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Myeloproliferative Neoplasms

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The different myeloproliferative neoplasms

Essential thrombocythemia

Polycythemia Vera

Primary Myelofibrosis

Essential thrombocythemia

Polycythemia Vera

Primary Myelofibrosis

Comprendre les néoplasies myéloprolifératives

Myeloproliferative Neoplasms (MPNs) are blood disorders caused by a genetic abnormality affecting blood cell production. Although considered blood cancers, their severity is often lower.

There are three main subtypes of MPNs:

Essential Thrombocythemia (ET): Increased production of platelets. About 2,000 new cases per year in France; this is the most common MPN.

Polycythemia Vera (PV): Increased production of red blood cells. About 1,000 new cases per year in France.

Primary Myelofibrosis (PMF): The increase can affect red blood cells, white blood cells, or platelets and is accompanied by bone marrow fibrosis (a type of scar tissue that gradually replaces normal bone marrow cells). About 500 new cases per year in France.

The diagnosis of an MPN is based on a series of tests that help define your disease as precisely as possible and allow your healthcare team to recommend the most appropriate monitoring and treatment.

The results help determine the subtype of your MPN:

  • Blood tests: a complete blood count (CBC) can be performed, sometimes accompanied by an isotopic measurement of blood volume.

  • Abdominal ultrasound: to assess the size of the spleen.

  • Bone marrow biopsy

  • Genetic analysis: can also be performed from the blood sample.

These diseases can be completely asymptomatic. In such cases, they may be discovered by chance through an abnormality in a blood test. When symptoms are present, they can be very varied and not necessarily specific, including: fatigue, headaches, visual disturbances (phosphenes), hearing disturbances (tinnitus), itching (especially during or after a shower), burning sensations and redness of the hands or feet (erythromelalgia), abdominal heaviness, enlarged spleen (splenomegaly), spleen pain, unexplained weight loss, profuse sweating (especially at night), bone pain, leg pain revealing a blood clot (deep vein thrombosis).

 

 

 

Ces maladies peuvent être totalement asymptomatiques. Dans ce cas, elles peuvent être découvertes par hasard, grâce à une anomalie lors d’une prise de sang. Quand ils sont présents, les symptômes peuvent être très variés et pas nécessairement spécifiques : fatigue, maux de tête, manifestations visuelles (phosphènes), manifestations auditives (acouphènes), démangeaisons (en particulier pendant ou après une douche), sensations de brûlure et rougeur des mains ou pieds (érythromélalgies), pesanteur abdominale, augmentation de la taille de la rate (splénomégalie), douleurs de rate, perte de poids inexpliquée, sueurs profuses (en particulier la nuit), douleurs osseuses, douleurs d’une jambe révélatrice d’un caillot veineux (phlébite) …

 

Treatment of Myeloproliferative Neoplasms

  • Managing Your Symptoms
  • Preventing long-term complications: such as thrombosis (blood clots that block arteries or veins), bleeding, or progression of the MPN into a more aggressive blood disorder (such as acute leukemia).

Depending on the subtype of MPN you have, the treatment offered to you will be different.

For all patients:

  • Control cardiovascular risk factors (blood pressure, smoking cessation, diabetes, and cholesterol) in collaboration with your primary care physician.

  • Blood thinning: Phlebotomy (venous blood removal to quickly reduce red blood cell count) in polycythemia vera.

    Long-term antiplatelet therapy (most often aspirin) for both polycythemia vera and essential thrombocythemia.

If you are at risk of thrombosis (have had a clot before or are over 60 years old):

Reduce the high number of blood cells with cytoreductive treatments. The two main options are:

  • Hydroxyurea: taken orally once daily.

  • Peginterferon alfa-2a: administered as weekly subcutaneous injections.

If you are at low risk (the goal of treatment is to manage your symptoms, depending on which ones are present):

  • Sweating, weight loss, or enlarged spleen: JAK2 inhibitors (ruxolitinib as first-line treatment, or fedratinib and momelotinib).

  • Anemia (low red blood cell count): transfusions or treatment with EPO injections (a hormone that increases red blood cell production).

  • Risk of thrombosis: antiplatelet therapy.

If you are at higher risk (the goal of treatment is to prevent progression to a more aggressive blood disorder):

Depending on your comorbidities, age, and the availability of potential donors, a bone marrow transplant may be proposed.

If you are not eligible for this procedure, participation in a clinical trial evaluating the effectiveness of new treatments on the hematologic progression of your disease may be discussed.

Clinical research aims to improve the therapeutic management of patients. The Leukemia Institute collaborates with the Clinical Investigation Center at Saint-Louis Hospital on several therapeutic trials.

Clinical research

Rusfertide is a treatment that modulates iron absorption and availability in patients with polycythemia vera.

Bomedemstat is a treatment that interferes with the proliferation of the platelet lineage in patients with essential thrombocythemia and myelofibrosis.

Antibodies targeting the mutated CALR protein are currently being tested.

In myelofibrosis, combination therapies use drugs already approved for MPNs (ruxolitinib and peginterferon alfa-2a) or drugs with new therapeutic targets (MDM2 inhibitors, telomerase inhibitors, and molecules blocking protein transport within the cell) alongside established MPN treatments. These combinations are being studied to determine whether adding these new drugs can enhance the effect of existing therapies.

Statistical studies on the progression of patient groups (cohorts) have helped identify new clinical and molecular risk factors involved in the occurrence of thrombosis or in the progression of MPNs.

National-level collaborative studies have further helped to better define these diseases and improve their management.

Clinical research is most often conducted through scientific collaborations, bringing together clinicians, biologists, and, in the case of MPNs, the French MPN cooperative group (France Intergroup of Myeloproliferative Syndromes, or FIM).

Patient Association

The association “Vivre avec une NMP”, established in October 2021 and chaired by Ms. Karin Tourmente-Leroux, is very active in the field of MPNs. It brings together patients and their families, as well as general practitioners and MPN specialists. Its many activities aim to raise awareness of MPNs, advance medical and pharmaceutical research, and provide information and support to patients living with MPNs.

Learn more

Host foundation and founding members