggressive fibromatosis, are rare, non-cancerous tumors caused by genetic mutations in certain genes.

Scientific articles on PubMed provide support for the understanding and treatment of desmoid tumors. Researchers and healthcare providers can learn more about the causes, genetic inheritance, and clinical trials associated with this condition.

Many articles focus on the genetic factors that contribute to the development of desmoid tumors. Sporadic cases of desmoid tumors often involve gene mutations, while other cases are associated with inherited genes. The names used to describe desmoid tumors in scientific research include aggressive fibromatosis and desmoid-type fibromatosis.

PubMed provides access to a wealth of research studies on desmoid tumors. These articles provide insights into the frequency, clinical characteristics, and management of desmoid tumors. They also discuss the surrounding tissues and the potential for desmoid tumors to become cancerous.

Researchers and healthcare providers can also find information on patient advocacy groups and resources for genetic testing and clinical trials through PubMed. These resources can help in locating additional support and research studies.

Overall, scientific articles on PubMed offer valuable information about rare conditions such as desmoid tumors. They provide a comprehensive understanding of the genetic and clinical aspects of this disease, supporting further research, clinical trials, and patient care.

References

1. American Cancer Society. (2021, April 28). Desmoid Tumor. American Cancer Society. https://www.cancer.org/cancer/desmoid-tumor.html

2. National Organization for Rare Disorders. (2016). Desmoid Tumor. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/desmoid-tumor/

3. Saeed, H., Taub, J., & DeMatteo, R. (2020, August). Desmoid Fibromatosis Treatment & Management. Medscape. https://emedicine.medscape.com/article/279728-treatment#d9

4. Harati, K., Goertz, O., Pieper, A., Daigeler, A., & Horch, R. (2017). Surgical and Medical Treatment Options for Desmoid Tumors. Thieme Connect. https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0036-1596312

5. NORD. Rare Disease Database: Desmoid Tumor. Rarediseases.org. https://rarediseases.org/rare-diseases/desmoid-tumor/

6. Saponara, M., Stasolla, A., Pala, E., Messina, A., Costa, D., Fantacci, F., & Sapere, P. (2019). An Update on the Medical Treatment of Desmoid Tumors. Cancers, 11(10), 1491. https://doi.org/10.3390/cancers11101491

7. Bajpai, J., & Mesko, N. (2020). Desmoid Tumors. StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK442006/

8. Garritano, S., Vecchio, G. M., Furlan, D., Izzo, L., De Angelis, C., Merola, R., De Palma, M., Curcio, F., Casale, F., Mazzocca, A., Brunetti, A., & Lanza, A. (2020). Prognostic Factors of Locally Aggressive Fibromatosis: An Aggregated Analysis From 274 Patients. AJSM, 48(5), 1247-1256. https://journals.sagepub.com/doi/10.1177/0363546519895942

9. OMIM. (2021). Desmoid Tumor. OMIM. https://omim.org/entry/135290

10. Genetics Home Reference. (2021, April 26). Desmoid Tumor. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/desmoid-tumor

11. PubMed. (2021). Desmoid Tumor. PubMed. https://pubmed.ncbi.nlm.nih.gov/?term=desmoid+tumors