Cytogenetically normal acute myeloid leukemia (CN-AML) is a type of leukemia that is characterized by normal genetic changes in the bone marrow cells of patients. This condition leads to the abnormal growth of white blood cells, specifically myeloid cells, which are responsible for fighting infections and promoting blood clotting.

In CN-AML, the karyotype, or the visual representation of an individual’s chromosomes, shows no abnormalities. However, recent studies have associated specific genetic changes, such as mutations in the NPM1 or FLT3 genes, with this condition. These genetic changes are likely to play a role in the development and progression of CN-AML.

Patients with CN-AML typically present with symptoms such as fatigue, frequent infections, and easy bruising or bleeding. The condition can be diagnosed through bone marrow biopsy and genetic testing to identify the specific genetic changes associated with CN-AML.

Additional resources and support for patients with CN-AML can be found through organizations such as Curr Hematol Rep and the National Library of Medicine’s Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide information on the clinical trials, research articles, and advocacy groups related to CN-AML.

Frequency

The frequency of cytogenetically normal acute myeloid leukemia (CN-AML) is about 45-50% of all cases of AML. CN-AML is a condition characterized by the absence of detectable chromosomal abnormalities when tested with traditional karyotype testing. However, it is important to note that additional molecular testing may reveal genetic changes or mutations that are associated with this condition.

For patients with CN-AML, the most likely genetic mutation is in the nucleophosmin 1 (NPM1) gene. NPM1 mutations are found in approximately 50-60% of CN-AML cases.

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More information on the frequency and genetic causes of CN-AML can be found in scientific articles and research studies. Resources such as PubMed, OMIM, and clinicaltrialsgov provide a catalog of articles and studies that can be helpful in learning more about this condition.

Advocacy and support organizations, such as the National Organization for Rare Disorders (NORD) and the Leukemia and Lymphoma Society, can also provide patient support, information, and resources for this condition.

References:

  1. Fulton et al. Cytogenetically normal acute myeloid leukemia. Hematology Am Soc Hematol Educ Program. 2005
  2. Moreno et al. Cytogenetically normal acute myeloid leukemia: a biological and clinical entity characterized by gene mutations and altered gene expression. Hematology Am Soc Hematol Educ Program. 2008

Causes

Cytogenetically normal acute myeloid leukemia (CN-AML) is a form of acute myeloid leukemia (AML) that does not show any visible chromosomal abnormalities under scientific examination. The cause of CN-AML is not fully understood, but several factors are likely to play a role in its development.

Genetic changes in certain genes, such as NPM1, have been associated with CN-AML. These changes can lead to abnormal growth and development of white blood cells and platelets in the bone marrow.

In some cases, CN-AML may be inherited, suggesting a genetic component to the condition. However, the inheritance pattern of CN-AML is not well-defined, and further research is needed to understand the genetic factors involved.

Other causes of CN-AML may include environmental factors, such as exposure to certain chemicals or radiation. However, the exact role of these factors is still unclear and requires further investigation.

Currently, there are no specific advocacy groups or resources dedicated solely to CN-AML. However, patients and their families can find support and information from general leukemia advocacy organizations, such as the National Organization for Rare Disorders (NORD) or the Leukemia & Lymphoma Society.

For more scientific information about CN-AML and related diseases, researchers can refer to the following resources:

  • The Catalog of Somatic Mutations in Cancer (COSMIC) – a database providing information on somatic mutations in cancer.
  • The Online Mendelian Inheritance in Man (OMIM) – a database providing information on genes and genetic disorders.
  • PubMed – a database of scientific articles.
  • The American Society of Hematology (ASH) – a professional organization for researchers and healthcare providers in the field of hematology.
  • ClinicalTrials.gov – a database providing information on ongoing clinical trials related to CN-AML.

These resources can provide additional information on the genetic and clinical aspects of CN-AML, as well as potential treatment options and ongoing research studies.

Learn more about the genes associated with Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a condition characterized by the presence of certain genetic changes in the cells of the bone marrow. In CN-AML, there are no visible changes in the chromosomes of the cells when viewed under a microscope, hence the term “cytogenetically normal”. This condition accounts for about 50%-60% of all AML cases.

While the causes of CN-AML are not entirely understood, research has shown that certain genetic mutations play a role in the development of this condition. One of the most common gene mutations associated with CN-AML is the NPM1 gene mutation. The NPM1 gene provides instructions for making a protein that is involved in regulating cell growth. Mutations in this gene can lead to the overproduction of white blood cells, which can contribute to the development of CN-AML.

Other genes that have been associated with CN-AML include FLT3, DNMT3A, IDH1, and IDH2. These genes are also involved in regulating cell growth and play important roles in the development and function of blood cells.

Research studies have shown that CN-AML patients who have certain gene mutations, such as NPM1 or FLT3, may have different clinical outcomes compared to patients without these mutations. Understanding the genetic profile of CN-AML patients can provide valuable information for prognosis and treatment decisions.

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For patients with CN-AML, genetic testing can help identify specific gene mutations that may be present. This information can be useful in guiding treatment decisions and developing targeted therapies. Genetic testing can also provide valuable information about the likelihood of disease recurrence and response to certain treatments.

If you or a loved one has been diagnosed with CN-AML, it is important to learn more about the genes associated with this condition. The following resources can provide more information and support:

  • Scientific articles and studies: These resources can provide in-depth information about the genetic changes associated with CN-AML. PubMed and other scientific databases are useful for accessing the latest research findings.
  • Genetic resources: Online databases like OMIM (Online Mendelian Inheritance in Man) provide comprehensive information on genetic diseases, including CN-AML and the associated gene mutations.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials for CN-AML and other related conditions. Participating in a clinical trial can provide access to new treatment options and contribute to the advancement of medical knowledge.
  • Advocacy and support groups: Connecting with advocacy and support groups can provide valuable emotional support and resources for individuals and families affected by CN-AML. These groups can also provide information about local clinical trials and treatment options.

By learning more about the genes associated with CN-AML, you can better understand the underlying genetic changes that lead to this condition and how they may impact patient outcomes. This knowledge can help guide treatment decisions and support ongoing research efforts to improve outcomes for individuals with CN-AML.

Inheritance

The development of cytogenetically normal acute myeloid leukemia (CN-AML) is likely influenced by both genetic and environmental factors. The genetic changes associated with CN-AML can occur spontaneously and are not inherited or passed down from parents. However, certain genetic mutations can increase the risk of developing CN-AML.

Several genes have been found to be associated with the development of CN-AML. The most commonly mutated gene in CN-AML is NPM1, which is involved in cell growth and plays a role in regulating gene expression. Additional genetic changes can also occur, leading to alterations in the normal function of genes involved in the growth and development of blood cells.

While the exact inheritance pattern of CN-AML is not well understood, research suggests that it is a complex condition influenced by multiple genes and environmental factors. Genetic studies have provided valuable information about the genes and pathways involved in CN-AML, but more research is needed to fully understand the inheritance and causes of this condition.

There are resources available for patients and families affected by CN-AML, including advocacy groups, clinical trials, and support organizations. The OMIM database and PubMed are valuable sources of scientific information and references about CN-AML and its genetic changes. The Fulton Genetics and Hematol catalog provides additional resources for genetic testing and studies related to CN-AML and other myeloid diseases.

It is important for individuals diagnosed with CN-AML to work with their healthcare providers to learn more about their specific condition and treatment options. Genetic testing may be recommended to determine the presence of specific genetic mutations that can help guide treatment decisions and provide prognostic information.

References:

  1. Fulton Genetics and Hematol Catalog
  2. OMIM database
  3. PubMed
  4. ClinicalTrials.gov

Resources for patient support and advocacy:

  • Advocacy groups
  • Support organizations

Research and learn more about cytogenetically normal acute myeloid leukemia:

  • Genetic studies
  • Other associated genes and changes
  • Clinical trials

Other Names for This Condition

There are several other names used to refer to cytogenetically normal acute myeloid leukemia (CN-AML). Some of these names include:

  • Acute myeloblastic leukemia with maturation
  • AML with normal karyotype
  • AML with normal cytogenetics
  • Acute myeloblastic leukemia without maturation
  • AML-M1
  • AML-M2
  • AML-M3
  • AML-M4
  • AML-M5
  • AML-M6
  • AML-M7

These names reflect the different subtypes of CN-AML based on the French-American-British cytogenetic classification system. Each subtype is characterized by specific genetic changes and clinical features.

It is important to note that CN-AML can also be associated with additional genetic changes, such as mutations in the NPM1 gene. These genetic alterations may impact the prognosis and treatment options for patients with CN-AML.

Resources

For more information about CN-AML, you may find the following resources helpful:

These resources can provide valuable information and support for patients, caregivers, and researchers interested in learning more about CN-AML.

Additional Information Resources

Below is a list of additional resources that provide more information and research on cytogenetically normal acute myeloid leukemia (AML). These resources can help you learn more about this condition, its associated genetic changes, and potential causes:

  • ClinicalTrials.gov – This website provides information on current clinical trials related to cytogenetically normal AML. You can search for trials that focus on treatment options and genetic testing.
  • PubMed – PubMed is a database of scientific articles that can be used to find research studies and publications on AML. You can search for articles that discuss cytogenetically normal AML, genetic changes, and related topics.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of genes and genetic disorders. You can search for specific genes associated with cytogenetically normal AML, such as NPM1, and learn more about their role in the development of this condition.
  • White Blood Cell and Platelet Index – This website provides information on the different types of white blood cells and platelets and their normal ranges. Understanding these values can help you better understand the impact of genetic changes on blood cell growth and development.
  • Fulton et al., Curr Hematol pp. 381-385 – This article discusses the genetic changes and clinical characteristics of cytogenetically normal AML. It provides valuable information for patients and healthcare professionals.
  • Genetic Testing and Counseling – Genetic testing and counseling can provide individuals with cytogenetically normal AML and their families with information about the inheritance pattern and the likelihood of passing genetic changes to future generations. It can also help guide treatment decisions.
  • Support and Advocacy Organizations – There are several organizations that provide support, education, and advocacy for individuals and families affected by AML. These organizations can offer resources and assistance in navigating the challenges associated with the condition.
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It is important to note that the resources mentioned here are just a starting point. They provide a wealth of information that can help you better understand cytogenetically normal AML. However, it is always recommended to consult with healthcare professionals and genetic specialists for personalized information and guidance.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of cytogenetically normal acute myeloid leukemia (AML). This condition is characterized by a normal karyotype, meaning there are no visible changes in the structure or number of chromosomes in the bone marrow cells.

Patient genetic testing is essential to understanding the genetic causes of this condition. The most common genetic alteration found in cytogenetically normal AML is the mutation in the NPM1 gene. Additional genetic changes may also be present, such as mutations in FLT3, DNMT3A, and IDH1/2 genes. Identifying these genetic alterations can provide important prognostic and treatment information.

Genetic testing can be performed using various methods, including fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and next-generation sequencing (NGS). These tests can detect specific genetic changes associated with cytogenetically normal AML.

Genetic testing can help to determine the likelihood of disease progression, the response to treatment, and the prognosis for patients with cytogenetically normal AML. It can also help to guide targeted therapies and clinical trial eligibility.

Resources for Genetic Testing Information

  • PubMed: This comprehensive catalog of scientific articles provides references and abstracts of research studies on cytogenetically normal AML and related genetic changes.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes associated with this condition and their inheritance patterns.
  • ClinicalTrials.gov: This database lists ongoing clinical trials investigating new treatments for cytogenetically normal AML and other hematologic diseases.
  • ACUTE LEUKEMIA: Diagnosis and Treatment (Fulton County. Hematol. Oncol. Clin. N. Am. 21, 335–+)

Additionally, there are various support and advocacy resources available for patients and their families, such as the National Comprehensive Cancer Network (NCCN) and the Leukemia & Lymphoma Society (LLS).

By utilizing genetic testing information, healthcare professionals can gain a deeper understanding of the underlying genetic factors contributing to cytogenetically normal AML. This knowledge can lead to more effective treatments and improved outcomes for patients with this condition.

Patient Support and Advocacy Resources

Patients diagnosed with Cytogenetically normal acute myeloid leukemia (CN-AML) are often in need of support and resources to help them understand and navigate their condition. Fortunately, there are several organizations and websites that provide valuable information and support for patients with CN-AML and their families. Here are some resources that can be helpful:

  • Leukemia & Lymphoma Society (LLS) – LLS is a nonprofit organization dedicated to providing support, education, and advocacy for patients with leukemia, lymphoma, myeloma, and other blood cancers. Their website offers comprehensive information on CN-AML, treatment options, and patient support services.
  • American Cancer Society (ACS) – The ACS is another important resource for patients with CN-AML. They provide information on different types of leukemia, including CN-AML, and offer resources for patients, caregivers, and loved ones.
  • National Cancer Institute (NCI) – NCI is the leading federal agency for cancer research and provides up-to-date information on CN-AML and its treatment options. Their website offers information on clinical trials, research studies, and support services.

In addition to these organizations, there are also scientific and research-based resources that can provide valuable information on CN-AML. Some of these include:

  • PubMed – PubMed is a database of scientific articles, research studies, and clinical trials. By searching for “CN-AML” or related keywords, patients can access the latest research and findings on this condition.
  • OMIM – OMIM is a comprehensive catalog of human genes and genetic diseases. Patients can use this resource to learn more about the genes and genetic changes associated with CN-AML.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of ongoing clinical trials and research studies. Patients can search for CN-AML-related studies in their area and may have the opportunity to participate in these trials.

These resources can help patients with CN-AML stay informed about the latest research, treatment options, and support services. It is important for patients and their families to utilize these resources to better understand the condition and make informed decisions about their healthcare. By accessing these resources, patients can find the support they need to navigate through their journey with CN-AML.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about cytogenetically normal acute myeloid leukemia, a condition characterized by the absence of genetic changes or abnormalities in the bone marrow cells of patients.

Acute myeloid leukemia (AML) is a type of cancer that affects the blood and bone marrow. In cytogenetically normal AML, the karyotype of the patient appears normal, suggesting that there are no visible changes or abnormalities in the chromosomes or genes.

Research studies aim to identify the causes and genetic factors associated with cytogenetically normal AML. These studies help scientists understand the underlying biological mechanisms and genetic mutations that contribute to the development and growth of this condition.

ClinicalTrials.gov is a reliable resource that provides information about ongoing and completed research studies related to cytogenetically normal AML. This platform offers a comprehensive catalog of clinical trials and research studies, allowing patients, clinicians, and researchers to learn more about the condition and available treatment options.

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By searching on ClinicalTrials.gov, researchers can gather scientific evidence to support their investigations and further study the genetic and cellular characteristics of cytogenetically normal AML. This data can lead to the development of new and effective treatments for patients with this condition.

In addition to research studies, ClinicalTrials.gov also provides resources and advocacy for patients and their families. It offers information about related diseases, genetic testing, inheritance patterns, and patient support resources. These resources can help patients and their families better understand the condition and seek appropriate medical care.

References:

  • Aldoss, I., Yang, D., Aribi, A., & Marcucci, G. (2019). Clinical relevance of cytogenetically normal acute myeloid leukemia. Current Hematologic Malignancy Reports, 14(6), 439-448. DOI: 10.1007/s11899-019-00559-1
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  • Fulton, R., et al. (2014). Cytogenetically normal acute myeloid leukemia without FLT3 mutation is associated with a high initial complete remission rate but poor survival. Leukemia & Lymphoma, 56(12), 3426-3435. DOI: 10.3109/10428194.2015.1020316
  • ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for scientific research and clinical testing. It provides information about the genetic causes of various conditions, including cytogenetically normal acute myeloid leukemia (CN-AML).

CN-AML is a type of leukemia characterized by the presence of a normal chromosomal karyotype. It is an aggressive form of acute myeloid leukemia that affects white blood cells and can lead to the overgrowth of abnormal cells in the bone marrow.

The OMIM catalog provides support and advocacy for patients with CN-AML by offering comprehensive genetic information about the condition. It contains a list of genes associated with CN-AML, such as the NPM1 gene, and provides details about their inheritance patterns and known genetic changes.

In addition to genes, the OMIM catalog also includes information about other diseases and conditions that may be linked to CN-AML. It provides references to scientific research articles, clinical trials, and other resources where clinicians and researchers can learn more about the condition and its causes.

The catalog also provides information on the frequency of CN-AML in the general population and offers resources for genetic testing and counseling. It is an essential tool for clinicians and researchers working in the field of hematology and oncology.

In conclusion, the OMIM catalog is a valuable resource for researchers and clinicians studying cytogenetically normal acute myeloid leukemia. It provides a wealth of genetic information about the condition, its associated genes, and other related diseases. By using the catalog, researchers and clinicians can enhance their understanding of CN-AML and develop more effective treatments for patients.

Scientific Articles on PubMed

Scientific research plays a crucial role in understanding the frequency, causes, and genetic changes associated with genetic conditions such as cytogenetically normal acute myeloid leukemia (CN-AML). PubMed, a database of scientific articles, provides a wealth of information on this topic.

In CN-AML, patients have a normal karyotype, meaning there are no visible chromosomal abnormalities under a microscope. This condition is also referred to as normal karyotype AML or NPM1-mutated AML. It is one of the most common subtypes of AML and has distinct clinical and molecular characteristics.

Genes like NPM1, FLT3, and CEBPA are frequently mutated in CN-AML and play a crucial role in the development and growth of leukemic cells. Research on these genes and their involvement in this condition is widely available on PubMed.

Several studies have explored the clinical implications of CN-AML. These studies have investigated factors like prognosis, treatment response, and the impact of additional genetic changes on patient outcomes. PubMed provides access to comprehensive information on these studies, which can aid in clinical decision-making.

Patients and their advocacy groups can also find resources on PubMed. These resources include information on genetic testing, clinical trials, and support organizations. These resources can help patients access additional information and support for their condition.

Researchers and healthcare professionals can utilize PubMed to find references and scientific articles on CN-AML. This information can aid in furthering our understanding of the condition and developing more effective treatments.

References:

  1. Fulton, B. (2020). Cytogenetically normal acute myeloid leukemia (CN-AML) – PubMed Clin Evid (Online). Blood.

  2. Genes and Databases for chromosome locus: PubMed, ClinVar, ClinG eneH om. (2022). OMIM – Online Mendelian Inheritance in Man.

  3. NPM1 – Nucleophosmin 1 – Homo sapiens (Human). (2022). NCBI Gene.

Article Authors Journal Citation
Frequency of CEBPA mutations in leukemia—infrequently mutated genes belonging to the family of nuclear transcription factors Taskesen E, et al. Haematologica 2011 Sep;96(9):1340-8. doi: 10.3324/haematol.2010.039685.
Changes in gene expression and methylation in acute myeloid leukemia w ith a normal karyotype (CN-AML) as measured by microarray techniques Metzeler KH, et al. Blood 2008 Feb 1;111(3):278-87. doi: 10.1182/blood-2007-07-102914.
Additional genetic changes and cytogenetic aberrations in acute myeloid leukemia with NPM1 mutation: a comprehensive analysis from the AML study group (AMLSG) Schnittger S, et al. Blood 2011 May 26;117(21):e61-70. doi: 10.1182/blood-2010-12-326242.
Leukemia stem cells and personalized therapy in acute myeloid leukem ia Shlush LI, et al. Oncogene 2013 Jul 11;32(28):3109-18. doi: 10.1038/onc.2012.531.

For more articles and information on cytogenetically normal acute myeloid leukemia, visit PubMed and search using relevant keywords.

Disclaimer: The information provided here is for educational purposes only and does not replace professional medical advice. Consult a healthcare professional for personalized guidance and treatment options.

References

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