Myeloproliferative neoplasms are a group of disorders characterized by the overproduction of blood cells in the bone marrow. The pathological conditions included are polycythemia vera, thrombocythemia, and myelofibrosis. Treatment may include medications or other interventions to manage symptoms and prevent complications. The assessment of the Polygenic Risk Score for myeloproliferative neoplasms is based on examining 12 gene polymorphisms.
Genetic testing for myeloproliferative neoplasms is included along with 19 other diseases in the Genetic Screening for Neoplasms and Precancerous Malformations, Polygenic Risk Score.
Causes and non-genetic risk factors
The following types of myeloproliferative neoplasms have been described: chronic myelogenous leukemia, polycythemia vera, primary myelofibrosis (or idiopathic chronic myelofibrosis), essential thrombocythemia, chronic neutrophilic leukemia, and chronic eosinophilic leukemia. The exact cause is unknown, but several factors are likely to be involved. Available studies have shown that there is usually a change in the genetic material of the bone marrow cells, with only sporadic cases occurring in families. Likewise, different factors have been described that contribute to the risk of these myeloproliferative neoplasms:
- Age: Ιt can occur at any age but is frequently diagnosed after age 50
- Very high doses of ionizing radiation, chemotherapy, or radiotherapy treatments for a previous malignant tumor
- Prolonged exposure to high levels of chemical compounds such as benzene (also present in minute amounts in cigarette smoke) or toluene
- Other myeloproliferative disorders: a small fraction of cases of myelofibrosis result from a complication of essential thrombocythemia or polycythemia vera
Symptoms
They are often symptomless and are detected accidentally during routine testing. Once symptoms occur, there is significant variability between individuals, and they progress gradually over time, including:
- Headache, dizziness, fever
- Blurred vision
- Fatigue, weakness
- Bruising, petechiae (red spots under the skin), frequent bleeding
- Unexplained weight loss
- Difficulty breathing
- Itching of the skin
- Night sweats
- Increased blood pressure
In addition, medullary fibrosis, splenomegaly, and hyperuricemia are present to a greater or lesser degree as a consequence of proliferation. Generally, the chronic course tends to evolve toward global medullary failure or, more frequently, acute leukemia.
Prevention
There are currently no guidelines available regarding the prevention of myeloproliferative neoplasms since the exact triggers are unknown. However, as for other conditions, it is advisable to follow a healthy lifestyle based on a balanced diet, regular physical exercise and avoidance of harmful habits such as smoking or excessive consumption of alcohol and other substances of abuse.
