GLEEVEC (imatinib mesylate) is a targeted therapy developed by Novartis, approved for the treatment of multiple cancers, including Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) and Kit (CD117)-positive gastrointestinal stromal tumors (GIST). GLEEVEC is also indicated for other rare diseases involving the abnormal growth of blood cells and certain types of skin and connective tissue cancers. As a tyrosine kinase inhibitor, GLEEVEC works by blocking the activity of specific proteins that promote the growth of cancer cells.
Myelodysplastic Syndrome (MDS) is a group of hematologic disorders characterized by ineffective and dysplastic blood cell production within the bone marrow, leading to cytopenias (low blood cell counts) such as anemia, neutropenia, and thrombocytopenia. This results in symptoms like fatigue, increased susceptibility to infections, and easy bruising or bleeding. MDS primarily affects older adults and is often diagnosed through blood tests and bone marrow biopsy, revealing abnormal and immature blood cells. The disorder can vary in severity and risk of progression to acute myeloid leukemia (AML). Treatment options include supportive care, such as blood transfusions and growth factors, as well as disease-modifying therapies like hypomethylating agents and, in some cases, hematopoietic stem cell transplantation.
Myeloproliferative Diseases (MPDs), also known as Myeloproliferative Neoplasms (MPNs), are a group of disorders characterized by the overproduction of one or more types of mature blood cells in the bone marrow. This can lead to elevated levels of red blood cells, white blood cells, or platelets, depending on the specific type of MPN, which includes polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Symptoms vary by subtype but can include headaches, dizziness, itching, fatigue, splenomegaly (enlarged spleen), and an increased risk of blood clots or bleeding. MPNs are often associated with genetic mutations, such as JAK2, CALR, or MPL. Diagnosis involves blood tests, genetic testing, and bone marrow biopsy. Treatment focuses on managing symptoms and reducing the risk of complications, using therapies like phlebotomy, low-dose aspirin, cytoreductive agents, and targeted therapies such as JAK inhibitors.
In Myelodysplastic Syndrome (MDS), companion diagnostic testing plays a critical role in identifying patients who might benefit from targeted therapies such as GLEEVEC (imatinib mesylate). While GLEEVEC is not commonly used for MDS, it can be considered for cases involving specific genetic mutations, particularly those involving the PDGFRA or PDGFRB genes. Diagnostic tests, including genetic sequencing and fluorescence in situ hybridization (FISH), are employed to detect these mutations. If a patient’s MDS is found to involve these genetic alterations, GLEEVEC can be prescribed to inhibit the activity of the aberrant tyrosine kinase pathways, providing a more targeted and effective treatment approach.
In Myeloproliferative Diseases (MPDs) or Myeloproliferative Neoplasms (MPNs), companion diagnostic testing is essential for determining the suitability of GLEEVEC (imatinib mesylate) as a therapeutic option. Specifically, GLEEVEC is effective in treating patients with chronic eosinophilic leukemia or other MPNs characterized by rearrangements of the PDGFRA or PDGFRB genes. Genetic tests, including polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH), are used to identify these specific rearrangements. By confirming the presence of these genetic alterations, companion diagnostic testing ensures that GLEEVEC is prescribed to patients who are most likely to benefit from the therapy, thereby improving treatment outcomes and minimizing exposure to ineffective treatments.
The ordering physician must register with the Institutional Review Board (IRB) for the PDGFRB FISH testing for Gleevec eligibility in MDS/MPD. Go to www.aruplab.com/PDGFRB to obtain IRB registration online.
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