The majority of patients with Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF) have a mutation in the JAK2, CALR, or MPL gene, and genetic testing is an important tool for the classification and diagnosis of these disorders. The GIAstat MPN panel rapidly and qualitatively detects mutations in JAK2, CALR and MPL genes utilizing High Resolution Melt Analysis (HRM) from a whole blood or bone marrow specimen.
In Polycythemia Vera the bone marrow makes too many red blood cells. These excess cells thicken the blood, slowing its flow, which may cause serious problems such as blood clots. Without treatment, PV can be life threatening.
In Essential Thrombocythemia (also called primary thrombocythemia) the body produces too many platelets. People with high platelet levels often don’t have signs or symptoms. When symptoms do occur, they’re often related to blood clots.
Myelofibrosis affects the blood-forming tissues in the body and is considered to be a chronic leukemia. Myelofibrosis can happen on its own (primary myelofibrosis) or it can develop from another bone marrow disorder (secondary myelofibrosis). Myelofibrosis causes extensive scarring in the bone marrow, leading to severe anemia that can cause weakness and fatigue. Bone marrow scarring can also cause a low number of blood-clotting cells called platelets, which increases the risk of bleeding. Myelofibrosis often causes an enlarged spleen.
Genetic testing prior to beginning therapy is necessary to match the treatment most likely to benefit the patient based on their specific blood cancer. Studies confirm patients with identified mutations often respond better to targeted treatment. For example, patients with a specific JAK2 mutation are eligible for JAK2 inhibitor therapy. Appropriate genetic testing affects the treatment outcomes of patients, including those with Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF). In addition to guiding optimal therapeutic decisions, genetic testing may identify patients for whom there may be contraindications to certain treatments.
Results may assist in determining eligibility for bone marrow transplant.
Patients whose germline genetic variants match one of the treatments in a clinical trial may receive that treatment if they meet the other eligibility criteria. The trials seek to determine whether treating cancer based on these specific genetic changes is effective and improves overall survival.