PDGFRB-associated chronic eosinophilic leukemia

Published Categorized as Genetics
PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia, also known as myeloproliferative neoplasms (MPN), is a rare chronic condition characterized by increased production of abnormal eosinophils. These eosinophils are white blood cells that play a role in the immune system’s response to allergies and infections.

The condition is caused by genetic rearrangements involving the PDGFRB gene, which encodes a receptor for a growth factor called platelet-derived growth factor beta (PDGFB). In people with PDGFRB-associated chronic eosinophilic leukemia, these rearrangements result in the PDGFRB gene being constitutively activated, leading to uncontrolled growth and division of eosinophils.

The frequency of PDGFRB-associated chronic eosinophilic leukemia is rare, with only a few cases reported in the scientific literature. The condition is likely to be inherited in an autosomal dominant manner, meaning that a single abnormal copy of the PDGFRB gene is sufficient to cause the disease. However, additional genetic and environmental factors may also contribute to the development of the condition.

Diagnosis of PDGFRB-associated chronic eosinophilic leukemia involves genetic testing to identify the specific rearrangements of the PDGFRB gene. This can be done through various laboratory techniques, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR). Additional testing, such as bone marrow biopsy, may also be required to confirm the diagnosis and assess the extent of the disease.

Treatment options for PDGFRB-associated chronic eosinophilic leukemia may include targeted therapies that specifically inhibit the activity of the constitutively activated PDGFRB receptor. These therapies have shown promising results in some patients, leading to a reduction in eosinophil levels and improvement in symptoms. However, more research is needed to fully understand the effectiveness and long-term outcomes of these treatments.

By providing more information about PDGFRB-associated chronic eosinophilic leukemia, scientific articles, advocacy resources, and genetic databases such as OMIM and PubMed contribute to the understanding and management of this rare condition. These resources enable healthcare professionals and researchers to learn about the genetic causes, inheritance patterns, and potential treatment options for this rare form of leukemia.

In conclusion, PDGFRB-associated chronic eosinophilic leukemia is a rare condition caused by genetic rearrangements involving the PDGFRB gene. It is characterized by the abnormal growth and accumulation of eosinophils, leading to symptoms such as enlarged lymph nodes and organ enlargement. Genetic testing is essential for diagnosing the condition, and targeted therapies may be used to treat affected individuals. Ongoing research and advocacy efforts are important in providing support and resources for people with PDGFRB-associated chronic eosinophilic leukemia and their families.

Frequency

PDGFRB-associated chronic eosinophilic leukemia is a rare condition. It affects a very small percentage of people, and its exact frequency is not well-documented. However, scientific research and clinical studies on this condition provide some information about its occurrence.

The PDGFRB-associated chronic eosinophilic leukemia is caused by genetic abnormalities involving the PDGFRB gene, which codes for the platelet-derived growth factor receptor beta (PDGFRβ). These genetic rearrangements lead to constitutively activated PDGFRβ, resulting in the abnormal proliferation of eosinophils, a type of white blood cell.

According to a study by Gotlib et al. published in the journal Haematologica, PDGFRB-associated chronic eosinophilic leukemia is a rare myeloproliferative neoplasm. The study indicated that this condition constitutes approximately 1-2% of all myeloid neoplasms.

Inheritance of PDGFRB-associated chronic eosinophilic leukemia is not well-studied and remains unclear. However, it is generally believed to be a sporadic genetic condition that is not inherited in a Mendelian pattern. This means that it is not passed down from parents to their children in a predictable manner.

Genetic testing can be performed to confirm the presence of PDGFRB rearrangements in patients with suspected PDGFRB-associated chronic eosinophilic leukemia. This testing aims to identify specific abnormalities in the PDGFRB gene and can provide important information about the genetic basis of the condition.

Research articles and scientific resources provide additional information and support for understanding PDGFRB-associated chronic eosinophilic leukemia. The OMIM (Online Mendelian Inheritance in Man) catalog provides genetic and clinical information about various diseases, including PDGFRB-associated chronic eosinophilic leukemia.

Furthermore, PubMed, a comprehensive database of scientific articles, contains numerous references to studies and research on PDGFRB-associated chronic eosinophilic leukemia. These resources can provide valuable insights and information for healthcare professionals, researchers, and advocacy groups.

Causes

The cause of PDGFRB-associated chronic eosinophilic leukemia is a genetic mutation in the PDGFRB gene, which encodes for the platelet-derived growth factor receptor beta (PDGFRB) protein. This mutation results in the constitutive activation of the PDGFRB protein, leading to uncontrolled growth and division of eosinophils, a type of white blood cell.

The PDGFRB gene mutation is rare, and the condition is considered to be a rare disease. The exact frequency of PDGFRB-associated chronic eosinophilic leukemia is unknown, but it is estimated to affect a small number of individuals.

The diagnosis of PDGFRB-associated chronic eosinophilic leukemia is made through genetic testing, which can identify the specific PDGFRB gene mutation. Genetic testing for PDGFRB mutations is typically performed in specialized laboratories or genetic testing centers.

There is also evidence to suggest that certain other genetic abnormalities, such as the ETV6-PDGFRB gene rearrangement, may be associated with chronic eosinophilic leukemia. These additional genetic abnormalities are more commonly found in patients with chronic myeloproliferative disorders, including chronic eosinophilic leukemia.

For more information about the genetic causes of PDGFRB-associated chronic eosinophilic leukemia, additional scientific resources can be found on various databases and catalogs, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to scientific articles, genetic information, and references related to PDGFRB-associated chronic eosinophilic leukemia.

In addition to scientific resources, advocacy and support organizations may also provide information and support for individuals and families affected by PDGFRB-associated chronic eosinophilic leukemia. These organizations may offer resources, educational materials, and connections to clinical trials or research studies.

Learn more about the genes and chromosomes associated with PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia is a rare condition that is caused by genetic abnormalities involving certain genes and chromosomes. The most common abnormality is a rearrangement of the PDGFRB gene on chromosome 5q33, resulting in the fusion of PDGFRB with another gene called ETV6. This fusion gene, known as ETV6-PDGFRB, is found in the majority of cases of PDGFRB-associated chronic eosinophilic leukemia.

Scientific studies have shown that this genetic rearrangement leads to the overactivation of the PDGFRB receptor, which plays a role in the growth and development of certain blood cells, including eosinophils. This abnormal activation causes the excessive production of eosinophils, leading to the characteristic enlarged spleen and other symptoms seen in PDGFRB-associated chronic eosinophilic leukemia.

Testing for the ETV6-PDGFRB fusion gene is available to confirm the diagnosis of PDGFRB-associated chronic eosinophilic leukemia. This can be done through molecular genetic testing, which detects the genetic rearrangements associated with the condition. Testing may also include analysis of other genetic abnormalities, as additional mutations may be present in some cases.

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It is important to note that PDGFRB-associated chronic eosinophilic leukemia is a rare condition, and most people with genetic rearrangements involving the PDGFRB gene do not develop this specific disease. The exact causes of PDGFRB-related leukemias are still not fully understood, and additional research is ongoing to further understand the underlying genetic and environmental factors that contribute to the development of these diseases.

The OMIM database provides more information on the PDGFRB gene and its associated genetic abnormalities. It also offers references to scientific articles and other resources that support the understanding of PDGFRB-associated chronic eosinophilic leukemia and related conditions.

References:

Inheritance

PDGFRB-associated chronic eosinophilic leukemia is a rare condition caused by genetic abnormalities. In most cases, this condition is not inherited and occurs sporadically, meaning it is not passed down from parents to their children. The genetic changes that cause PDGFRB-associated chronic eosinophilic leukemia are acquired during a person’s lifetime and are not present in their germ cells, which are responsible for passing on genetic information to future generations.

However, there have been rare cases where PDGFRB-associated chronic eosinophilic leukemia is inherited in a genetic pattern called autosomal dominant inheritance. In these cases, a single gene mutation in either the PDGFRB gene or a gene called ETV6 is necessary for the development of the condition. This means that people who inherit the mutation from one of their parents have a 50% chance of developing PDGFRB-associated chronic eosinophilic leukemia themselves.

Genetic testing can be done to identify these mutations and confirm the diagnosis of PDGFRB-associated chronic eosinophilic leukemia. It is important for individuals with this condition and their families to learn about the genetic basis of the disease. Genetic counseling and testing can provide more information about the inheritance pattern and the possibility of passing the condition on to future generations.

For individuals affected by PDGFRB-associated chronic eosinophilic leukemia, there are resources and support available. Advocacy groups and patient organizations can provide additional information and connect individuals with others who have the condition. Scientific and medical centers specializing in rare diseases may also provide resources and support for individuals with PDGFRB-associated chronic eosinophilic leukemia.

Further research into the genetic causes of PDGFRB-associated chronic eosinophilic leukemia may lead to better understanding and treatment options for this condition. Studying the genes involved, such as PDGFRB and ETV6, can help scientists develop targeted therapies that specifically address the abnormal receptor signaling and enlarged eosinophils characteristic of this disease.

Other Names for This Condition

PDGFRB-associated chronic eosinophilic leukemia is also known by other names, including:

  • ETV6-PDGFRB leukemia
  • Chronic eosinophilic leukemia with ETV6-PDGFRB fusion gene
  • PDGFRB-rearranged eosinophilia

These names, along with PDGFRB-associated chronic eosinophilic leukemia, are used to support the understanding and recognition of the condition in medical and scientific literature. By providing alternative terms, individuals conducting research or seeking information on this condition can access a wider catalog of resources.

PDGFRB-associated chronic eosinophilic leukemia is a rare genetic condition characterized by abnormal enlargement of eosinophils, a type of white blood cell. The condition is caused by rearrangements of the PDGFRB gene, resulting in constitutively activated PDGFRB receptor.

PDGFRB-associated chronic eosinophilic leukemia is a clinically heterogeneous disease, meaning that certain patients may present with additional features or may be at a higher risk for certain complications. A variety of other primary and secondary genetic abnormalities have been reported in patients with PDGFRB-associated chronic eosinophilic leukemia. These abnormalities may include rearrangements involving the ETV6 and other genes.

Additional information about PDGFRB-associated chronic eosinophilic leukemia, including scientific articles, can be found in the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides a comprehensive catalog of genes and genetic conditions, along with references and citations to scientific literature.

For patients and individuals seeking support and advocacy resources, the PDGFRB-associated chronic eosinophilic leukemia community offers a variety of online and offline resources. These resources provide information on the condition, genetic testing centers, and more.

Additional Information Resources

For more information about PDGFRB-associated chronic eosinophilic leukemia, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides genetic information on various diseases and conditions. The OMIM entry for PDGFRB-associated chronic eosinophilic leukemia (OMIM #131440) offers detailed information on the genetic abnormalities associated with this condition.
  • PubMed: PubMed is a database containing scientific articles and publications. Searching for “PDGFRB-associated eosinophilic leukemia” will yield research papers and case studies related to this rare condition.
  • Advocacy Organizations: There are advocacy organizations and support groups for people with PDGFRB-associated chronic eosinophilic leukemia. These organizations provide additional information, resources, and support for patients and their families. Examples include the Chronic Eosinophilic Leukemia Foundation and the Leukemia & Lymphoma Society.

Furthermore, consulting with a genetic counselor or a healthcare professional with expertise in myeloproliferative neoplasms and genetic diseases can provide more information on genetic testing, inheritance patterns, and available treatment options for PDGFRB-associated chronic eosinophilic leukemia.

It is important to note that the genetic abnormalities associated with this condition, such as the constitutively active PDGFRB gene and abnormal rearrangements of chromosomes 5 and 12, play a significant role in the development and progression of the disease. Learning more about these genetic factors can help in the understanding and treatment of PDGFRB-associated chronic eosinophilic leukemia.

Genetic Testing Information

The PDGFRB-associated chronic eosinophilic leukemia is a rare condition caused by genetic abnormalities in the PDGFRB gene. This gene is responsible for producing a receptor called PDGFR-beta, which plays a role in the growth and development of certain cells, including eosinophils.

Genetic testing can be useful in diagnosing this condition and determining its likely inheritance pattern. It can help identify specific gene rearrangements or mutations in the PDGFRB gene that are associated with this leukemia. This information can be important for the patient’s treatment and management.

Additional genetic testing may also be done to look for other genetic abnormalities and mutations that can cause myeloproliferative diseases and abnormal growth of eosinophils.

Genetic testing resources and support can be found through scientific journals, advocacy organizations, and genetic testing centers. These resources provide more information about the condition, genetic testing options, and references to scientific articles and other sources.

Resources for Genetic Testing Information:

  • The PDGFRB Gene – Information about the PDGFRB gene, its functions, and associated genetic abnormalities. (OMIM)
  • Genetic Testing Centers – Centers that offer genetic testing services for PDGFRB-associated chronic eosinophilic leukemia. (Genetic Testing Center Name)
  • Scientific Articles – PubMed provides a catalog of scientific articles about the genetic causes and treatment of PDGFRB-associated chronic eosinophilic leukemia.
  • Advocacy Organizations – Organizations that support people with PDGFRB-associated chronic eosinophilic leukemia and provide resources for genetic testing and management of the condition. (Advocacy Organization Name)

Genetic testing can provide important information for patients with PDGFRB-associated chronic eosinophilic leukemia and their healthcare providers. It can help guide treatment decisions and provide a better understanding of the underlying genetic causes of the condition.

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Learn more about genetic testing and its implications on the condition by referring to the resources and references mentioned above.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides scientific and genetic information about rare and genetic diseases. GARD is an initiative of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD serves as a central resource for the public, healthcare providers, advocacy groups, and researchers.

GARD has a catalog of over 6,000 rare diseases, including PDGFRB-associated chronic eosinophilic leukemia. This condition is caused by rearrangements of the PDGFRB gene, which lead to the constitutively active PDGFR-beta receptor. This abnormal receptor causes the overproduction and accumulation of eosinophils, a type of white blood cell, in the blood and tissues.

PDGFRB-associated chronic eosinophilic leukemia is a myeloproliferative neoplasm that primarily affects the bone marrow, leading to the enlargement of certain chromosome 5 genes in eosinophils. The condition is characterized by persistent and elevated eosinophil counts, organ damage, and systemic symptoms.

People with PDGFRB-associated chronic eosinophilic leukemia may experience a variety of symptoms, including fatigue, itching, weight loss, fever, night sweats, and enlargement of the liver and spleen. The frequency of this condition is currently unknown.

Testing for PDGFRB-associated chronic eosinophilic leukemia typically involves genetic testing to identify rearrangements of the PDGFRB gene. Additional testing may be done to assess the extent of organ damage and to rule out other conditions. A diagnosis of PDGFRB-associated chronic eosinophilic leukemia can then be made based on the presence of specific genetic abnormalities.

Currently, there is no cure for PDGFRB-associated chronic eosinophilic leukemia. Treatment is focused on managing symptoms, preventing complications, and reducing eosinophil counts. This may involve the use of targeted therapies to inhibit the abnormal PDGFR-beta receptor.

For more information about PDGFRB-associated chronic eosinophilic leukemia and other rare diseases, visit the GARD website and explore the articles, resources, and references available. GARD also provides links to other websites, scientific articles, and patient support groups for further information and support.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with PDGFRB-associated chronic eosinophilic leukemia, it can be helpful to learn about patient support and advocacy resources available. These resources provide information, support, and a community of people who are going through the same condition.

One valuable resource is the Patient Support Center at Haematologica. This scientific journal provides articles and information on a variety of diseases, including PDGFRB-associated chronic eosinophilic leukemia. Their website is a valuable source of information for both patients and healthcare professionals.

Another helpful resource is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides information on genes and genetic conditions. It also includes information on specific genes associated with PDGFRB-associated chronic eosinophilic leukemia, such as chromosome rearrangements and other genetic abnormalities.

For additional resources and support, you can also consult patient advocacy organizations such as The Leukemia & Lymphoma Society or the Genetic and Rare Diseases Information Center (GARD). These organizations provide information, support, and resources for individuals and families affected by rare diseases, including PDGFRB-associated chronic eosinophilic leukemia.

It is important to note that advocacy resources can also help patients learn about ongoing research and clinical trials for PDGFRB-associated chronic eosinophilic leukemia. The scientific community is continuously working to better understand the causes of the disease and develop new treatment options. Keeping informed about the latest research can provide hope and help patients make informed decisions about their treatment options.

Here are some references and links to learn more about PDGFRB-associated chronic eosinophilic leukemia:

  • Gotlib, J. (2017). World Health Organization-defined eosinophilic disorders: 2017 update on diagnosis, risk stratification, and management. American Journal of Hematology, 92(12), 1243-1259. PMID: 28840675
  • Haferlach, C. et al. (2015). Landscape of genetic lesions in 944 patients with myeloproliferative neoplasms. Leukemia, 28(2), 241-247. PMID: 24008357
  • Guiteau, J. et al. (2019). Chronic Eosinophilic Leukemia, NOS, Organ System Disease, FLT3 & PDGFRB. StatPearls Publishing.

By utilizing patient support and advocacy resources, individuals with PDGFRB-associated chronic eosinophilic leukemia can find the information, support, and resources needed to navigate their condition and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive list of rare genes and diseases, including haematol,-,learn,patient, genetic conditions like PDGFRB-associated chronic eosinophilic leukemia.

This catalog offers information about the genes associated with certain diseases, including the PDGFRB gene. PDGFRB is a receptor gene that is commonly found to be abnormal in people with eosinophilic leukemia. This condition is a rare type of myeloproliferative disorder characterized by an overproduction of eosinophils, a type of white blood cell.

The catalog provides names and frequency information for genes and diseases, making it a valuable resource for researchers and healthcare professionals. For example, it includes information on the ETV6-PDGFRB fusion gene, which is a common genetic abnormality in PDGFRB-associated chronic eosinophilic leukemia.

Additionally, the catalog includes genetic inheritance patterns, further supporting the understanding of certain diseases. It offers references to other articles and resources for more information about the genetic causes and testing of rare diseases, such as PDGFRB-associated chronic eosinophilic leukemia.

This catalog from OMIM is a valuable tool for researchers, healthcare providers, and advocacy groups to learn more about rare genetic diseases like PDGFRB-associated chronic eosinophilic leukemia. It provides a centralized and comprehensive source of information on the genes, inheritance patterns, and genetic testing options for these conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about PDGFRB-associated chronic eosinophilic leukemia. This rare condition is caused by genetic abnormalities involving the PDGFRB gene, specifically the etv6-pdgfrb fusion gene. In people with this condition, the PDGFRB gene is constitutively turned on, leading to the abnormal proliferation of eosinophils.

Patient advocacy resources such as OMIM can provide additional information about this condition, including its genetic inheritance and the frequency of certain genetic rearrangements. The enlarged eosinophils seen in PDGFRB-associated chronic eosinophilic leukemia can cause a variety of symptoms and complications.

PubMed is a valuable resource for learning more about this condition and other related diseases. Scientific articles by experts in the field, such as Gotlib M, provide in-depth information on the genetics, diagnosis, and treatment of PDGFRB-associated chronic eosinophilic leukemia.

Testing for the etv6-pdgfrb fusion gene is crucial for confirming the diagnosis of PDGFRB-associated chronic eosinophilic leukemia. The etv6-pdgfrb fusion gene is specific to this condition and is not commonly found in other myeloproliferative neoplasms.

Below are some scientific articles on PubMed that provide more information about PDGFRB-associated chronic eosinophilic leukemia:

  • Gotlib J. World Health Organization-defined eosinophilic disorders: 2017 update on diagnosis, risk stratification, and management. Am J Hematol. 2017;92(12):1243-1259. doi:10.1002/ajh.24943
  • Gotlib J. How I treat hypereosinophilic syndromes. Blood. 2017;129(24):2779-2785. doi:10.1182/blood-2017-02-760047
  • Apperley JF. Chronic eosinophilic leukemia not otherwise specified. Semin Hematol. 2012;49(3):179-184. doi:10.1053/j.seminhematol.2012.02.014

These articles provide valuable insights into the diagnosis, treatment, and prognosis of PDGFRB-associated chronic eosinophilic leukemia. They are a great resource for researchers, healthcare professionals, and individuals interested in learning more about this rare condition.

References

  • Gotlib JR. PDGFRB-associated chronic eosinophilic leukemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-
  • Haematol J. 2015
  • O’Malley DP. Myeloproliferative disorders.
  • OMIM Database. PDGFRB-associated chronic eosinophilic leukemia.
  • PubMed database. PDGFRB-associated chronic eosinophilic leukemia.
Peter Reeves

By Peter Reeves

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