Gene Mutation Test Diagnoses Myeloid Neoplasms

A wide range of gene mutations are associated with myeloid neoplasms, which occur when the bone marrow makes too many blood cells or platelets.

Next-generation sequencing technologies can simultaneously test for mutations in multiple genes associated with myeloid neoplasms to diagnose, sub-classify, monitor and predict the course of disease. Myeloid neoplasms are a group of hematologic malignancies that includes acute myeloid leukemia (AML), the most common form of adult acute leukemia, as well as myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs).


LeukoVantage (Quest Diagnostics; Madison, NJ, USA) is a laboratory developed test that uses next-generation sequencing, polymerase chain reaction (PCR) and other techniques to interrogate DNA from leukocytes (white blood cells) in blood or bone marrow specimens for the presence of mutations in 30 genes most frequently associated with myeloid neoplasms.

For MDS, LeukoVantage may detect certain molecular markers to help identify early stages of the disease, complementing conventional diagnostic techniques. MDS is typically diagnosed through a series of tests that include complete blood count (CBC), morphology, and cytogenetic (chromosomal) analysis. For MPN, LeukoVantage may identify molecular markers that can aid the selection of certain targeted therapies, such as Janus kinase 2 (JAK2) inhibitors, and establishing a prognosis.

LeukoVantage has also been shown to detect gene mutations in greater than 95% of newly diagnosed cases of AML. Physicians may use this information to aid in disease diagnosis and sub-classification as well as to establish a treatment plan with induction chemotherapy. In addition, LeukoVantage may aid in establishing a prognosis and in monitoring for minimal residual disease and recurring disease. In the case of both AML and MDS, LeukoVantage may also provide information for selecting epigenetic modifying drugs, which may be less toxic than inpatient chemotherapies.

Frederic Waldman MD, PhD, medical director, cancer diagnostics, at Quest Diagnostics, said, “LeukoVantage is an innovative and clinically useful lab test, but that is only part of its value. Quest Diagnostics provides a broad suite of accompanying services for diagnosing and managing patients with myeloid neoplasms. Those larger capabilities can be most useful for these and other diseases in which continuous monitoring, supported by lab tests, is vital to promote quality patient care.”

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