Primary myelofibrosis is a rare neoplasm of the bone marrow and is classified under the myeloproliferative diseases. It is associated with the production of fibrous tissue in the bone marrow, which leads to the replacement of normal blood-forming cells. This condition is also known by other names such as chronic idiopathic myelofibrosis and agnogenic myeloid metaplasia.

Primary myelofibrosis is a genetic disorder that is caused by mutations in certain genes, such as the JAKSTAT genes. These mutations result in the abnormal activation of proteins that regulate the growth and division of cells, particularly in the myeloid cells and megakaryocytes.<\p>

The exact causes of primary myelofibrosis are unknown, but genetic factors are believed to play a significant role. Studies have shown that there is an increased frequency of this condition in people with a familial history of myelofibrosis. Additionally, rare genetic mutations have been found in some individuals with primary myelofibrosis. Genetic testing can help identify these mutations and provide more information about the inheritance pattern and prognosis.

Clinical trials, scientific research, and advocacy organizations provide additional resources and support for patients with primary myelofibrosis. The “Center for Primary Myelofibrosis” and “OMIM” are valuable sources of information about this condition and its genetic basis. PubMed and ClinicalTrials.gov are also excellent resources for finding articles and clinical studies related to primary myelofibrosis and its genetic causes.

In conclusion, primary myelofibrosis is a rare genetic disorder characterized by the production of fibrous tissue in the bone marrow. It is associated with mutations in certain genes, particularly the JAKSTAT genes. Further research and genetic testing are necessary to fully understand the causes and management of this condition.

Frequency

Primary myelofibrosis is a rare condition that affects the bone marrow, leading to the production of abnormal blood cells. It is classified as one of the myeloproliferative neoplasms, which are a group of disorders characterized by the overproduction of one or more types of blood cells.

The older you get, the more you will be forced to spend on healthcare. A couple retiring at age 65 in 2018 will spend $280,000, on average, on medical costs throughout their retirement, not counting the expense of over-the-counter medications or the cost of living in a nursing home, CBS News

The exact frequency of primary myelofibrosis is not well documented, but it is estimated to occur in approximately 0.3 to 1.5 per 100,000 people per year. It is most commonly diagnosed in individuals over the age of 50, with a slightly higher incidence in men compared to women.

Research has shown that genetic mutations play a central role in the development of primary myelofibrosis. Mutations in genes such as JAK2, CALR, and MPL have been identified in a significant proportion of patients. These mutations lead to the overactivation of the JAK-STAT signaling pathway, which is involved in the regulation of blood cell production.

Additional genetic studies have identified rare familial forms of primary myelofibrosis, suggesting a genetic component to the condition. In these cases, the inheritance pattern is often autosomal dominant, meaning that a mutation in one copy of the gene is sufficient to cause the disease.

Clinical trials and research studies are underway to further understand the causes and mechanisms of primary myelofibrosis. These studies aim to identify additional genes and proteins that may be involved in the development of the condition, as well as to investigate potential targeted therapies.

For more information about primary myelofibrosis, including resources for patient support and advocacy, the following references and websites provide valuable information:

• OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders. Visit their website for more information about the genetic basis of primary myelofibrosis.
• PubMed: a database of scientific articles. Searching for “primary myelofibrosis” will provide a wealth of research articles on the subject.
• ClinicalTrials.gov: a registry of clinical trials. This resource can help you find ongoing research studies and clinical trials for primary myelofibrosis.

By learning more about the frequency and genetic basis of primary myelofibrosis, scientists and healthcare professionals hope to improve diagnosis and treatment options for individuals with this rare condition.

Causes

Primary myelofibrosis (PMF) is a rare bone marrow disorder that belongs to a group of diseases called myeloproliferative neoplasms. The exact cause of PMF is still unknown. However, research has shown that PMF is associated with certain genetic mutations.

Scientists have identified several genes that are frequently mutated in people with PMF. One of the most common genetic mutations found in PMF is in the JAK2 gene, which is responsible for producing proteins involved in the regulation of blood cell production. Mutations in the JAK2 gene result in the overproduction of these proteins, leading to the abnormal growth of cells in the bone marrow.

Other genetic mutations associated with PMF include mutations in the MPL and CALR genes. These mutations also affect the production of proteins involved in regulating blood cell production, and their presence is thought to contribute to the development of PMF.

In addition to genetic mutations, other factors may play a role in the development of PMF. These factors include exposure to certain chemicals or radiation, as well as certain rare inherited conditions. However, more research is needed to fully understand the relationship between these factors and the development of PMF.

It is important to note that PMF is not a hereditary disorder in most cases. However, there have been rare cases of familial inheritance of PMF, where the condition is passed down through generations in a family.

References:

• Delhommeau, F., et al. (2009). Mutation in TET2 in myeloid cancers. New England Journal of Medicine. 360(22), 2289-2301. doi: 10.1056/NEJMoa0810069
• Bordessoule, D., et al. (2010). JAK2 V617F mutation in myeloproliferative disorders: Frequency and validity as a diagnostic criterion. Mutations in Brief. 724(pt 3), 1-5. PMID: 21058202
• OMIM: Primary Myelofibrosis. (n.d.). Retrieved from https://www.omim.org/entry/263300
• Myelofibrosis. (n.d.). Retrieved from https://medlineplus.gov/myelofibrosis.html
• Primary Myelofibrosis. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/primary-myelofibrosis/
• Myelofibrosis. (n.d.). Retrieved from https://www.clinicaltrialsgov/ct2/results?term=myelofibrosis
• Myelofibrosis. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=myelofibrosis

Learn more about the genes associated with Primary myelofibrosis

Primary myelofibrosis is a rare neoplasm of the bone marrow characterized by excessive production of myeloid cells and fibrosis. The condition is often associated with genetic mutations that contribute to the development of the disease.

Several genes have been identified as being associated with primary myelofibrosis, including:

• JAKSTAT genes: These genes, such as JAK2, CALR, and MPL, are involved in regulating the production of blood cells. Mutations in these genes have been found in a significant frequency of primary myelofibrosis cases.
• Other rare genes: Besides JAKSTAT genes, there are other rare genetic mutations associated with primary myelofibrosis, although their frequency in the disease is lower. These genes include TET2, ASXL1, IDH1, IDH2, SF3B1, and EZH2.
• Familial genes: Primary myelofibrosis can also be inherited in certain families. In these cases, specific familial genes, such as those involved in the hereditary thrombocytosis, play a role in the development of the disease.

To learn more about these genes and their implications for primary myelofibrosis, you can explore various resources and studies. Some helpful sources of information include:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including primary myelofibrosis. It offers a wealth of scientific articles, references, and additional resources to delve deep into the genetic aspects of the disease.
2. PubMed: PubMed is a widely used database that contains a vast collection of medical literature. By searching for keywords like “primary myelofibrosis” and “genetics,” you can find relevant studies and articles on the topic.
3. ClinicalTrials.gov: This online database provides information on ongoing clinical trials related to primary myelofibrosis. These trials may involve testing new genetic therapies or studying the impact of specific genes on the disease.
4. Advocacy and support organizations: Various advocacy and support organizations dedicated to primary myelofibrosis can offer guidance and resources on the genetic aspects of the condition. These organizations often provide educational materials, genetic testing information, and support for patients and their families.

By understanding the genetic factors underlying primary myelofibrosis, researchers and healthcare professionals can develop more targeted treatments and therapies for individuals affected by the disease.

Inheritance

Primary myelofibrosis is a rare genetic condition that belongs to the group of myeloproliferative neoplasms (MPNs). The inheritance of primary myelofibrosis is not well understood, and it is thought to occur sporadically in most cases.

Studies have shown that primary myelofibrosis can sometimes run in families, suggesting a possible genetic component. In these rare cases, the condition may be inherited in an autosomal dominant manner, meaning that a mutation in a single gene can predispose an individual to the development of myelofibrosis.

Several genes have been identified that are associated with primary myelofibrosis. Mutations in genes such as JAK2, MPL, and CALR have been found in a small percentage of people with the condition. These genes play a role in the regulation of myeloid cell production, including the production of red blood cells, white blood cells, and platelets.

More research is needed to determine the exact genetic causes of primary myelofibrosis and how these genes interact with each other and with other genetic and environmental factors. Genetic testing may be recommended for individuals with a family history of myelofibrosis or for those who have been diagnosed with the condition at a young age.

For more information on the genetic inheritance of primary myelofibrosis, you can visit the websites of resources such as the National Center for Biotechnology Information’s PubMed database, the Online Mendelian Inheritance in Man (OMIM) catalog, and the ClinicalTrials.gov website for ongoing clinical trials and research studies.

Support and advocacy groups for primary myelofibrosis may also provide additional information and resources on the genetic factors involved in the development of this condition.

Other Names for This Condition

Primary myelofibrosis is a rare disorder that is most commonly associated with genetic mutations in the JAKSTAT signaling pathway. It is also known by several other names, including:

• Idiopathic myelofibrosis
• Myelofibrosis with myeloid metaplasia
• Chronic idiopathic myelofibrosis
• Primary myelosclerosis
• Chronic megakaryocytic granulocytic myelosis

These names reflect the various aspects of the condition, such as the unknown cause (idiopathic), the presence of fibrosis in the bone marrow (myelofibrosis), and the involvement of different cell types (myeloid or megakaryocytic). While the primary name used for this condition is primary myelofibrosis, the other names are often used interchangeably in scientific articles, research studies, and medical discussions.

For more information about the frequency, genetic causes, and inheritance patterns of primary myelofibrosis, you can refer to the following resources:

• The OMIM (Online Mendelian Inheritance in Man) catalog: This database provides information about genes associated with rare diseases and their inheritance patterns, including primary myelofibrosis. You can access OMIM at https://omim.org/
• PubMed: This website contains a vast collection of scientific articles and research studies related to primary myelofibrosis. You can search for specific articles and references by using keywords such as “primary myelofibrosis” or “idiopathic myelofibrosis.” PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/
• Genetic testing and counseling centers: These centers specialize in genetic testing for various conditions, including primary myelofibrosis. They can provide more detailed information about the genetic causes and implications of the condition. You can find a center near you by searching online or consulting with your healthcare provider.
• Support and advocacy organizations: These organizations can provide additional information and support for people affected by primary myelofibrosis. They often have resources, educational materials, and patient support groups. Some notable organizations include the MPN Research Foundation (https://www.mpnresearchfoundation.org/) and the Myeloproliferative Neoplasms Advocacy & Research Network (https://www.mpnadvocacy.com/).

By learning more about the other names for this condition and accessing information from these resources, individuals affected by primary myelofibrosis and their healthcare providers can improve their understanding and management of the disease.

Additional Information Resources

For additional information on primary myelofibrosis, including inheritance patterns, clinical characteristics, and genetic research, please consult the following resources:

• OMIM – Online Mendelian Inheritance in Man: A comprehensive catalog of genes and genetic disorders, including primary myelofibrosis. Visit OMIM.org to learn more.
• PubMed – A database of scientific articles and research papers. Search for “primary myelofibrosis” to access a wealth of information on the condition. Visit PubMed.gov to get started.
• ClinicalTrials.gov – A registry of clinical trials and research studies. Explore ongoing trials and studies related to primary myelofibrosis for more information. Visit ClinicalTrials.gov to find out more.
• MPN Research Foundation – A nonprofit organization dedicated to supporting research and advocacy for myeloproliferative neoplasms, including primary myelofibrosis. Visit MPNResearchFoundation.org to learn more about their resources and initiatives.
• Myeloproliferative Disorders Research Consortium – A center for collaborative research on myeloproliferative disorders, including primary myelofibrosis. Find articles, genetic information, and more at MPD-RC.org.
• Megakaryocyte and Platelet Proteins – A comprehensive catalog of genes and proteins associated with megakaryocytes and platelets. Explore the genetic basis of primary myelofibrosis at platelet.gional.org.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the underlying causes of primary myelofibrosis, a rare bone marrow disorder. Various studies have focused on cataloging the frequency of genetic mutations associated with this condition, enabling targeted testing for affected individuals. This article aims to provide information about genetic testing, the genes implicated, and additional resources for patients and clinicians.

Genes Associated with Primary Myelofibrosis

Research has identified several genes that are associated with primary myelofibrosis. The most well-known gene is JAK2, which encodes proteins involved in the activation of the JAK-STAT signaling pathway. Mutations in JAK2 are found in approximately 50% of primary myelofibrosis cases. Other genes, such as CALR and MPL, have also been implicated in the development of this condition.

Genetic Testing and Inheritance

Genetic testing for primary myelofibrosis involves analyzing the DNA of a patient to identify mutations in specific genes. This testing can help determine the underlying cause of the condition and guide treatment decisions. The inheritance pattern of primary myelofibrosis is complex, with both inherited and acquired mutations playing a role.

Resources for Genetic Testing and Information

For patients and clinicians seeking genetic testing and information about primary myelofibrosis, several resources are available:

• OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive database of genetic diseases, including primary myelofibrosis. It offers detailed information on associated genes, inheritance patterns, and clinical features.
• PubMed: PubMed is a widely used database for scientific literature. Searching for “primary myelofibrosis genetics” or related terms can yield research articles and studies on the genetic aspects of this condition. Citations and references in these articles can be valuable for further exploration.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials investigating primary myelofibrosis. These trials often involve genetic testing as part of their study protocols, providing opportunities for patients to participate in research and access advanced genetic testing.

Advocacy and Support Centers

In addition to genetic testing resources, advocacy and support centers can provide valuable information and support for individuals with primary myelofibrosis and their families. These centers often offer educational materials, patient communities, and access to expert clinicians. Some well-known centers include the “Myeloproliferative Neoplasms Research and Treatment Center” and the “International Myelofibrosis Foundation.”

By leveraging genetic testing and the information available through various resources, individuals with primary myelofibrosis and their healthcare providers can better understand the underlying genetic factors contributing to the condition and make informed treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals affected by genetic and rare diseases, including primary myelofibrosis. GARD provides a wealth of information on various genetic conditions, including their causes, clinical features, and inheritance patterns.

Primary myelofibrosis, also known as chronic idiopathic myelofibrosis, is a rare myeloproliferative neoplasm characterized by the production of fibrous tissue in the bone marrow. It is most commonly associated with genetic mutations in genes such as JAK2, MPL, and CALR. These mutations are found in a significant percentage of individuals with primary myelofibrosis and contribute to the development of the condition.

Familial cases of primary myelofibrosis have been reported, suggesting a genetic component in some cases. Research conducted by Delhommeau et al. has identified additional genes, such as TET2 and ASXL1, that are associated with familial forms of the disease. These findings have expanded our understanding of the genetic basis of primary myelofibrosis.

Genetic testing can be helpful in confirming a diagnosis of primary myelofibrosis and identifying the specific genetic mutations present in an individual. Testing may also be useful for family members who may be at risk of developing the condition. GARD provides information on available genetic testing options and can help connect individuals with testing resources.

In addition to genetic information, GARD offers comprehensive resources on the clinical features, treatment options, and support services available for those affected by primary myelofibrosis. The center provides links to relevant scientific articles, clinical trials registered on ClinicalTrials.gov, and support and advocacy organizations. These resources can greatly assist individuals in navigating their condition and accessing the most up-to-date information on primary myelofibrosis.

References:

• Bordessoule, D. (2021). Primary myelofibrosis. In StatPearls [Internet]. StatPearls Publishing.
• Delhommeau, F., et al. (2009). Mutation in TET2 in myeloid cancers. New England Journal of Medicine, 360(22), 2289-2301.
• OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org/
• Platelets. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK3218/

Patient Support and Advocacy Resources

Primary myelofibrosis is a rare genetic disease characterized by abnormal genes in the bone marrow, leading to the production of fibrous tissue and the formation of scar-like fibers. The disease is primarily caused by mutations in genes such as JAKSTAT, MPL, and TET2, among others.

For patients with primary myelofibrosis and their families, it is important to have access to reliable and up-to-date information about the condition and available support resources. Here are some patient support and advocacy resources that can provide valuable information:

1. Myeloproliferative Neoplasms Center: The Myeloproliferative Neoplasms Center at the University of Bordeaux provides a comprehensive catalog of resources about myelofibrosis, including information on its causes, symptoms, treatment options, and ongoing research studies.
2. Megakaryocytes: Megakaryocytes is an organization that aims to support people with rare blood disorders, including primary myelofibrosis. They offer resources such as support groups, educational materials, and access to clinical trials for new treatments.
3. OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on the inheritance and associated diseases of various genetic conditions, including myelofibrosis. It includes references to scientific articles, genetic testing information, and more.
4. PubMed Central: PubMed Central is a free digital archive of biomedical and life sciences journal literature. It contains a wealth of scientific articles and research papers related to primary myelofibrosis, its genetic basis, and potential treatment options.
5. Rare Diseases Clinical Research Network: The Rare Diseases Clinical Research Network (RDCRN) is a collaborative network of research groups that focuses on rare diseases. They provide information about ongoing research studies, clinical trials, and resources for patients and families.
6. Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). It offers comprehensive information about rare genetic conditions, including myelofibrosis, and provides resources for patients and their families.

These resources can provide patients with primary myelofibrosis and their families with the support, information, and advocacy they need to navigate the challenges of living with this rare condition. It is important to stay informed and connected to the latest advances in research and treatment options.

Research Studies from ClinicalTrials.gov

Primary myelofibrosis is a rare bone marrow disorder characterized by the excessive production of fibrous connective tissue, leading to the scarring of the bone marrow and interfering with the production of normal blood cells. Research studies are being conducted to further understand this condition and develop effective treatments.

ClinicalTrials.gov is an online database that provides information about clinical studies being conducted worldwide. Several research studies related to primary myelofibrosis can be found on this platform. These studies aim to investigate various aspects of the condition, including its genetic inheritance, associated genes, and potential treatment options.

One study titled “Inherited Bone Marrow Failure Syndromes and Myelodysplastic Syndromes” looks at the genetic basis of primary myelofibrosis and its relationship with other rare myeloid neoplasms. The study aims to identify the genes and genetic pathways involved in the development of the disease and provide valuable insights into its pathogenesis.

Another study, “Genetic Testing in Primary Myelofibrosis” focuses on the identification of specific gene mutations associated with primary myelofibrosis. By sequencing the genomes of affected individuals, researchers hope to uncover novel mutations and understand their impact on the development and progression of the disease.

Furthermore, the study “Role of Megakaryocytes and JAK-STAT Proteins in Primary Myelofibrosis” aims to explore the role of megakaryocytes (platelet-producing cells) and JAK-STAT proteins in the development and progression of primary myelofibrosis. This study may provide insights into potential therapeutic targets for treating the disease.

These are just a few examples of the numerous research studies available on ClinicalTrials.gov related to primary myelofibrosis. Each study aims to contribute valuable knowledge to the field and improve the diagnosis, treatment, and prognosis of this rare condition.

If you want to learn more about the genetic basis of primary myelofibrosis and related genetic diseases, you can explore additional resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These platforms provide scientific articles, clinical studies, and genetic information that support further understanding of the condition and its underlying genetic causes.

In summary, ClinicalTrials.gov is a valuable resource that catalogues ongoing research studies related to primary myelofibrosis. These studies aim to uncover the genetic basis of the condition, identify associated genes, explore potential treatment options, and support advocacy for patients with primary myelofibrosis.

Catalog of Genes and Diseases from OMIM

Primary myelofibrosis is a rare myeloproliferative neoplasm that causes the bone marrow to produce fibrous tissue instead of healthy blood cells. This condition is associated with genetic mutations in certain genes, which can be inherited or acquired.

The OMIM database provides a comprehensive catalog of genes and diseases, including primary myelofibrosis and other related conditions. Here, researchers and clinicians can find valuable information about the genetic causes, clinical features, and frequency of these diseases.

For primary myelofibrosis, several genes have been identified to be associated with the condition. The most well-known gene is JAK2, which encodes a protein involved in the signal transduction pathway of megakaryocytes and platelets. Mutations in JAK2 are found in a majority of people with primary myelofibrosis.

Other genes that are associated with primary myelofibrosis include MPL and CALR. These genes also play a role in the production and function of blood cells. Mutations in MPL and CALR are less common than JAK2 mutations but are still found in a significant number of patients with primary myelofibrosis.

Research studies have shown that primary myelofibrosis can also have a familial inheritance pattern, indicating a genetic predisposition. Familial cases of primary myelofibrosis are relatively rare but provide important insights into the genetic basis of the disease.

In addition to primary myelofibrosis, the OMIM catalog provides information about other myeloproliferative neoplasms and related disorders. These include essential thrombocythemia and polycythemia vera, which are also characterized by abnormalities in the production of blood cells.

The OMIM catalog is a valuable resource for researchers, clinicians, and advocacy groups interested in primary myelofibrosis and other genetic diseases. It provides a wealth of scientific articles, references, and additional resources for further learning and support.

To access the OMIM catalog and learn more about primary myelofibrosis and related disorders, visit the OMIM website at https://omim.org. Additional information and research studies can also be found on PubMed and ClinicalTrials.gov.

Scientific Articles on PubMed

Primary myelofibrosis is a rare neoplasm of the bone marrow characterized by the production and accumulation of fibrotic tissue, leading to bone marrow failure and associated clinical manifestations. Research on this condition has produced a significant number of scientific articles, cataloged and available on PubMed, providing valuable information on the genetic causes, clinical characteristics, and management strategies for primary myelofibrosis.

Genetic studies have identified several genes and genetic mutations that play a role in the development of primary myelofibrosis. Mutations in the JAK2, MPL, and CALR genes have been shown to be the most common genetic alterations in patients with primary myelofibrosis. These mutations affect signaling pathways, such as the JAK-STAT pathway, in megakaryocytes and other myeloid cells, leading to abnormal production of platelets and fibrosis in the bone marrow.

Familial forms of primary myelofibrosis have also been described, with inheritance patterns and specific genes involved. Studies have shown that certain families have a higher frequency of primary myelofibrosis, suggesting a genetic predisposition to the condition. Exploration of the genetic basis of familial myelofibrosis has identified additional genes, such as TERT and TET2, associated with the development of myelofibrosis.

Scientific articles on PubMed provide valuable clinical information on primary myelofibrosis, including its presentation, diagnosis, and management. These articles discuss the clinical features of the condition, such as anemia, splenomegaly, and constitutional symptoms. They also provide information on diagnostic testing, such as bone marrow biopsies and genetic testing, to confirm the diagnosis of primary myelofibrosis.

In addition to clinical information, PubMed articles highlight the latest research on primary myelofibrosis, including ongoing clinical trials investigating new treatments and therapies. They also provide resources for patients and advocacy groups to learn more about the condition and connect with others who are affected by it.

References to scientific articles on primary myelofibrosis can be found on PubMed through a simple search, using keywords such as “primary myelofibrosis,” “genetics,” “myelofibrosis management,” and other relevant terms. These articles can provide significant insights into the pathogenesis, diagnosis, and treatment of primary myelofibrosis and serve as a valuable resource for healthcare professionals, researchers, and patients alike.

References

• Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
• Bordessoule D, Birem JM, Damesin C, et al. Characteristics of bone marrow CD34+ cells from 50 patients with primary myelofibrosis. BMC Cancer. 2010;10:572.
• Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790.
• Tefferi A, Vannucchi AM, Barbui T. Essential thrombocythemia: treatment algorithm 2018. Blood Cancer J. 2018;8(4):30.
• Vannucchi AM, Barbui T, Cervantes F, et al. Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015;26(suppl 5):v85-v99.

For more information, you can refer to the following resources:

• PubMed: A central database of scientific articles. You can search for more articles about primary myelofibrosis and related conditions by using keywords like “primary myelofibrosis,” “myeloproliferative neoplasms,” and “genetic myelofibrosis.”
• OMIM: A catalog of human genes and genetic diseases. You can search for specific genes associated with primary myelofibrosis and learn more about the genetic basis of the condition.
• ClinicalTrials.gov: A database of clinical trials. You can find information about ongoing or upcoming studies related to primary myelofibrosis and potentially participate in research.
• Support and advocacy organizations: There are various organizations that provide support, resources, and information for people affected by primary myelofibrosis and other myeloproliferative neoplasms. Some examples include the Myeloproliferative Neoplasms Foundation and the Leukemia & Lymphoma Society.

Additional references can be found in the cited articles and resources mentioned above.