Myeloproliferative neoplasms (MPN) are a group of blood cancers that start in the bone marrow where blood cells are produced.^1-11 Normal blood cell production is called haematopoiesis. In MPN, too many blood cells are produced (excessive haematopoiesis), hence the name myeloproliferative (“myelo” = marrow, “proliferative” = excessive cell growth). The excessive production of blood cells may lead to complications such as a blood clot (thrombosis) or bleeding. Whilst MPN is most commonly diagnosed in people over 60, it can affect any age.²

MPNs arise due to genetic changes within blood stem cells.^3,10,11 Blood stem cells are early-stage (immature) cells in the bone marrow that can self-renew and develop into specialised blood cells such as red blood cells, white blood cells, and platelets (cells which help the blood to clot). The genetic change results in these stem cells proliferating in an uncontrolled manner, resulting in increased numbers of various blood cells according to the type of stem cell affected. The different type of MPNs are described below)

MPNs are broadly classified as Philadelphia positive (Ph+) chronic myeloid leukaemia (CML) or Philadelphia negative (Ph-) MPNs.¹²

Ph+ CML is characterised by the presence of a particular chromosomal abnormality in blood cells. In CML, parts of chromosome 9 and chromosome 22 swap places. This swap results in the formation of a new fusion gene called BCR-ABL1, which drives uncontrolled growth of immature granulocytes (white blood cells).⁵ The abnormal chromosome 22 containing the BCR-ABL1 gene is known as Ph+ chromosome, being first described in Philadelphia in the 1960s

Ph- MPNs include:^1,2

• Essential thrombocythaemia (ET) – characterised by overproduction of platelets, which are important for blood clotting. ET can be caused by genetic changes in one of three different genes (JAK2, CALR or MPL).^3,10,11 In rare cases, individuals may not have any of these genetic variants and are referred to as “triple-negative” ET.^2,5,11
• Polycythaemia vera (PV) – characterised by overproduction of red blood cells. White blood cells and platelets are sometimes also overproduced in PV.⁵ In majority of PV patients, the JAK2 gene is affected.
• Myelofibrosis (MF) – characterised by increased blood counts and build-up of scar tissue (fibrosis) in the bone marrow. This can be primary (occurs on its own) or secondary (developing from underlying ET or PV). MF may progress over time, with increasing fibrosis impairing normal blood cell production. In advanced stages, this can lead to anaemia (low red blood cell counts) and reduced platelet production (thrombocytopenia).

Rare types of MPN include:

• Chronic neutrophilic leukaemia (CNL) – characterised by overproduction of neutrophils (a type of white blood cell that fight infection). This is usually due to genetic variants within the CSF3R gene on chromosome 1.^5,6,9
• Chronic eosinophilic leukaemia (CEL) – characterised by overproduction of eosinophils (a type of white blood cell involved in allergy and infection responses)
• Juvenile myelomonocytic leukaemia (JMML) – occurs in young children, characterised by overproduction of myelocytes and monocytes (different types of white blood cell)
• Unclassifiable MPN – MPN that doesn’t fit into any specific subtypes

The types of MPN listed here are based on some of the current literature; however, it has been noted the classifications of MPN types may differ between various sources.

MPN was previously known as myeloproliferative disorder (MPD) or chronic myeloproliferative disease.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:98274 Myeloproliferative neoplasms

ICD-11: Myeloproliferative neoplasms

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias (2022)

World Health Organization (WHO) Classification of Tumours, 5th Edition, Volume 11: Haematolymphoid Tumours

Please refer to the individual types of MPN for their classifications.

The symptoms and severity of MPN varies between individuals and depend on the type of MPN.

Many patients with MPN do not have any symptoms but others may experience symptoms such as  fatigue, difficulty concentrating, abdominal discomfort, bone pain, weight loss, fever, night sweat, itchy skin (especially after exposure to water), erythromelalgia (burning pain in the hands and feet and sometimes face), bruising and bleeding, and gout.^1,2

People with MPN have an increased risk haemorrhagic events (abnormal bleeding) or blood clots (thrombosis), which can lead to stroke, heart attack, deep vein thrombosis, or pulmonary embolism (blood clots in the lungs), which can be life-threatening.^1,2,5 People with advanced MF can develop a large spleen (splenomegaly) causing discomfort on the left side of the abdomen as well as anaemia, which can contribute to fatigue.

In some people, their MPN can progress over time and transform into another type of MPN, particularly secondary myelofibrosis or less commonly, acute myeloid leukaemia (a type of cancer that affects blood and bone marrow cancer and progresses quickly).³

There may be other symptoms associated with a particular type of MPN. Please speak to your medical team to learn more about the symptoms and complications of a specific type of MPN.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

MPNs arise due to genetic changes within blood stem cells.³ In majority of patients, there is no underlying cause and the genetic change which occurs in the marrow is a random event (happens by chance).¹⁰ The risk is higher in older patients.³ There may also be increased risk of some MPNs with long-term exposure to ionising radiation or high levels of toxins such as benzene.⁵

MPN is generally not a condition which runs in the family. In very rare cases, these variants are inherited (passed down from parents to children). If there is a strong history of MPN within the family, your doctor may organise a referral to a genetic counsellor who is a qualified allied health professional who can provide information and support regarding genetic inheritance and testing. Genes associated with an increased risk of developing MPN are continually being discovered over time.⁷

Diagnosis of MPN may be made based on:^1,2

• medical history
• physical examination
• abdominal ultrasound scan
• genetic testing to look for JAK2, CALR, or MPL genetic variants or Ph chromosome
• bone marrow testing and biopsy

For people who do not have any symptoms, they may be diagnosed when they are incidentally found to have high blood counts on a blood test or when they are being investigated for another issue.

Please speak to your medical team to learn more about the available diagnostic pathways for MPN.

Treatments for MPN are targeted at managing symptoms, reducing the risk of complications (such as blood clots and bleeding), prolonging life expectancy and improving quality of life.^1,2

Treatment for MPN differs depending on the type of MPN, a person’s symptoms, severity, and if there are any complications, their age and general health (particularly their cardiovascular risk factors for heart attacks and strokes) and in consideration of their wishes.¹

Treatments may include: ^1,2

• venesection (also called phlebotomy,) where blood is drawn to reduce red blood cell count
• anti-platelet (most commonly aspirin) and/or anti-coagulant therapy that reduces stickiness of platelets and reduces the risk of blood clots^1,2
• cytoreductive therapy, which are medications that reduce blood cell counts. These include subcutaneous (under the skin) injections of pegylated interferon or oral medications such hydroxyurea and others
• therapies that specifically target the genetic changes in cancer cells: these include JAK inhibitors in Ph- MPN (such as ruxolitinib) or tyrosine kinase inhibitors in CML which block the activity of the abnormal BCR-ABL protein
• red blood and platelet transfusions for anaemia and thrombocytopenia
• management of physical symptoms such as pain and fatigue

Allogeneic stem cell transplant from a donor may be considered as a treatment option for some high-risk cases of progressive myelofibrosis; whilst it has potential to be curative, it is associated with significant risks and is not suitable for everyone.

It is also important for people patients with MPN to monitor and manage their cardiovascular risk factors such as high blood pressure, high cholesterol, and diabetes, to reduce the risk of blood clots, heart attack and strokes.^1,8 For example, maintaining a healthy diet and body weight, not smoking, avoiding or limiting alcohol intake, and regular exercise.

As some of the treatments for MPN are associated with skin cancer risk, particularly hydroxyurea and ruxolitinib it is recommended that those taking those medications to avoid excess sun exposure and have regular and vigilant skin checks.^13,14

Women with MPN may be at higher risk of pregnancy-associated complications and will require closer monitoring in pregnancy. With this care, most are able to still have a successful pregnancy.¹

In addition, people with MPN should also be monitored for their kidney and liver function, and regularly screened for other cancers such as cervical, bowel, breast, prostate, lung, and skin.^1,2

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of people with MPN may include general practitioners (GP), haematologists, radiation oncologists, cardiologists, dermatologists, cancer care coordinators, cancer nurses, physiotherapists, occupational therapists, palliative care physicians, dietitians, psychologists, fertility specialists, obstetricians, and others.¹ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Australian Government Cancer Australia: Optimal care pathways for people with myeloproliferative neoplasms is a guide for health professionals to provide optimal care and support to patients with cancer, their families and carers; updated in 2024.

Panel-based gene testing in myelodysplastic/myeloproliferative neoplasm overlap syndromes: Australasian Leukaemia and Lymphoma Group (ALLG) consensus statement was developed by an expert group actively involved in gene panel testing in the area of MDS/MPN in Australia; published in 2022.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

National Comprehensive Cancer Network Guidelines Myeloproliferative Neoplasms developed by clinicians and oncology researchers from cancer centres around United States of America, published in 2026.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

Australian Organisations:

Myeloproliferative Neoplasms (MPN) Alliance Australia (MPN AA)
Website: https://www.mpnallianceaustralia.org.au/

The MPN Alliance Australia is run by MPN patients for MPN patients. We are all volunteers. The patient-led advocacy group collaborates with the Leukaemia Foundation of Australia with the common goal of achieving better outcomes for Australian MPN patients.

Leukaemia Foundation
Website: https://www.leukaemia.org.au/

Leukaemia Foundation works to improve the lives of people affected by blood cancer.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

MPN varies between individuals, and each person’s experience is unique.

MPN Alliance Australia: Patient Stories have personal stories of people living with MPN.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Myeloproliferative Neoplasms Alliance Australia: Resources

Leukaemia Foundation: Get support has information on support services available for people with blood cancer including MPN, such as accommodation, transportation to appointments, financial, and peer support.

Rare Cancers Australia: How we help you has information on support services such as for carers, healthcare system navigation, financial, and peer support.

Cancer Council: Myeloproliferative Neoplasms Guide to best cancer care is a support resource for people living with MPN, their carers, family and friends.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Leukaemia Foundation: Emotional health and Living well with blood cancer has information and tools for emotional support.

Further information on MPN can be found at:

• Leukaemia Foundation: Myeloproliferative neoplasms (MPN) A guide for people with MPN and their support network
• MPN Alliance Australia: Understanding MPN
• Leukaemia Foundation: Myeloproliferative neoplasms (MPN)
• Rare Cancers Australia: Myeloproliferative neoplasms (MPN)
• National Comprehensive Cancer Network Guidelines for Patients: Myeloproliferative Neoplasms

Australian Government Cancer Australia: Optimal care pathways for people with myeloproliferative neoplasms

Online Mendelian Inheritance in Man, OMIM^®: #616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF

Orphanet: Myeloproliferative neoplasms

Predict Blood is an online tool to help health professionals see how a person’s blood cancer (known as myeloproliferative neoplasm, or MPN) might develop given their age, gender, health and any information that is known about genetic variations that they carry. It is an estimation tool that generates estimates based on a group of 2035 patients with MPNs who were part of a research study that investigated how variations in the genetic code of the MPNs affected how their disease progressed. The model was built as part of an academic research project. Predict Blood has not been prospectively validated and it does not make predictions – it cannot say exactly what will happen to any individual. It provides the average survival rate for people who had similar cancers.

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Myeloproliferative Neoplasms Alliance Australia (MPN AA) and input from clinical haematologist, Professor Andrew Grigg.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.