JAK2, MPL, CALR

What is it?
JAK2, MPL, and CALR is a molecular testing panel that analyzes specific mutations in three genes associated with myeloproliferative neoplasms (MPNs).

These mutations may cause continuous activation of signaling pathways that regulate the production and growth of blood cells, contributing to the development of myeloproliferative neoplasms.

What does it analyze?
The test analyzes three key genes:

• JAK2 – particularly the JAK2 V617F mutation, which is common in myeloproliferative neoplasms.
• CALR – identifies mutations in the calreticulin gene, which are found in a proportion of patients with MPNs.
• MPL – identifies mutations in the thrombopoietin receptor associated with abnormal proliferation of blood cells.

Which diseases is it used for?
The analysis helps in the evaluation of myeloproliferative neoplasms, including:

• Polycythemia Vera (PV)
• Essential Thrombocythemia (ET)
• Primary Myelofibrosis (PMF)

Identification of a relevant mutation may support the diagnostic process and help characterize the disease at the molecular level.

Why is it important?
JAK2, CALR, and MPL mutations are among the most important molecular alterations associated with MPNs.
The result may help with:

• supporting the diagnosis of a myeloproliferative neoplasm;
• differentiating MPNs from other causes of increased blood cell counts;
• molecular characterization of the disease;
• assessing the patient's profile together with clinical and laboratory findings.

When is it recommended?
Testing may be recommended in cases of:

• unexplained elevation of platelet counts;
• increased hemoglobin or hematocrit levels;
• increased blood cell counts;
• suspected myelofibrosis;
• suspected myeloproliferative neoplasm;
• evaluation of patients with persistent abnormalities in the complete blood count.

How is the test performed?
The analysis is performed on biological material containing DNA, usually peripheral blood, according to the clinical indication.
The genetic material is analyzed using molecular methods to identify the relevant mutations in JAK2, CALR, and MPL.