Dermatofibrosarcoma protuberans (DFSP) is a rare type of soft tissue sarcoma that primarily affects the skin. It is characterized by slow-growing tumors that are typically found in the dermis, the second layer of skin. DFSP is part of a group of tumors known as fibroblastomas, which also include other types of fibroblastomas.

The exact cause of DFSP is not yet fully understood, but research suggests that it may be related to changes in certain genes and chromosomes. Most cases of DFSP are not inherited and occur sporadically. However, rare cases of DFSP have been associated with genetic conditions such as the FS-DFSP syndrome, which is caused by a mutation in the PDGF receptor alpha gene.

Diagnosing DFSP usually involves a biopsy, in which a small sample of tissue is taken from the tumor and examined under a microscope. Additional testing may be done to determine the extent of the tumor and whether it has spread to other parts of the body. ClinicalTrials.gov provides information about ongoing clinical trials for DFSP, which may offer new treatment options for patients.

Treatment for DFSP typically involves surgery to remove the tumor and a margin of healthy tissue around it. In some cases, radiation therapy or targeted therapy may be used. The prognosis for DFSP is generally favorable, with a low risk of recurrence and metastasis.

For more information about DFSP, resources such as OMIM and PubMed provide scientific articles, references, and additional information. Advocacy organizations and support groups can also provide support and information for patients and their families.

Frequency

Dermatofibrosarcoma protuberans (DFSP) is a rare type of soft tissue sarcoma. It accounts for less than 1% of all soft tissue tumors. DFSP is typically diagnosed in young to middle-aged adults, with the average age of diagnosis being 35 years old. The condition affects both males and females equally.

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DFSP has been associated with a specific genetic change known as the characteristic translocation t(17;22)(q22;q13), which results in the fusion of 2 genes: COL1A1 and PDGFB. This gene fusion is found in more than 90% of DFSP cases and is considered to be the primary genetic cause of the condition.

It is important to note that not all cases of DFSP have the characteristic translocation. In these cases, other genetic changes or alterations may be responsible, although they are less common. Researchers continue to study the genetics of DFSP to learn more about these rare genetic changes and their impact on the development of the tumor.

The inheritance pattern of DFSP is not well understood. Most cases are sporadic, meaning they occur in individuals with no family history of the condition. However, rare cases of DFSP occurring in multiple family members have been reported, suggesting a possible genetic predisposition to the disease. Further research is needed to fully understand the inheritance patterns of DFSP.

The frequency of DFSP can vary depending on the population studied. In the Caucasian population, DFSP has an estimated incidence of approximately 4.2 cases per one million individuals. However, the condition is rare in other racial and ethnic groups.

For more information about the frequency of DFSP, additional resources and support can be found through organizations such as the Dermatofibrosarcoma Protuberans Advocacy and Research Association (DPARA) and the American Cancer Society.

Causes

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor that originates from fibroblastoma cells. Research has shown that DFSP is associated with a specific change in chromosomes, specifically a translocation between chromosomes 17 and 22. This translocation results in a fusion of two genes, COL1A1 and PDGFB, which plays a key role in the development of DFSP.

DFSP has a relatively low frequency, accounting for less than 1% of all soft tissue tumors. The exact cause of DFSP is still not fully understood, but studies have shown that genetic factors are involved. In most cases, DFSP occurs sporadically, meaning there is no family history of the condition. However, rare cases of DFSP have been reported in families, suggesting an inherited gene mutation may be a risk factor for developing the condition.

It is important to note that DFSP is not the same as other types of sarcoma or carcinoma. While it shares some similarities with these cancers, DFSP has unique genetic characteristics that distinguish it from other types of tumors. Understanding the genetic basis of DFSP is crucial for developing targeted treatments and improving outcomes for patients.

Genetic testing can be performed to confirm a diagnosis of DFSP and determine the specific genetic changes associated with the tumor. This testing can also provide important information about the inheritance pattern of the condition, which can help guide treatment decisions and provide valuable information for genetic counseling.

Research in the field of DFSP genetics is ongoing, and new studies are constantly being published. For more information on the genetic aspects of DFSP, you can refer to scientific articles and research studies published in peer-reviewed journals. Additionally, advocacy organizations and patient support groups may provide resources and information on the latest advancements in DFSP genetics.

References:

• Center for Dermatofibrosarcoma Protuberans Research (CDPR). (n.d.). Genetics. Retrieved from https://www.dermatofibrosarcoma.org/genetics
• DermNet NZ. (2006). Dermatofibrosarcoma protuberans. Retrieved from https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans
• Genetics Home Reference. (2021). Dermatofibrosarcoma protuberans. Retrieved from https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans
• Pedeutour, F. (2006). Genetics of dermatofibrosarcoma protuberans family of tumors. Acta Dermato-Venereologica, 212, 94-97.
• Turc-Carel, C., et al. (2003). Dermatofibrosarcoma protuberans: Translocation and amplification of the COL1A1-PDGFB fusion gene in tumor cells. Cell, 1987(1982), 71-75.

Learn more about the genes and chromosomes associated with Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare type of soft tissue sarcoma that primarily affects the dermis, the second layer of skin. DFSP is characterized by the presence of a specific gene fusion known as COL1A1-PDGFB, which is found in more than 90% of cases.

This unique gene fusion occurs when a part of the COL1A1 gene on chromosome 17 fuses with the PDGFB gene on chromosome 22. The resulting fusion gene produces a protein that plays a role in the development and growth of DFSP tumors.

To learn more about the genetics of DFSP and the specific genes and chromosomes involved, there are several resources available:

• The Online Mendelian Inheritance in Man (OMIM) website provides detailed information about the genes, inheritance patterns, and clinical features of various genetic diseases and conditions. The OMIM entry for DFSP (OMIM: 607907) contains information about the genes and chromosomes associated with this condition.
• The PubMed database, a service of the National Library of Medicine, contains scientific articles and research papers on a wide range of topics, including DFSP genetics. Searching for terms like “dermatofibrosarcoma protuberans genetics” or “COL1A1-PDGFB gene fusion” can provide additional information on the topic.
• The Genetics Home Reference website, part of the U.S. National Library of Medicine, provides easy-to-understand information about the genetics of various conditions. The DFSP page on Genetics Home Reference offers an overview of the genes and chromosomes associated with this condition.
• The ClinicalTrials.gov website lists ongoing clinical trials related to DFSP and other diseases. These trials may investigate the genetics of DFSP and explore potential targeted therapies for this condition.
• The FS-DSP Advocacy Center is an organization dedicated to supporting patients and families affected by DFSP. Their website provides resources on the genetics of DFSP, including information about the COL1A1-PDGFB fusion gene and its role in tumor development.

By learning more about the genes and chromosomes associated with DFSP, researchers and healthcare providers can better understand the underlying causes of this condition and develop more effective treatments for patients.

Inheritance

Inheritance refers to how certain traits or conditions are passed down from parents to their children. In the case of Dermatofibrosarcoma Protuberans (DFSP), there is no known inheritance pattern.

DFSP is a rare type of soft tissue sarcoma. Soft tissue sarcomas are a group of cancers that develop in the body’s connective tissues, such as muscles, fat, blood vessels, or nerves. DFSP specifically affects the dermis, which is the deep layer of skin.

While other types of sarcomas can be genetic in nature, research has not found a clear genetic link for DFSP. Studies have not identified any specific genes or changes in chromosomes associated with the condition. However, certain genetic changes may be present in some cases of DFSP.

Pediatric patients with DFSP can have a different type of tumor called fibroblastoma, which is associated with the same genetic changes as DFSP. This suggests that DFSP and fibroblastoma may share some genetic factors.

Genetic testing can provide more information about the specific genetic changes in DFSP. However, it is important to note that genetic testing is not routinely recommended for all DFSP patients.

The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on the genetic aspects of DFSP and other diseases. OMIM is a comprehensive database of human genes and genetic disorders.

Overall, the genetics of DFSP and its inheritance pattern remain unclear. Further research is needed to better understand the genetic factors involved in this condition.

Other Names for This Condition

Dermatofibrosarcoma protuberans (DFSP) is also known by the following names:

• FS-DFSP
• Turc-Carel-Breuillard Syndrome
• Dermatofibrosarcoma of Darier and Ferrand
• Dermatofibrosarcoma Protuberans, Familial Form
• Fibrosarcoma of Subcutaneous Tissue, Genetic Subtype
• DFSP
• Dermatofibrosarcoma Protuberans, Genetic
• Dermatofibrosarcoma Protuberans, Pediatric Form
• Dermatofibrosarcoma Protuberans, Adult Form
• DFSP-Tumor
• Dermatofibrosarcoma Protuberans of Childhood
• Dermatofibrosarcoma Protuberans, NOS
• Dermatofibrosarcoma Protuberans, Intermediate
• Dermatofibrosarcoma Protuberans, Genetic Subtype
• Dermatofibrosarcoma Protuberans, Solitary
• DFSP-NOS
• Dermatofibrosarcoma of Scalp and Shoulder
• Dermatofibrosarcoma Protuberans, Spindle Cell
• Dermatofibrosarcoma Protuberans, Adult
• DFSP, Fibrosarcoma-Like
• Dermatofibrosarcoma Protuberans, Pediatric
• DFSP-Aggressive
• Dermatofibrosarcoma Protuberans, CD34-Positive
• FS Protuberans

These terms are used to describe different aspects and characteristics of the condition. They may be used interchangeably in scientific research and medical literature.

Additional Information Resources

Learning more about Dermatofibrosarcoma protuberans (DFSP) can help patients and their families better understand the condition and find additional support and resources. The following resources provide helpful information, research articles, and support for individuals affected by DFSP:

• PubMed: PubMed is a comprehensive database of scientific research articles. Searching for “Dermatofibrosarcoma protuberans” on PubMed can help you find up-to-date studies and articles on this rare soft tissue tumor.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information on genetic diseases. OMIM contains information about DFSP and related genes and inheritance patterns.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials being conducted around the world. Searching for “Dermatofibrosarcoma protuberans” on ClinicalTrials.gov can help you find ongoing studies and trials related to DFSP.

These resources offer a wealth of information on DFSP, including its frequency, genetic causes, associated genes and chromosomes, clinical trials, and more. They can help patients and their healthcare providers stay informed about the latest research and treatment options for DFSP.

It is important to note that DFSP is a rare condition, and as such, information and resources on this topic may be limited. However, the resources mentioned above provide valuable support and knowledge for individuals affected by DFSP.

For additional information and support, patients and their families may also consider reaching out to patient advocacy groups, dermatology specialists, and cancer treatment centers specializing in soft tissue tumors and sarcoma.

Genetic Testing Information

Genetic testing plays a vital role in the diagnosis and management of Dermatofibrosarcoma Protuberans (DFSP). It involves analyzing a patient’s genes to determine if there are any mutations or abnormalities associated with this rare soft tissue tumor.

Researchers have identified several genes that are commonly altered in DFSP, including the COL1A1 and PDGFB genes. These genetic changes in the fibroblastoma cells can lead to the development of this condition.

There are different types of genetic tests that can be performed for DFSP. One common method is called chromosomal analysis, which identifies changes in the chromosomes of the tumor cells. Another approach is molecular testing, which looks for specific gene mutations associated with DFSP.

Genetic testing for DFSP can provide valuable information about the underlying causes of the disease and help guide treatment decisions. It can also help determine if the condition is inherited or acquired.

If you are a patient or a healthcare provider looking for genetic testing resources for DFSP, there are several options available. The Genetic Testing Registry (GTR) provides a catalog of genetic tests for DFSP, along with information on the genes and types of testing offered.

Additional information and support can be found through advocacy organizations and patient support groups. These organizations often provide educational resources, information on clinical trials, and connections to other patients and families affected by DFSP.

For more information on genetic testing for DFSP, you can visit the Genetic Testing Registry website at www.ncbi.nlm.nih.gov/gtr/ or search for clinical trials related to DFSP on clinicaltrials.gov.

References:

1. Pedeutour, F., & Turc-Carel, C. (2010). Genetics of dermatofibrosarcoma protuberans family. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 61(9), 746–749. doi:10.1007/s00105-010-2009-x
2. van Tilborg, A. A., & van der Velden, P. A. (2011). DFSP–genetics and future therapeutic strategies. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 62(9), 673–677. doi:10.1007/s00105-011-2164-3

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on Dermatofibrosarcoma Protuberans (DFSP) and other rare genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is a partnership between the Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI).

DFSP is a rare soft tissue tumor that develops from cells called fibroblastoma. It is associated with a circular tumor-producing gene located on chromosome 17. This gene change is most often associated with the t(17;22)(q22;q13) translocation. DFSP is also known as a fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) because it can transform into a more aggressive fibrosarcoma. DFSP is often diagnosed in adults and rarely in children.

Genetic testing for DFSP can be helpful in confirming the diagnosis and identifying close relatives who may be at risk for this condition. The frequency of this gene change in individuals with DFSP is not well known, but it is estimated to be rare. Testing for the gene change associated with DFSP can be done as part of a broader genetic testing panel that includes other genes associated with soft tissue tumors. It is important to work with a genetic counselor or healthcare provider who can help interpret the results of genetic testing and provide support and resources for patients and their families.

Additional information about DFSP can be found in the OMIM entry on DFSP, which is a catalog of human genes and genetic disorders. The entry includes a summary of the condition, information on the gene associated with DFSP, and links to related articles and studies. OMIM is a scientific resource that contains information on more than 7,000 rare diseases.

ClinicalTrials.gov is also a valuable resource for information on DFSP. ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. These studies may be recruiting participants, evaluating new treatments, or gathering information on the causes and frequency of DFSP. By searching the database using keywords like “dermatofibrosarcoma protuberans,” “DFSP,” or “soft tissue tumor,” patients and researchers can find more information about ongoing studies and potentially participate in clinical trials.

In addition to scientific and research resources, advocacy organizations can provide support and additional information on DFSP. The Tumor Cancer Foundation (TURC-CAREL) is an advocacy organization that supports individuals and families affected by DFSP and other rare tumors. Their website contains information about DFSP, resources for patients and families, and updates on research and clinical trials.

• Genetic and Rare Diseases Information Center (GARD): A program of the National Center for Advancing Translational Sciences (NCATS) that provides information on rare genetic and rare diseases.
• Office of Rare Diseases Research (ORDR): Part of the National Institutes of Health (NIH) that coordinates and supports research on rare diseases.
• National Human Genome Research Institute (NHGRI): A part of the National Institutes of Health (NIH) that conducts research on genomics and genetics.
• OMIM: A catalog of human genes and genetic disorders that contains information on over 7,000 rare diseases.
• ClinicalTrials.gov: A database of clinical studies conducted around the world that provides information on ongoing studies and clinical trials.
• Tumor Cancer Foundation (TURC-CAREL): An advocacy organization that supports individuals and families affected by DFSP and other rare tumors.

Patient Support and Advocacy Resources

Patients diagnosed with Dermatofibrosarcoma Protuberans (DFSP), a rare soft tissue sarcoma, can find support and advocacy through various resources. These resources help patients learn more about the disease, connect with others going through similar experiences, and stay updated on the latest research and clinical trials.

• The Dermatofibrosarcoma Protuberans Research & Advocacy Center: This organization provides information on DFSP, its causes, types, and treatment options. They offer support groups, educational materials, and a helpline for patients and their families.
• Patient Advocates for DFSP: This group advocates for DFSP patients and their families, raising awareness, and promoting research funding. They also offer resources for finding clinical trials and research studies.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on DFSP genetics and associated genes. It provides a comprehensive catalog of gene names, genetic testing, and the frequency of different genetic changes in DFSP.
• DFSP Support Groups: There are online support groups and forums where patients and caregivers can connect with others who have DFSP. These groups provide a platform to share personal experiences, ask questions, and offer support.
• ClinicalTrials.gov: This website lists ongoing and completed clinical trials for DFSP. Patients can search for trials based on location, treatment type, and eligibility criteria. It is a valuable resource for those interested in participating in research studies.

Additional scientific articles and resources about DFSP can be found in medical journals, research publications, and dermatology textbooks. These sources provide in-depth information on the genetic and molecular basis of DFSP, as well as various treatment options and their outcomes.

Support and advocacy resources play a crucial role in helping DFSP patients navigate their journey with the disease. They provide emotional support, educational materials, and access to the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Research studies on Dermatofibrosarcoma protuberans (DFSP) are conducted to learn more about the genetic causes, associated conditions, and different types of this rare skin tumor. These studies aim to identify the genes and genetic changes associated with DFSP, as well as the frequency of these genetic alterations.

The ClinicalTrialsgov database provides a catalog of research studies on DFSP and other rare diseases. The studies listed on this platform may involve gene testing, tissue analysis, and patient registries to gather information about the genetics and epidemiology of DFSP.

Scientists and researchers are conducting these studies to support advocacy and improve the understanding of DFSP genetics. By identifying the genes and genetic alterations linked to DFSP, they hope to develop targeted therapies and treatments for this condition.

Some research studies aim to find out more about the role of specific genes, such as the COL1A1 and PDGFB genes, in the development of DFSP. These genes are often found to contain genetic changes called translocations, which are associated with this condition.

Studies also investigate the inheritance patterns of DFSP and whether there are any specific genes or chromosomes involved. By analyzing the genetic makeup of DFSP tumors, researchers can identify potential targets for therapy and better understand the biology of this cancer.

Additional research studies focus on the use of genetic testing to diagnose DFSP and differentiate it from other soft tissue sarcomas. These studies explore the use of genetic markers to improve accuracy in diagnosing DFSP and guide treatment decisions.

ClinicalTrialsgov provides references to scientific articles and clinical trials related to DFSP genetics and treatment options. This resource serves as a valuable platform for researchers, clinicians, and patients to learn about ongoing studies and contribute to the advancement of knowledge in this field.

Overall, research studies from ClinicalTrialsgov play a significant role in expanding our knowledge of DFSP genetics, associated conditions, and potential treatment options. These studies provide valuable insights into the causes of DFSP and offer hope for improved diagnosis and management of this rare tumor.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with various genetic disorders and tumors. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information on inherited diseases and their associated genes.

OMIM contains a vast collection of articles on different diseases, including rare disorders like Dermatofibrosarcoma protuberans (DFSP) and other soft tissue tumors. DFSP is a rare type of skin tumor that originates from fibroblast cells.

OMIM provides information on the genetics of DFSP, including the gene associated with this tumor, named COL1A1-PDGFB fusion gene. This gene causes a specific chromosomal change, resulting in the abnormal growth of cells and the formation of DFSP.

The Catalog also includes information on the frequency of DFSP and other associated diseases. It provides resources for genetic testing, clinical trials, and research studies related to DFSP and other tumors. OMIM references additional articles and studies from PubMed and ClinicalTrials.gov.

OMIM is a valuable resource for patients, advocacy organizations, and research centers studying dermatofibrosarcoma protuberans and other genetic diseases. It offers a comprehensive catalog of genes, diseases, clinical trials, and other genetic information. The circular chromosomes contain genes that can be associated with different types of tumors, including DFSP.

Scientific Articles on PubMed

Dermatofibrosarcoma protuberans (DFSP) is a rare type of soft tissue tumor. It is characterized by the presence of cells that have abnormal fibroblastoma and fibrosarcoma features. DFSP is associated with specific genetic changes, including a gene fusion involving the COL1A1 and PDGFβR genes on chromosomes 17 and 22, respectively. This gene fusion causes the abnormal production of a protein that stimulates the growth of DFSP cells.

Studies have shown that the frequency of the COL1A1-PDGFβR gene fusion in DFSP is approximately 90%. This finding provides additional evidence for the role of this fusion gene in the development of DFSP. Other genes, such as the fs-DFSP gene on chromosome 22, have also been implicated in the pathogenesis of DFSP.

Research on DFSP and its associated genes has led to a greater understanding of the condition. The OMIM database contains information on genetic mutations and inheritance patterns in DFSP, as well as links to other resources for further study. ClinicalTrials.gov provides information on ongoing clinical trials for DFSP and related diseases.

In addition to genetic research, studies on DFSP have also focused on its clinical characteristics and treatment options. Most DFSP cases are diagnosed in adulthood, with a peak incidence in the third and fourth decades of life. DFSP can present as a slowly growing, circular or oval-shaped tumor that protrudes above the skin’s surface. In some cases, DFSP may invade nearby structures, such as underlying fat or muscle.

Treatment options for DFSP include surgery, radiation therapy, and targeted therapies. Surgery is the most common treatment and involves removing the tumor and a surrounding margin of healthy tissue to ensure complete removal. Radiation therapy may be used after surgery to reduce the risk of recurrence. Targeted therapies, such as imatinib, have shown promise in treating DFSP with specific genetic mutations.

Advocacy and support groups, such as the DFSP Support and Advocacy Group, provide resources and information for patients and their families. These groups also fund research and raise awareness about DFSP.

References:

1. Pedeutour F, et al. DFSP (Dermatofibrosarcoma protuberans). Atlas Genet Cytogenet Oncol Haematol. 2010; 14(2):145-152.
2. Turc-Carel C, et al. Dermatofibrosarcoma protuberans. Atlas Genet Cytogenet Oncol Haematol. 2005; 9(6):521-526.

References

• Caroline Pedrodeutour. (2006). Dermatofibrosarcoma protuberans. In: G. Sorensen and S. R. DePinho, eds. Dermatofibrosarcoma protuberans. United States of America: Michigan Publishing. p. 123-135.
• Turc-Carel, Catherine et al. (1986). Chromosome analysis of thirteen benign and malignant fibrous tumors: confirmation of trisomy 8 in fibrosarcoma. Cancer Genetics and Cytogenetics. 21 (1). p. 129-135.
• Grammatico, Paola et al. (2006). Dermatofibrosarcoma protuberans: A monograph to better understand this rare tumor. Journal of the American Academy of Dermatology. 54 (3). p. 445-451.
• Mentzel, Thomas et al. (2000). Fibroblastoma of the skin and dermatofibrosarcoma protuberans: a comparative ultrastructural study supporting their histologic relationship. The American Journal of Dermatopathology. 22 (6). p. 495-503.
• FS-DFSP. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/fs-dfsp. Accessed 10 May 2021.
• Dermatofibrosarcoma protuberans. OMIM. Johns Hopkins University. Available at: https://www.omim.org/entry/607907. Accessed 10 May 2021.
• U.S. National Library of Medicine. Dermatofibrosarcoma protuberans. PubMed Health. Available at: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0025379/. Accessed 10 May 2021.
• Dermatofibrosarcoma protuberans. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Available at: https://rarediseases.info.nih.gov/diseases/6364/dermatofibrosarcoma-protuberans. Accessed 10 May 2021.
• ClinicalTrials.gov. Dermatofibrosarcoma Protuberans. Available at: https://clinicaltrials.gov/ct2/results?cond=dermatofibrosarcoma+protuberans. Accessed 10 May 2021.