Study points to a promising new test for myelodysplasia, a blood disorder often leading to leukemia


A report to be published in the April 6th edition of the Proceedings of the National Academy of Sciences and appearing online the week of March 29th describes a promising new test for the early diagnosis of a serious blood disorder that can lead to bone marrow failure and acute myelogenous leukemia. Myelodysplastic syndrome (MDS), diagnosed in about 15,000 to 20,000 people a year, occurs mainly in patients over 60 years of age. Those who do not develop acute leukemia may later go on to die from infection or bleeding. Treatment options are not always successful, but are improved with early diagnosis.

However, it is often difficult to distinguish MDS from readily treatable, nonmalignant forms of bone marrow disease. Thus, the absence of a reliable test to accurately diagnose MDS may preclude appropriate therapy and threaten patient health.

Using Fourier transform-infrared (FT-IR) spectroscopy to analyze changes in DNA structure, lead author, Donald C. Malins, Ph.D., D.Sc. and colleagues at the Pacific Northwest Research Institute in Seattle, in collaboration with Jerry L. Spivak, M.D., a Professor in the Hematology Division at Johns Hopkins University School of Medicine, developed statistical models for identifying those patients having MDS, or having a high risk for the disease.

The new test is readily performed on white cells (granulocytes) extracted from a small volume of the patient's blood. The DNA is analyzed by FT-IR spectroscopy in conjunction with statistical models.

The FT-IR technology has been successfully applied to the early prediction of breast and prostate cancer in the Malins laboratory, and has the potential to diagnose a variety of other human diseases. "The DNA test for MDS is highly predictive and most promising," said Malins, who is member of the National Academy of Sciences. "We believe that a study with a larger number of samples will validate our initial findings and thus pave the way for clinical application."

Spivak noted that the new DNA test is the first molecular marker capable of distinguishing MDS patients as a group from patients with nonmalignant bone marrow disorders. "Currently available markers are applicable in less than 50% of MDS patients," he said.

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Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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