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Chronic myeloid leukemia (CML) is a rare form of leukemia that affects the bone marrow and blood. It is characterized by the abnormal growth and function of certain cells in the bone marrow, known as myeloid cells. These cells form too many white blood cells, red blood cells, and platelets, which can lead to problems in the blood and other organs.

CML is caused by a genetic abnormality in the chromosomes of the myeloid cells. In most cases, a specific chromosome called the Philadelphia chromosome is formed. This abnormality is associated with the fusion of two genes, resulting in the production of a protein called BCR-ABL, which promotes the uncontrolled growth of myeloid cells.

CML has three phases: chronic, accelerated, and blastic. In the chronic phase, the disease progresses slowly and patients may not experience any symptoms. As the disease progresses to the accelerated phase, symptoms may worsen and the number of blast cells in the blood and bone marrow increases. In the blastic phase, the disease transforms into a more aggressive form similar to acute leukemia.

Research and clinical trials are ongoing to learn more about the causes, mechanisms of disease progression, and treatment options for CML. Scientists are studying the genetic and molecular mechanisms involved in CML, as well as potential targeted therapies. Additional information and resources about CML can be found from reputable sources, such as the National Cancer Institute (NCI), the American Cancer Society (ACS), and the Leukemia & Lymphoma Society.

Frequency

Chronic myeloid leukemia (CML) is a rare type of cancer that affects the bone marrow and blood. It is estimated that CML accounts for approximately 15-20% of all adult leukemia cases.

CML occurs when there is a genetic abnormality in the bone marrow cells, causing them to produce too many immature white blood cells, called blast cells. These blast cells do not function properly and crowd out healthy blood cells, including red blood cells, platelets, and mature white blood cells.

Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.

The frequency of CML varies among different populations. It is more common in adults than in children, and the incidence increases with age. The condition is slightly more common in males than females.

CML is often diagnosed during the chronic phase, when the disease is stable and may not cause any noticeable symptoms. If left untreated, the disease can progress to an accelerated phase and then to the blast phase, where the number of blast cells in the blood and bone marrow increase significantly. The blast phase is associated with a poor prognosis.

To support patients with CML, there are various resources available. These include support groups, advocacy organizations, and online forums where patients and their families can connect with others facing similar challenges. These resources provide additional information about the condition, treatment options, and ongoing research studies.

Scientific research studies and clinical trials are ongoing to learn more about the causes and mechanisms of CML. The discovery of a specific genetic abnormality called the Philadelphia chromosome, which involves the fusion of genes called BCR and ABL1, has greatly advanced our understanding of the disease. The Philadelphia chromosome is present in 95% of patients with CML.

If you are interested in learning more about the frequency, inheritance, or other aspects of CML, there are various sources that provide detailed information. Some reliable resources include scientific articles from PubMed, genetic databases like OMIM, and catalogs like the ClinicalTrials.gov database.

References:

  • National Cancer Institute. (n.d.). Chronic Myeloid Leukemia Treatment (PDQ®)–Patient Version. Retrieved from https://www.cancer.gov/types/leukemia/patient/cml-treatment-pdq
  • Chronic Myelogenous Leukemia. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6252/chronic-myelogenous-leukemia

Causes

Chronic myeloid leukemia (CML) is a type of cancer that starts in the bone marrow and affects the blood cells. The exact cause of CML is not known, but several factors have been identified that may contribute to the development of this condition.

Research studies have suggested that CML is caused by a genetic mutation, specifically a rearrangement of chromosomes in the bone marrow cells. This mutation, known as the Philadelphia chromosome, results from a translocation between chromosomes 9 and 22. The abnormal fusion of genes called BCR and ABL1 on these chromosomes causes the bone marrow cells to produce too many white blood cells, red blood cells, and platelets.

In addition to the Philadelphia chromosome, other genetic abnormalities have been associated with the development of CML. Mutations in genes such as TP53 and RUNX1 have been found to be present in some cases of CML. Further research is needed to fully understand the role of these genes in the development and progression of the disease.

While the exact mechanisms by which these genetic abnormalities lead to the formation of CML are not completely understood, it is believed that they disrupt the normal growth and function of blood cells. This leads to the overproduction of abnormal cells and the accumulation of immature cells in the bone marrow.

Although the majority of CML cases occur sporadically, some cases can be inherited. In rare instances, CML may be passed down in families due to certain genetic mutations. Genetic counseling and testing may be recommended for individuals with a family history of the disease.

It is important to note that CML is a relatively rare condition, accounting for approximately 10-15% of all adult leukemias. The frequency of CML varies among different populations and ethnic groups.

To learn more about the causes of chronic myeloid leukemia, additional scientific research studies and clinical trials are ongoing. These studies aim to further investigate the genetic and environmental factors that may contribute to the development and progression of the disease.

For more information and support about CML causes, you can visit the websites of advocacy organizations such as the Leukemia & Lymphoma Society or the Chronic Myeloid Leukemia Support Center. These resources can provide valuable information, references, and clinical trial listings.

Learn more about the genes and chromosomes associated with Chronic myeloid leukemia

Chronic myeloid leukemia, or CML, is a type of myeloid leukemia that is characterized by the presence of a specific genetic abnormality, known as the Philadelphia chromosome. This abnormality involves a fusion of two genes, called BCR and ABL1, which results in the production of a protein that promotes the uncontrolled growth of white blood cells.

The Philadelphia chromosome is found in the leukemia cells of most patients with CML. It is not typically found in the normal cells of the body. The presence of the Philadelphia chromosome is a diagnostic criterion for CML and is often used to confirm the diagnosis of the disease.

Other genetic mutations and chromosomal abnormalities can also be associated with CML, although they are less common. These include mutations in genes such as ASXL1, TET2, and RUNX1, as well as chromosomal abnormalities such as trisomy 8 and monosomy 7.

See also  SOX11 gene

Research studies have shown that these additional genetic abnormalities may be associated with more aggressive forms of CML and may worsen the prognosis of the disease. Understanding the specific genes and chromosomes involved in CML can provide valuable insights into the underlying mechanisms of the disease and may lead to the development of new targeted therapies.

Patient advocacy groups and research centers are valuable resources for patients and their families seeking additional information about the genetic and chromosomal aspects of CML. Organizations such as the Chronic Myelogenous Leukemia Society and the Leukemia & Lymphoma Society provide educational materials, support services, and funding for research studies.

Clinical trials are ongoing to further investigate the genetic and chromosomal causes of CML, as well as to develop new treatments that target these specific abnormalities. Patients can find information about clinical trials on websites such as clinicaltrials.gov.

In addition to patient resources, there are various online databases and scientific literature that provide information about the genetic and chromosomal aspects of CML. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed contain articles and studies on the genes and chromosomes associated with CML, their functions, and their potential roles in disease development and progression.

It is important for patients and healthcare providers to stay informed about the latest research and findings regarding the genes and chromosomes associated with CML. By continuing to learn more about these genetic abnormalities, we can improve our understanding of the disease and develop more effective treatment strategies.

References:

  • “Chronic Myeloid Leukemia.” Genetics Home Reference. U.S. National Library of Medicine, n.d. Web.
  • “Chronic Myeloid Leukemia.” Leukemia & Lymphoma Society, n.d. Web.
  • “ClinicalTrials.gov.” U.S. National Library of Medicine, n.d. Web.
  • “OMIM – Online Mendelian Inheritance in Man.” Johns Hopkins University, n.d. Web.
  • “PubMed Central (PMC).” U.S. National Library of Medicine, n.d. Web.

Inheritance

The genetic basis of chronic myeloid leukemia (CML) lies in the abnormal genes associated with the disease. CML is caused by a specific genetic abnormality called the Philadelphia chromosome, which occurs when parts of chromosomes 9 and 22 break off and switch places. This genetic rearrangement results in the creation of a new gene known as BCR-ABL1.

The BCR-ABL1 gene is responsible for the uncontrolled growth of abnormal white blood cells in the bone marrow. These cells, called blasts, can gradually progress through different phases of CML, starting with the chronic phase and potentially worsening to the accelerated phase and then the blastic phase.

In most cases, the Philadelphia chromosome is not inherited from a parent. Instead, it is acquired during a person’s lifetime due to random genetic events. However, in rare cases, CML can be inherited in a condition called familial CML. This occurs when a person inherits a genetic mutation that predisposes them to the development of CML.

Studies have identified a small number of genes that may be associated with an increased risk of developing CML. These genes are involved in various cellular functions, such as cell growth and division, DNA repair, and immune system regulation. However, the exact mechanisms by which these genes contribute to the development of CML are not fully understood.

Genetic testing can be performed to identify these inherited mutations and provide information about a patient’s risk of developing CML. Resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center can provide additional information about specific genetic mutations associated with CML.

ClinicalTrials.gov is another valuable resource for patients and researchers seeking information about ongoing clinical trials investigating the genetics of CML and potential treatment options.

Publishing scientific articles and studies on the inheritance of CML is crucial for advancing our understanding of the disease and developing targeted therapies. PubMed is a central database for accessing these articles and studies, allowing researchers and clinicians to stay up-to-date on the latest discoveries in the field.

In conclusion, while most cases of CML are not directly inherited, a small percentage may have a genetic component. Continued research and testing are essential for identifying the underlying causes and genetic mechanisms of CML, as well as developing more effective treatments and providing support for affected individuals and their families.

Other Names for This Condition

Chronic myeloid leukemia is also known by other names including:

  • Myelogenous leukemia, chronic
  • Chronic granulocytic leukemia
  • Chronic myelogenous leukemia
  • Philadelphia chromosome-positive chronic myeloid leukemia
  • CML
  • Chronic myelocytic leukemia
  • CML, BCR-ABL1 fusion positive
  • BCR-ABL-positive chronic myelogenous leukemia
  • Leukemia, chronic myeloid
  • Leukemia, granulocytic, chronic
  • BCR-ABL positive CML
  • Ph+ CML
  • Chronic myeloid leukemia, BCR-ABL1 fusion positive
  • Philadelphia chromosome-positive CML
  • Chronic myeloid leukemia, Philadelphia chromosome-positive

These various names reflect the different aspects of the condition and the specific genetic anomalies associated with it.

Additional Information Resources

Chronic myeloid leukemia (CML) is a rare type of myelogenous leukemia that affects the bone marrow and blood. It is characterized by the presence of a genetic abnormality called the Philadelphia chromosome, which causes the overgrowth of certain types of white blood cells.

For more information about CML and its causes, symptoms, and treatment options, you can refer to the following resources:

  • The National Cancer Institute (NCI): The NCI provides a comprehensive overview of CML, including information about its frequency, inheritance patterns, and associated risk factors. They also provide access to clinical trials and research studies on CML. Visit their website at www.cancer.gov.
  • The Leukemia & Lymphoma Society (LLS): The LLS is a patient advocacy and support organization that offers resources and educational materials for CML patients and their families. They provide information about treatment options, managing side effects, and finding support groups. Learn more at www.lls.org.
  • The American Cancer Society (ACS): The ACS provides reliable and up-to-date information on various types of cancer, including CML. Their website contains articles and resources on CML diagnosis, treatment, and coping strategies. Visit their website at www.cancer.org.
  • The Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about the genetic mechanisms and inheritance patterns associated with CML. Find out more at www.omim.org.
  • The PubMed database: PubMed is a valuable resource for scientific and medical research articles. It contains a vast collection of articles on CML, covering topics such as disease mechanisms, diagnostic testing, and treatment advances. Access PubMed at www.ncbi.nlm.nih.gov/pubmed.
  • The ClinicalTrials.gov database: ClinicalTrials.gov is a registry of clinical trials from around the world. You can search for ongoing or completed trials related to CML, including studies on new treatments or therapies. Explore ClinicalTrials.gov at www.clinicaltrials.gov.

These resources can provide you with additional information, research studies, and support for patients and their families dealing with chronic myeloid leukemia. It is important to consult with your healthcare provider for personalized medical advice and treatment options.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of chronic myeloid leukemia (CML). It involves analyzing a patient’s genes to identify specific changes or mutations that may be associated with the development of the condition. This information can help clinicians understand the underlying mechanisms of CML and guide treatment decisions.

CML is caused by a genetic abnormality involving the fusion of two genes, called BCR and ABL1, on chromosome 22. This fusion gene, known as BCR-ABL1, produces a protein that leads to the uncontrolled growth of myeloid cells in the bone marrow.

See also  16p112 deletion syndrome

Genetic testing for CML involves the detection of the BCR-ABL1 fusion gene through methods such as polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH). This testing is often done using a blood or bone marrow sample from the patient.

Genetic testing can also help determine the phase of CML, which can be categorized as chronic phase, accelerated phase, or blastic phase. This information is important for treatment planning as the phase of CML affects the choice of therapies.

Genetic testing can provide valuable information about the prognosis of CML. Certain genetic variations have been associated with a higher frequency of disease progression and poorer outcomes. Understanding a patient’s genetic profile can help predict the course of the disease and guide treatment decisions.

Additionally, genetic testing can uncover rare genetic disorders that may be associated with CML or contribute to its development. This information can help clinicians provide more comprehensive care and identify potential genetic causes for a patient’s condition.

There are various resources available for genetic testing information related to CML. The ClinicalTrials.gov website provides a comprehensive database of ongoing clinical trials related to CML and genetic testing. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetics and inheritance of various diseases, including CML. PubMed is a scientific database that contains a wealth of research articles and studies on genetic testing and CML.

Patient advocacy and support organizations, like the Leukemia & Lymphoma Society and the Chronic Myeloid Leukemia Advocates Network, also provide valuable information and resources on genetic testing for CML.

In conclusion, genetic testing is essential for the diagnosis, prognosis, and management of chronic myeloid leukemia. It provides crucial information about the specific genetic abnormalities associated with the condition, its phases, and potential rare genetic disorders. By understanding the genetic basis of CML, clinicians can continue to advance their knowledge and develop targeted therapies for improved patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a centralized resource for information on rare genetic diseases. It provides valuable resources and support for patients, families, healthcare professionals, and researchers.

Chronic myeloid leukemia (CML), also known as chronic myelogenous leukemia, is a genetic condition characterized by the abnormal growth of myeloid cells in the bone marrow. It is a rare disease that affects a small number of cases.

CML is caused by a genetic abnormality known as the Philadelphia chromosome, which results from a rearrangement of chromosomes 9 and 22. This abnormality leads to the fusion of two genes, known as BCR and ABL1, and the formation of a fusion protein with abnormal function.

In the early phase of CML, called the chronic phase, the disease progresses slowly, and patients may not experience any symptoms. However, if left untreated, CML can worsen and enter an accelerated phase or blast crisis, where the number of blast cells increases rapidly.

The frequency and severity of symptoms in CML can vary among individuals. Common symptoms include fatigue, abdominal discomfort, weight loss, and easy bruising or bleeding due to low platelet counts.

Diagnosis of CML is usually confirmed through genetic testing, which can detect the presence of the Philadelphia chromosome and the BCR-ABL1 fusion gene. Other laboratory tests, such as complete blood counts and bone marrow biopsy, may also be performed to evaluate the levels and function of different blood cells.

Treatment options for CML have significantly improved in recent years. Targeted therapies, such as tyrosine kinase inhibitors, can effectively control the growth of abnormal cells and improve patient outcomes. Stem cell transplantation may be considered in some cases, particularly in patients who have not responded well to other treatments.

Research continues to uncover the mechanisms underlying CML and develop new treatment strategies. Scientific studies have provided valuable insights into the biology of CML, including the role of the BCR-ABL1 fusion protein in promoting abnormal cell growth and the mechanisms by which resistance to treatment can occur.

The Genetic and Rare Diseases Information Center offers additional resources and information about CML, including articles, references, and clinical trials. Patients and their families can find support and advocacy groups, as well as access to publications and online forums to connect with others affected by CML.

For more information about chronic myeloid leukemia, you may visit the Genetic and Rare Diseases Information Center website or refer to the following resources:

  • PubMed – A comprehensive catalog of scientific articles on CML.
  • OMIM – Online Mendelian Inheritance in Man, a database of genes and associated genetic disorders.
  • ClinicalTrials.gov – A database of ongoing clinical trials for CML treatment and research.

Patient Support and Advocacy Resources

Chronic myeloid leukemia (CML) is a rare condition that affects the normal function of bone marrow, leading to the overgrowth of certain types of white blood cells. This condition is characterized by a genetic abnormality involving a specific chromosome called Philadelphia chromosome. While the exact causes of CML are still not fully understood, it is believed to be linked to certain genetic mechanisms.

If you or a loved one has been diagnosed with CML, it is important to seek patient support and advocacy resources to better understand the condition and navigate the available treatment options. Here are some reliable resources that can provide you with additional information and support:

  • National Center for Advancing Translational Sciences (ClinicalTrials.gov): This online resource allows you to search for ongoing clinical trials related to CML treatment and testing. It can be a valuable tool to learn about the latest research studies and potential treatment options.
  • Office of Rare Diseases Research (ORDR): The ORDR provides information on rare diseases, including CML. You can find a catalog of CML-related resources, research articles, and information on clinical trials.
  • PubMed: PubMed is a database of scientific articles that can provide you with up-to-date information on CML research. It allows you to search for specific topics, such as CML genetics, mechanisms, and associated risk factors.
  • Leukemia Research Foundation: This nonprofit organization offers support for patients with CML and their families. They provide resources, information, and assistance with supporting CML patients through all phases of the disease, including the blastic transformation phase.

These resources can help you learn more about CML, understand the available treatment options, and connect with a supportive community of patients and caregivers. Remember, it is important to consult with your healthcare provider for personalized medical advice and guidance.

Citation: Additional information and references about CML can be found at the following resources:

– Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic conditions, including CML.

– American Cancer Society: Provides detailed information about CML, including its frequency, symptoms, and treatment options.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a comprehensive database that provides information on clinical research studies being conducted around the world. The database includes studies related to various diseases and conditions, including Chronic Myeloid Leukemia (CML).

By conducting research studies, scientists and clinicians aim to better understand the causes, mechanisms, and treatment options for CML. The information generated from these studies contributes to the development of new therapies and improved patient outcomes.

The clinical studies listed on ClinicalTrials.gov often have unique names or specific citation numbers that can be used for reference. These studies involve patients with CML and are conducted at various research centers and institutions globally.

See also  NR5A1 gene

Some studies focus on investigating the genetic abnormalities associated with CML, such as changes in certain genes or chromosomes. Others explore the role of specific genes or chromosomes in the growth, function, and transformation of CML cells. These studies contribute to the current understanding of the genetic mechanisms underlying the development of CML.

In addition to genetic studies, researchers also examine the impact of different treatment approaches on CML patients. These studies may evaluate the efficacy and safety of novel therapies or compare the outcomes of different treatment regimens. They contribute to the development of evidence-based treatment guidelines for CML.

ClinicalTrials.gov provides comprehensive information about each study, including its phase (i.e., the stage of testing), the location of the research center, and the criteria for participant enrollment. It also includes information about the frequency and duration of follow-up visits, the specific endpoints being assessed, and any adverse events or risks associated with the study.

By exploring the studies listed on ClinicalTrials.gov, patients, caregivers, clinicians, and advocacy groups can learn more about ongoing research in CML and the potential benefits of participating in clinical trials. The database serves as a valuable resource for obtaining information about the latest advancements in CML research and treatment options.

For more information about Chronic Myeloid Leukemia and related articles, resources, and support, additional references can be found on OMIM, PubMed, and other scientific databases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a resource that provides information on genes and diseases associated with chronic myeloid leukemia (CML), commonly known as Philadelphia chromosome-positive (Ph+) CML. This catalog compiles data from scientific studies, clinical trials, and advocacy organizations to support research and patient care in the field.

CML is a rare type of myeloid leukemia characterized by the presence of the Philadelphia chromosome, a genetic abnormality resulting from a translocation between chromosomes 9 and 22. This abnormality causes the production of an altered protein called BCR-ABL1, which leads to uncontrolled growth and proliferation of myeloid cells. CML can progress through three phases: chronic phase, accelerated phase, and blastic phase. The chronic phase is usually asymptomatic, while the accelerated and blastic phases are associated with more severe symptoms and worsen prognosis.

The Catalog includes information about genes and their functions, as well as diseases associated with CML. It provides additional resources, such as references to articles on PubMed and clinical trials listed on ClinicalTrials.gov. These resources can help researchers and clinicians learn more about the mechanisms and causes of CML and support the development of new treatment strategies.

The frequency of CML is relatively rare, accounting for around 15% of all adult leukemia cases. The condition has an inherited genetic component, but most cases are not directly inherited and occur sporadically. Testing for genetic mutations and chromosomal abnormalities is essential for the diagnosis of CML and to determine the risk of disease progression.

Patients with CML require ongoing monitoring and treatment, which may include targeted therapy with tyrosine kinase inhibitors. In some cases, when the disease progresses to the blastic phase, a bone marrow transplant may be necessary for a potential cure. Advocacy organizations and patient support groups play a crucial role in providing information and resources to patients with CML.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a comprehensive overview of the genes and diseases associated with CML. It is a valuable resource for researchers, clinicians, and advocacy organizations working towards a better understanding and treatment of this rare condition.

Scientific Articles on PubMed

Chronic myeloid leukemia (CML), also called chronic myelogenous leukemia, is a rare type of myeloid leukemia characterized by the growth and accumulation of abnormal white blood cells called myeloid blasts in the bone marrow and blood. It is caused by a genetic abnormality called the Philadelphia chromosome, which results from the loss of genetic material on chromosomes 9 and 22. This genetic abnormality leads to the overproduction of an abnormal protein called BCR-ABL, which promotes the uncontrolled growth of myeloid cells.

Scientific articles on PubMed provide valuable information on the mechanisms, causes, clinical trials, and treatment options for chronic myeloid leukemia. By referencing these articles and additional resources, clinicians and researchers can learn more about this condition and continue to advance their knowledge and understanding of CML.

Some of the key functions of scientific articles on PubMed include:

  • Providing a catalog of research studies and clinical trials on CML
  • Supporting the development of new treatment strategies and therapies
  • Exploring the genetic and molecular mechanisms underlying CML
  • Investigating the transformation of chronic phase CML to a more aggressive phase called blastic phase
  • Studying the frequency and inheritance patterns of CML
  • Investigating the role of other genes and chromosomes in the development and progression of CML

Scientific articles on PubMed also provide references to other research studies, clinical trials, and resources related to CML. These references can be used to further explore specific topics and find additional information on the condition.

In addition to scientific articles, the PubMed database also includes resources such as OMIM, ClinVar, and clinicaltrial.gov, which provide further information on the genetics, clinical manifestations, and ongoing research in CML.

In conclusion, scientific articles on PubMed play a crucial role in advancing our understanding of chronic myeloid leukemia. They provide valuable information on the mechanisms, causes, clinical trials, and treatment options for CML, and serve as important resources for clinicians, researchers, and advocacy groups working to improve patient outcomes and find a cure for this rare disease.

References

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