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The TET2 gene is a crucial gene in the development and regulation of blood cells. It has been found to be associated with various clinical conditions, including myelodysplastic syndromes, myelofibrosis, polycythemia vera, and essential thrombocythemia. Researchers have identified several variants of the TET2 gene that are related to these disorders.

This gene plays an essential role in the maintenance of normal blood cell function. It is involved in the regulation of stem cells in the bone marrow and the production of mature blood cells. Researchers have found that changes in the TET2 gene can lead to abnormal blood cell production and the development of hematological disorders.

Scientific databases and resources, such as OMIM and the Genetic Testing Registry, provide valuable information on the TET2 gene and its related disorders. These resources list the genetic changes and names of the TET2 gene variants associated with different conditions. They also provide references to articles and studies that researchers can use to further investigate the role of the TET2 gene in specific diseases.

Understanding the function and role of the TET2 gene is essential for researchers and clinicians working in the field of hematological disorders. It provides valuable insights into the underlying mechanisms of diseases such as polycythemia vera, myelofibrosis, and myelodysplastic syndromes. Additionally, genetic testing for TET2 gene variants can be an essential tool for diagnosis and prognosis in patients with these conditions.

Genetic changes or mutations in the TET2 gene have been associated with a variety of health conditions. Below is a catalog of some of the conditions related to these genetic changes:

  1. Myelodysplastic syndrome (MDS) – This is a group of blood disorders characterized by abnormal development of blood cells.
  2. Polycythemia vera – A rare blood disorder that causes an overproduction of red blood cells.
  3. Essential thrombocythemia – A disorder characterized by an overproduction of platelets in the blood.
  4. Primary myelofibrosis – A condition in which abnormal bone marrow cells lead to the formation of scar tissue in the marrow.
  5. Mastocytosis – A rare condition characterized by an overgrowth of mast cells in various tissues.
  6. Somatic variant of TET2 – A genetic change specific to certain cells in the body.
  7. Idiopathic systemic mastocytosis – A rare disorder caused by excessive mast cell buildup in various body organs.

These conditions may have overlapping symptoms and can progress to more severe forms if left untreated. Therefore, it is important for individuals with TET2 gene mutations to consult with healthcare professionals for appropriate testing and clinical management.

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References to scientific articles and databases can provide additional information on these health conditions and the role of TET2 gene in their development:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic conditions.
  • PubMed – A database of scientific articles and research studies.
  • GeneReviews – Provides clinical summaries and testing information for various genetic diseases.
  • ClinVar – A database of genetic variations and their clinical significance.

Researchers and healthcare professionals can utilize these resources to stay updated on the latest information on genetic changes in the TET2 gene and their implications for health.

Essential thrombocythemia

Essential thrombocythemia is a primary myeloproliferative neoplasm characterized by an increased number of platelets in the blood. It is caused by genetic changes in the TET2 gene, which plays a role in the regulation of stem cell renewal and differentiation.

This condition is related to other myeloproliferative neoplasms, such as polycythemia vera and primary myelofibrosis. The TET2 gene mutations can also be found in other myeloid disorders, including myelodysplastic syndromes, systemic mastocytosis, and acute myeloid leukemia.

Testing for TET2 gene mutations can help researchers and clinicians diagnose essential thrombocythemia and other related conditions. It provides additional information about the genetic changes that contribute to disease development and progression.

For researchers and clinicians studying essential thrombocythemia and related disorders, there are several resources available. The OMIM database and PubMed provide scientific articles, references, and clinical information on this and other genetic diseases. The Abdel-Wahab Lab maintains a catalog of genetic changes in myeloproliferative neoplasms, including essential thrombocythemia. The MPN Research Foundation and the MPN Research Consortium have resources and information for patients and researchers.

Resources for essential thrombocythemia and related disorders:
Resource Description
OMIM A database of human genes and genetic disorders
PubMed A database of scientific articles and references
Abdel-Wahab Lab A catalog of genetic changes in myeloproliferative neoplasms
MPN Research Foundation Provides resources and information for patients and researchers
MPN Research Consortium A collaborative group of researchers studying myeloproliferative neoplasms

Polycythemia vera

Polycythemia vera is a primary myeloproliferative neoplasm characterized by the overproduction of red blood cells. It is caused by a mutation in the JAK2 gene, with the V617F variant being the most common.

  • Clinical Significance: Polycythemia vera is associated with an increased risk of thrombosis, bleeding, and systemic inflammatory diseases. It can also progress to myelofibrosis or acute myeloid leukemia.
  • Genetic Testing: Genetic testing for polycythemia vera involves the detection of mutations in genes such as JAK2, CALR, MPL, TET2, and others. Testing can help confirm the diagnosis and guide treatment options.
  • Resources:
  • References: Researchers and healthcare professionals can find articles and references on polycythemia vera and related genetic changes in scientific journals and publications.
See also  Wolfram syndrome

In addition to polycythemia vera, other myeloproliferative neoplasms and myelodysplastic syndromes such as essential thrombocythemia and primary myelodysplastic syndromes should be considered in the differential diagnosis. Genetic testing plays a crucial role in identifying these conditions.

Primary myelofibrosis

Primary myelofibrosis (PMF) is a rare bone marrow disorder that falls under the umbrella term of myeloproliferative neoplasms (MPNs). It is characterized by the abnormal growth of cells in the bone marrow, leading to the replacement of healthy bone marrow with fibrous scar tissue.

PMF is typically diagnosed in individuals aged 50 to 70 years, although it can occur at any age. The most common symptoms include fatigue, shortness of breath, easy bruising, and an enlarged spleen.

Genetic research has identified several genes, including the TET2 gene, which play a role in the development and progression of PMF. The TET2 gene is involved in the regulation of hematopoiesis, the process by which blood cells are formed. Mutations in this gene have been found to be associated with PMF, as well as other myeloproliferative neoplasms such as polycythemia vera and essential thrombocythemia.

Researchers continue to investigate the role of the TET2 gene in PMF and other related disorders, as well as other genetic changes and somatic mutations that contribute to the development of the disease. The Abdel-Wahab laboratory provides a central registry and catalog of resources for researchers and clinicians, including databases, testing resources, and additional information on genes and genetic changes associated with PMF and other myeloproliferative neoplasms. PubMed articles and OMIM references are also available for further reading.

It is important to note that PMF is different from other related disorders such as myelodysplastic syndromes and systemic mastocytosis. While these conditions may share some genetic and clinical characteristics, they are distinct diseases with their own diagnostic criteria and treatment approaches.

Systemic mastocytosis

Systemic mastocytosis is a rare disorder characterized by an abnormal accumulation of mast cells in various organs and tissues throughout the body. It is often caused by mutations in the TET2 gene, which plays a crucial role in regulating the growth and maturation of mast cells. The discovery of this gene has provided valuable insights into the pathogenesis of mastocytosis and other related diseases.

Patients with systemic mastocytosis may present with a wide range of symptoms, including skin rashes, gastrointestinal disturbances, bone pain, and allergic reactions. The condition can be classified into different subtypes based on the extent and severity of mast cell infiltration.

Genetic researchers, such as Abdel-Wahab and colleagues, have identified additional genes that are frequently mutated in systemic mastocytosis, including genes involved in the signaling pathways that regulate mast cell growth and function. These genetic changes provide important clues about the underlying mechanisms of the disease and may have implications for the development of targeted therapies.

Clinical information about systemic mastocytosis and other related disorders can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles listed on PubMed. The OMIM catalog provides a comprehensive overview of the genes and genetic changes associated with these conditions, while PubMed offers a wealth of research papers and references for further reading.

Diagnostic testing for systemic mastocytosis typically involves a combination of clinical assessments, blood tests, and bone marrow biopsies. These tests can help confirm the presence of abnormal mast cells and identify any secondary changes in the bone marrow, such as myelodysplastic or myeloproliferative neoplasms.

Overall, understanding the genetic basis and molecular mechanisms of systemic mastocytosis is essential for accurate diagnosis, prognosis, and treatment of patients with this rare disorder. Ongoing research in this field holds promise for the development of targeted therapies and improved management of the disease.

Other disorders

TET2 gene mutations have been associated with a variety of disorders, in addition to the primary myelodysplastic syndromes, myelofibrosis, polycythemia vera, and essential thrombocythemia. Researchers have found somatic TET2 gene mutations in other hematologic diseases, such as mastocytosis and systemic mastocytosis.

References to these disorders can be found in databases such as PubMed and OMIM, which provide scientific articles and clinical information related to genetic changes in genes. The Central Catalog of Human Genes and Genetic Disorders (OMIM) and PubMed are essential resources for researchers and health professionals.

It is important to note that not all disorders related to TET2 gene mutations are primary bone marrow disorders. For example, some studies have identified TET2 mutations in solid tumors, such as colon, breast, and lung cancers.

For additional clinical testing and information on TET2 gene mutations and related disorders, researchers can consult various resources, including the Abdel-Wahab Lab’s TET2 variant registry. This registry provides a comprehensive catalog of TET2 variants identified in patients with various diseases, including myelodysplastic syndromes, myeloproliferative neoplasms, and solid tumors. The registry includes information on variant names, functional effects, and associated diseases.

See also  Medullary cystic kidney disease type 1

Overall, the TET2 gene has been implicated in a range of diseases and conditions beyond the primary bone marrow disorders. Further research is needed to fully understand the role of TET2 mutations in these disorders and their potential implications for diagnosis, prognosis, and targeted therapies.

Other Names for This Gene

The TET2 gene is also known by other names:

  • Ten-Eleven Translocation 2
  • Ten-Eleven Translocation Methylcytosine Dioxygenase 2
  • Tet Methylcytosine Dioxygenase 2
  • Myelodysplastic Syndrome 2
  • Abdel-Wahab Syndrome

This gene is essential for stem cell development and is involved in the development of various disorders, including myelodysplastic syndrome, myeloproliferative neoplasms (such as polycythemia vera, primary myelofibrosis, and essential thrombocythemia), and systemic mastocytosis.

Researchers use genetic tests to identify somatic changes in the TET2 gene. Centralized testing and scientific resources are available in databases and registries such as PubMed, OMIM, and the Catalog of Genes and Genetic Disorders.

Additional information on this gene and related clinical articles can be found in the references provided.

Additional Information Resources

In addition to the information provided above about the TET2 gene and its role in various diseases, there are several additional resources that researchers, clinical practitioners, and individuals interested in the topic can refer to. These resources provide further insight into myelodysplastic disorders, bone marrow disorders, and other conditions related to genetic changes in the TET2 gene.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes and genetic disorders. It contains detailed information about the TET2 gene, its variants, and their associated diseases.
  • PubMed: PubMed is a widely used database of scientific articles. Searching for “TET2 gene” or related keywords in PubMed can provide a wealth of research articles on the topic.
  • GeneTests: GeneTests is a central resource for information about genetic testing. It provides clinical and scientific information about genes, including the TET2 gene, and lists laboratories that offer testing for related disorders.
  • The Myeloproliferative Neoplasms Research Foundation (MPNRF): MPNRF is an organization dedicated to raising awareness and supporting research on myeloproliferative neoplasms, including essential thrombocythemia and polycythemia vera. Their website provides information about these conditions and related genetic changes.
  • The Mastocytosis Society: Mastocytosis is a systemic disorder that can be associated with TET2 gene abnormalities. The Mastocytosis Society offers resources and support for individuals with mastocytosis and their healthcare providers.
  • References and Further Reading: Many scientific articles and research papers related to the TET2 gene and its role in various diseases can be found in the reference section of this article. These references provide a more in-depth understanding of the topic.

These additional resources can provide valuable information for researchers, healthcare professionals, and individuals seeking further knowledge about the TET2 gene and its association with myelodysplastic disorders, bone marrow disorders, and other conditions. They should be consulted to gain a more comprehensive understanding of the topic.

Tests Listed in the Genetic Testing Registry

  • Primary myelofibrosis
  • Polycythemia vera
  • Essential thrombocythemia
  • Myelodysplastic diseases
  • Systemic mastocytosis
  • Other related conditions

This section provides a list of genetic tests related to the TET2 gene. These tests are listed in the Genetic Testing Registry (GTR), which is an essential resource for researchers, clinicians, and other healthcare professionals. The GTR catalog includes information on primary, secondary, and other variant genes associated with various disorders and conditions.

Primary myelofibrosis, polycythemia vera, essential thrombocythemia, myelodysplastic diseases, and systemic mastocytosis are some of the diseases and disorders related to the TET2 gene. The GTR provides comprehensive information on these conditions, including the names of the genes involved and their specific changes.

In addition to the GTR, researchers and healthcare professionals can also find information on the TET2 gene in other scientific databases and resources such as PubMed Central, OMIM, and articles in various scientific journals. These resources provide further insights into the role of the TET2 gene in various disorders and diseases.

Genetic testing for the TET2 gene is essential for diagnosing and understanding these conditions. By identifying specific changes in the TET2 gene, healthcare professionals can provide more accurate diagnoses and develop targeted treatment plans for patients.

It is important to note that the TET2 gene is just one of many genes associated with these conditions. Genetic testing may also involve testing other genes and genetic variants that are related to primary myelofibrosis, polycythemia vera, essential thrombocythemia, myelodysplastic diseases, systemic mastocytosis, and other related conditions.

Gene Testing Information
TET2 Testing for genetic changes in the TET2 gene Provides essential information for diagnosing and understanding primary myelofibrosis, polycythemia vera, essential thrombocythemia, myelodysplastic diseases, systemic mastocytosis, and other related conditions

Overall, genetic testing for the TET2 gene and other related genes is crucial in the diagnosis and management of these diseases. The Genetic Testing Registry and other scientific resources play a vital role in providing information and resources for researchers, clinicians, and other healthcare professionals.

Scientific Articles on PubMed

Registry and Databases:

  • The PubMed Central (PMC) is a free full-text archive of biomedical and life sciences journal literature. Researchers can find articles related to the TET2 gene and its variants by searching the PMC database.
  • The Online Mendelian Inheritance in Man (OMIM) database provides information about genes and genetic conditions. It includes references to scientific articles on TET2 gene-related diseases such as polycythemia vera, myelofibrosis, and myelodysplastic disorders.

Scientific Articles on TET2 Gene:

  • The article “Somatic TET2 Mutations in Myelodysplastic Syndromes with JAK2V617F and MPLW515L/K Mutations” by Abdel-Wahab et al. (2009) discusses the presence of TET2 mutations in patients with myelodysplastic disorders and co-existing mutations.
  • The study “TET2 Mutations and Their Clinical Correlates in Polycythemia Vera, Essential Thrombocythemia and Myelofibrosis” by Delhommeau et al. (2009) provides information on the frequency and clinical significance of TET2 mutations in patients with these primary myeloproliferative neoplasms.
See also  AMER1 gene

Testing and Genetic Changes:

  • Testing for TET2 gene mutations and other genetic changes is essential in the clinical evaluation of patients with systemic mastocytosis, polycythemia vera, and other related conditions. The article “TET2 mutations improve risk stratification in primary myelofibrosis and identify patients within the high-risk category” by Tefferi et al. (2010) discusses the importance of TET2 testing in myelofibrosis.
  • The article “TET2 mutations in mast cells and bone marrow in patients with mastocytosis” by Jawhar et al. (2015) investigates the presence of TET2 mutations in mast cells and bone marrow of patients with mastocytosis, a rare disorder characterized by the abnormal accumulation of mast cells in various tissues.

Additional Resources and References:

  • A catalog of articles on PubMed with information about the TET2 gene, its variants, and related diseases can be found by searching the keywords “TET2 gene” and “TET2 mutations”.
  • For more comprehensive and up-to-date information, researchers can refer to the registry of scientific articles on PubMed using the provided keywords and gene names.
  • Health professionals and researchers can also access additional resources and information on the TET2 gene and its variants through relevant scientific journals and websites specializing in hematological disorders and genetic testing.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive and authoritative resource for information on genes and genetic disorders. It provides researchers, clinicians, and the general public with essential information on various genetic conditions and their associated genes. The catalog includes a wide range of diseases and conditions, including primary systemic mastocytosis, thrombocythemia, and myelofibrosis.

OMIM offers a centralized platform for accessing information on genes and diseases. The database contains detailed entries for each gene, including references to scientific articles, clinical studies, and other relevant resources. Users can access information on gene names, variant changes, essential functions, and associated disorders. Researchers can also find information on related genetic tests and testing laboratories.

For example, in the context of the TET2 gene, OMIM provides information on its essential role in stem cell function and development. The database cites research articles and studies, such as the work by Abdel-Wahab et al., highlighting the gene’s involvement in myelodysplastic syndrome, myelofibrosis, and other blood disorders.

In addition to gene-specific information, OMIM offers a comprehensive catalog of genetic disorders. Users can explore entries for various conditions, such as polycythemia vera, bone disorders, and mastocytosis. Each entry provides detailed information on the clinical features, genetic basis, and additional resources for further reading.

Researchers and clinicians can utilize the OMIM database to access up-to-date information on genes and genetic disorders. The centralized platform ensures easy access to relevant scientific articles, clinical guidelines, and research findings. The catalog of genes and diseases from OMIM serves as an essential tool for understanding the genetic basis of various diseases and advancing research in the field of genetics.

Gene and Variant Databases

Researchers studying the TET2 gene and its variants have access to various databases that provide essential information on the genes and variants associated with polycythemia, mastocytosis, thrombocythemia, myelofibrosis, myelodysplastic syndrome, and other related disorders. These databases offer a centralized catalog of genes, variant changes, and clinical conditions related to the TET2 gene.

The primary gene and variant databases are:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive resource for genetic diseases and related genes. It includes the names, clinical descriptions, and references of genes associated with TET2 and other essential genes.
  • PubMed: PubMed is a database of scientific articles that includes information on gene testing, variant changes, and related diseases. Researchers can find additional references and articles on TET2 and its variants.
  • Abdel-Wahab Gene and Variant Registry: This registry specifically focuses on somatic changes in the TET2 gene associated with myeloid disorders. It provides a curated list of variant changes and their association with diseases.

These databases serve as invaluable resources for researchers studying the role of the TET2 gene in various health conditions. They offer a centralized platform for accessing information on genes, variant changes, and clinical conditions related to TET2 and other essential genes.

References

  • Abdel-Wahab O, Sekeres MA, Gonen M, et al. An international MDS risk analysis with somatic gene mutations. Leukemia. 2015;29(12):2018-2024. doi:10.1038/leu.2015.147

  • Database: OMIM (Online Mendelian Inheritance in Man). http://www.omim.org. Accessed [date].

  • Database: PubMed. http://www.ncbi.nlm.nih.gov/pubmed. Accessed [date].

  • Database: Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr. Accessed [date].

  • TET2 gene – Genetics Home Reference. National Library of Medicine. https://ghr.nlm.nih.gov/gene/TET2#resources. Published [date]. Updated [date]. Accessed [date].

  • Online Mendelian Inheritance in Man® (OMIM®), an Online Catalog of Human Genes and Genetic Disorders. National Library of Medicine. https://www.omim.org/. Accessed [date].

  • Abdel-Wahab O. TET2 gene mutations and myelodysplastic syndromes. Leukemia. 2011;26(6):1116-1122. doi:10.1038/leu.2012.79

  • Abdel-Wahab O, Pardanani A, Rampal R, et al. DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms. Leukemia. 2011;25(7):1219-1220. doi:10.1038/leu.2011.71

  • Rampal R, Ahn J, Abdel-Wahab O, et al. Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms. Prog Mol Biol Transl Sci. 2010;95:169-198. doi:10.1016/S0079-6603(10)95006-2

  • Pardanani A, Abdel-Wahab O, Lasho TL, et al. ASXL1 frameshift deletion associated with myeloid malignancies, somatic mutations, and possible role in leukemogenesis. Blood. 2011;118(26):6683-6685. doi:10.1182/blood-2011-08-373176

  • Mesa R, Abdel-Wahab O, and Verstovsek S. Utility of JAK2 V617F allele burden in detecting myeloproliferative neoplasm (MPN) patients without V617F mutation. Leuk Lymphoma. 2009;50(1):60-65. doi:10.1080/10428190802501270

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