8p11 myeloproliferative syndrome, also known as 8p11 syndrome or stem cell leukemia/lymphoma syndrome, is a rare genetic condition associated with the development of certain cancerous diseases. It is caused by a mutation on chromosome 8p11 that affects stem cells, which are responsible for producing blood cells.
This condition is more commonly found in adults, although it can also develop in children. The most common types of cancer associated with 8p11 myeloproliferative syndrome include leukemia and lymphoma. In some cases, the condition may also cause abnormalities in other organs or systems of the body.
Scientists have identified several genes that are affected by the 8p11 mutation, including the MOZ gene and the MLLT10 gene. These genes play important roles in the regulation of cell growth and division. Individuals with 8p11 myeloproliferative syndrome may have different manifestations of the condition depending on which genes are affected.
Diagnosing 8p11 myeloproliferative syndrome can be challenging, as it shares similarities with other rare blood disorders. Genetic testing is often necessary to confirm the diagnosis. Additional testing, such as a bone marrow biopsy or lymph node biopsy, may be performed to further evaluate the extent of the disease.
There is currently no cure for 8p11 myeloproliferative syndrome, but treatment can help manage the symptoms and improve quality of life. Options may include chemotherapy, targeted therapy, and stem cell transplantation. The prognosis for individuals with 8p11 myeloproliferative syndrome varies depending on the specific genetic abnormalities and the extent of the disease.
More information about 8p11 myeloproliferative syndrome can be found in scientific articles and references, such as PubMed and OMIM. Support and advocacy organizations can also provide additional resources and information for affected individuals and their families.
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Frequency
8p11 myeloproliferative syndrome is considered a rare condition, also known as “8p11 syndrome” or “stem cell leukemia/lymphoma syndrome”.
It is called “8p11 syndrome” because it is a genetic disorder caused by abnormalities on chromosome 8 at band p11.2. Specifically, translocations involving the genes FGFR1, ZMYM2, BCR, and other genes on chromosome 8 have been found in patients with this syndrome.
This condition is associated with the development of cancerous myeloproliferative diseases, which affect the production of blood cells and can lead to the overgrowth of certain cell types. The most common form of myeloproliferative disease seen in 8p11 syndrome is stem cell leukemia/lymphoma.
The frequency of 8p11 myeloproliferative syndrome is not well-established due to its rarity. However, it is believed to be more common in adults than in children. Scientific articles about this condition can be found on PubMed, OMIM, and other scientific resources. Additional information and support can be obtained from advocacy organizations and patient support groups.
Testing for genetic mutations and chromosomal translocations associated with 8p11 myeloproliferative syndrome can be done to confirm the diagnosis in affected individuals. However, it should be noted that these genetic changes may not be present in all patients with the syndrome.
It is important for individuals with symptoms or a family history of rare myeloproliferative diseases to seek proper medical evaluation and genetic testing, if necessary, to learn more about the potential causes and inheritance patterns of these conditions.
8p11 myeloproliferative syndrome has been found to be associated with other genetic conditions and chromosomal abnormalities. For example, central nervous system lymphoma and lymph node involvement have been reported in some cases. Further research and scientific discoveries are needed to better understand the frequency, causes, and effects of this syndrome.
Causes
The main cause of 8p11 myeloproliferative syndrome is the presence of genetic mutations. These mutations affect the chromosomes of the patient’s cells, leading to the development of cancerous conditions such as lymphoma and myeloproliferative disorders. The specific genes and chromosomes associated with this rare condition are still being researched, but several translocations have been found in affected individuals.
One of the known genetic mutations associated with 8p11 myeloproliferative syndrome is called the FGFR1 gene mutation. When this mutation occurs, it can lead to the overgrowth of certain cells in the bone marrow, resulting in the development of myeloproliferative disorders.
The inheritance pattern of this condition is not yet well understood. It is believed to be caused by a combination of genetic and environmental factors, but more research is needed to fully understand the inheritance pattern.
Testing for genetic mutations associated with 8p11 myeloproliferative syndrome can be done through scientific and clinical testing. These tests can help identify specific genes and chromosomal abnormalities that are associated with the condition.
For more information on the causes of 8p11 myeloproliferative syndrome, you can refer to the scientific articles and references listed below. These resources provide additional information and support for patients and advocacy groups.
- Pubmed – A catalog of scientific articles on 8p11 myeloproliferative syndrome and related diseases
- OMIM – Online Mendelian Inheritance in Man database with information on genetic disorders
- Advocacy groups and support resources – Organizations that provide information, support, and resources for patients and families affected by 8p11 myeloproliferative syndrome
Learn more about the genes and chromosomes associated with 8p11 myeloproliferative syndrome
8p11 myeloproliferative syndrome, also known as stem cell leukemia/lymphoma syndrome, is a rare condition characterized by the abnormal proliferation of myeloid cells in the bone marrow. It is associated with specific genetic abnormalities involving genes and chromosomes.
The central genetic abnormality in 8p11 myeloproliferative syndrome is a genetic mutation involving the fusion of two genes on chromosome 8, resulting in the creation of a cancer-causing fusion gene. This fusion gene plays a critical role in the development of the disease.
References to the genetic causes of 8p11 myeloproliferative syndrome can be found in scientific articles, medical literature, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information about the genes and chromosomes associated with the condition.
One of the most well-known fusion genes associated with 8p11 myeloproliferative syndrome is the PCM1-JAK2 fusion gene. This fusion gene is formed as a result of a t(8;9)(p22;p24) chromosomal translocation. It is found in a subset of patients with 8p11 myeloproliferative syndrome and is associated with a particularly aggressive form of the disease.
Testing for genetic abnormalities, such as the presence of fusion genes or chromosomal translocations, can help confirm a diagnosis of 8p11 myeloproliferative syndrome. This testing can be done using various molecular techniques, including fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR).
Learning more about the genes and chromosomes associated with 8p11 myeloproliferative syndrome can provide valuable insights into the underlying causes of the disease. It can also help guide treatment decisions and facilitate genetic counseling for affected individuals and their families.
Support and advocacy organizations focused on myeloproliferative diseases can provide additional resources and information about 8p11 myeloproliferative syndrome. These organizations may offer support groups, educational materials, and research updates to patients and their caregivers.
In conclusion, 8p11 myeloproliferative syndrome is a rare condition associated with specific genetic abnormalities involving genes and chromosomes. Understanding the genetic basis of the disease, along with available testing methods, can contribute to improved diagnosis and management of affected individuals.
Inheritance
The 8p11 myeloproliferative syndrome is a rare condition that can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the syndrome on to each of their children.
Additional research is needed to understand the specific genetic causes of this syndrome. However, it has been associated with specific genetic translocations involving the 8p11 region, resulting in the fusion of various genes. These gene fusions can lead to the abnormal production of certain proteins, causing the overgrowth of myeloid cells in the bone marrow.
It is important to note that most cases of the 8p11 myeloproliferative syndrome are not inherited and occur sporadically in individuals with no family history of the condition. These cases are thought to arise from somatic mutations, which occur in the patient’s lifetime and are not passed on to future generations.
To learn more about the genetic causes and inheritance of the 8p11 myeloproliferative syndrome, genetic testing and counseling may be recommended. These tests can help determine if there are any specific genetic mutations or translocations associated with the syndrome in a particular patient.
For more information on the genetic causes and inheritance of the 8p11 myeloproliferative syndrome, the OMIM catalog (Online Mendelian Inheritance in Man) and scientific articles available on PubMed can be valuable resources.
Support and advocacy organizations for rare diseases, such as myeloproliferative syndromes, can also provide additional information and resources for affected individuals and their families.
Other Names for This Condition
8p11 myeloproliferative syndrome is a rare condition that is also known by several other names. These names include:
- 8p11 myeloproliferative neoplasms
- 8p11 syndrome
- Stem cell leukemia/lymphoma syndrome
- Stem cell leukemia/lymphoma syndrome with eosinophilia
- Stem cell leukemia/lymphoma syndrome with t(8;13)(p11;q12)
- Stem cell leukemia/lymphoma syndrome with t(8;17)(p11;q23)
These names refer to the different manifestations of the condition that are associated with specific genetic mutations or translocations involving the 8p11 region of chromosomes.
Patients affected by 8p11 myeloproliferative syndrome may develop cancerous cells in the bone marrow, lymph nodes, or other organs. The condition is associated with specific genetic mutations or translocations involving genes called FGFR1, ZNF198, and others. Additional information about the genes associated with this condition can be found in scientific articles and resources such as the OMIM catalog and PubMed.
Testing for genetic mutations or translocations is often necessary for a definitive diagnosis of 8p11 myeloproliferative syndrome. Centralized testing centers and genetic testing services provide information about the frequency of these mutations and resources for learning more about the condition.
Advocacy groups and patient resources can provide additional information about the causes, inheritance patterns, and treatment options for 8p11 myeloproliferative syndrome. References to scientific articles and other sources of information can be found in the resources section of these organizations’ websites.
Additional Information Resources
Here is some additional information and resources about 8p11 myeloproliferative syndrome:
Scientific Articles
- You can learn more about 8p11 myeloproliferative syndrome and its associated genes, such as FGFR1 and ZNF198-FGFR1, from scientific articles available on PubMed.
- There are also articles on other genetic abnormalities and translocations found in this condition.
Patient Advocacy Groups and Support
- For more information and support, you can contact patient advocacy groups that focus on myeloproliferative syndromes and related conditions.
- These groups can provide resources, support, and information about the latest research and treatment options.
Genetic Testing and Inheritance
- Genetic testing can help identify the specific genetic mutation associated with 8p11 myeloproliferative syndrome.
- It can also determine if other family members may be affected or at risk.
- Understanding the inheritance pattern of this condition can help with genetic counseling and family planning.
OMIM and Genetic Catalogs
- The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes, inheritance patterns, and associated diseases.
- Genetic catalogs and databases can also offer valuable resources for learning more about 8p11 myeloproliferative syndrome and related conditions.
References:
- Reference 1
- Reference 2
- Reference 3
Additional Resources:
| Resource | Description |
| Resource 1 | Description 1 |
| Resource 2 | Description 2 |
| Resource 3 | Description 3 |
Genetic Testing Information
Genetic testing is an essential tool for diagnosing and understanding the 8p11 myeloproliferative syndrome. This disorder is characterized by various translocations involving the 8p11 region of the chromosomes. These translocations lead to the fusion of specific genes, resulting in the development of cancerous cells.
The frequency of 8p11 myeloproliferative syndrome is rare, but it is associated with a high risk of developing other diseases, such as lymphoma. Genetic testing can provide valuable information about the specific translocation and associated genes involved in this condition.
The 8p11 myeloproliferative syndrome is also called stem cell leukemia/lymphoma syndrome and is closely related to a similar condition known as 8p11 syndrome. These terms are used interchangeably to refer to the same disorder.
Genetic testing for the 8p11 myeloproliferative syndrome can be performed using various techniques. These include fluorescence in situ hybridization (FISH), karyotyping, and molecular genetic testing. FISH is a common method used to detect specific chromosomal rearrangements, while molecular genetic testing can identify gene mutations associated with this syndrome.
The inheritance pattern of the 8p11 myeloproliferative syndrome is not well understood. However, some cases have been found to be inherited in an autosomal dominant manner, meaning that a mutation in one copy of the associated genes is sufficient to cause the condition. Further research is necessary to fully understand the genetic causes and inheritance patterns of this syndrome.
For more information about genetic testing and the 8p11 myeloproliferative syndrome, you can refer to the following resources:
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OMIM (Online Mendelian Inheritance in Man): A comprehensive database with information about genetic diseases and associated genes. The OMIM entry for the 8p11 myeloproliferative syndrome includes references to scientific articles and other relevant resources.
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PubMed: A database of scientific articles and research papers. Searching for “8p11 myeloproliferative syndrome” or related terms can provide additional research and information on this condition.
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Advocacy and support groups: Organizations dedicated to providing resources and support for individuals affected by the 8p11 myeloproliferative syndrome may offer information on genetic testing and counseling services.
In conclusion, genetic testing plays a crucial role in the diagnosis and understanding of the 8p11 myeloproliferative syndrome. By identifying specific translocations and associated genes, testing can provide valuable information for patient management and counseling. It is essential to consult with healthcare professionals and genetic counselors to learn more about the benefits and limitations of genetic testing for this condition.
Patient Support and Advocacy Resources
Patients affected by 8p11 myeloproliferative syndrome and other myeloproliferative diseases can find support and advocacy resources to help them navigate this rare condition.
Here are some patient support and advocacy resources:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with 8p11 myeloproliferative syndrome and other related conditions.
- PubMed – PubMed is a database of scientific articles and references. Patients can find articles and references about 8p11 myeloproliferative syndrome and learn more about the condition.
- Testing and Genetic Counseling – Genetic testing can help identify the specific gene mutation that causes 8p11 myeloproliferative syndrome. Patients can seek genetic counseling to understand the inheritance pattern and the implications of the condition for themselves and their families.
- Support Groups – Support groups can provide patients with a community of individuals who understand the challenges of living with 8p11 myeloproliferative syndrome. These groups may offer emotional support, information sharing, and practical advice.
- Additional Resources – There are various additional resources available online and offline that provide information and support for patients with 8p11 myeloproliferative syndrome. These resources may include websites, books, educational materials, and events.
By accessing these resources, patients can gain a deeper understanding of their condition and connect with others who are facing similar challenges.
Catalog of Genes and Diseases from OMIM
- The myeloproliferative syndrome, also known as 8p11 myeloproliferative syndrome, is a rare genetic disorder associated with the development of cancerous cells in the bone marrow.
- Additional names for this syndrome include stem cell leukemia/lymphoma syndrome and myeloproliferative neoplasm.
- This syndrome is caused by a genetic mutation on chromosome 8p11 and is typically inherited in an autosomal dominant manner.
- Patient with myeloproliferative syndrome may experience enlarged lymph nodes, spleen, and liver, as well as central nervous system involvement.
- Diagnosis of myeloproliferative syndrome is typically confirmed through genetic testing to identify the specific mutation.
Genes and Associated Diseases:
Several genes have been found to be associated with the myeloproliferative syndrome. These include:
| Gene | Associated Disease |
|---|---|
| FGFR1 | 8p11 myeloproliferative syndrome |
| ZNF198 | 8p11 myeloproliferative syndrome |
For more information about these genes and their roles in myeloproliferative syndrome, you can visit the OMIM catalog and search for the respective gene names.
Support and Advocacy:
There are several resources available to support patients and families affected by myeloproliferative syndrome. These include:
- Online articles and scientific references on myeloproliferative syndrome
- Advocacy organizations providing information and support
- Testing resources for genetic testing
- Information on the frequency of the syndrome and the likelihood of passing it on to future generations
To learn more about myeloproliferative syndrome and find support, you can visit the OMIM catalog, PubMed, and other trusted sources.
Scientific Articles on PubMed
When researching information on 8p11 myeloproliferative syndrome, it is important to consult scientific articles and publications available on PubMed. PubMed provides a comprehensive collection of resources related to the study of genetic diseases and disorders.
Scientific articles on PubMed cover a wide range of topics related to 8p11 myeloproliferative syndrome. These articles discuss the underlying causes, inheritance patterns, and associated genes and cells. They also provide information on testing methods and frequency of occurrence.
One of the central themes in these articles is the role of specific genes and their mutations in the development of 8p11 myeloproliferative syndrome. Researchers have identified several genes that are commonly affected by translocations on the 8p11 chromosomes, leading to this condition. These genes are also found to be associated with other diseases, such as lymphoma and cancerous myeloproliferative disorders.
The articles on PubMed provide detailed information about these genes and their functions, helping researchers and clinicians better understand the molecular processes involved in the development of the syndrome. Additionally, they support genetic testing as a valuable tool for diagnosis and prognosis of affected patients.
The frequency of 8p11 myeloproliferative syndrome is relatively rare, making these scientific articles a valuable resource for healthcare professionals and researchers studying the condition. They provide references to additional articles and research papers, enabling readers to access more in-depth information.
For more information about 8p11 myeloproliferative syndrome and its associated genes, cells, and inheritance patterns, researchers and healthcare providers can consult PubMed and its catalog of scientific articles. In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database also offers a wealth of information on this syndrome and other related diseases.
In conclusion, scientific articles on PubMed provide valuable insights and knowledge about 8p11 myeloproliferative syndrome. These articles offer information on the genetic causes, associated genes and cells, testing methods, and more. Researchers and healthcare providers can rely on these resources to further their understanding of this condition and provide better care for affected patients.
References
- Arai, Y., & Kurokawa, M. (2019). 8p11 myeloproliferative syndrome. In Atlas of Genetics and Cytogenetics in Oncology and Haematology (Vol. 23, No. 9). Retrieved from http://documents.irevues.inist.fr/bitstream/handle/2042/35980/agc_8P11Myelo-PM_aGenetics-Atlas_2019.pdf
- Advocacy Myeloproliferative Neoplasms Research Foundation. (n.d.). 8p11 Myeloproliferative Syndrome. Retrieved from https://www.mpnresearchfoundation.org/8p11-mpn
- Nik-Zainal, S., Alexandrov, L. B., Wedge, D. C., et al. (2012). Mutational processes molding the genomes of 21 breast cancers. Cell, 149(5), 979-993. Retrieved from http://doi.org/10.1016/j.cell.2012.04.024
- OMIM (Online Mendelian Inheritance in Man). (2020). 8p11 myeloproliferative syndrome. Retrieved from https://www.omim.org/entry/601626
- Research Foundation for Myeloproliferative Neoplasms. (n.d.). 8p11 Myeloproliferative Syndrome (EMS). Retrieved from https://www.mpnresearchfoundation.org/content/8p11-myeloproliferative-syndrome-ems/