How Are Myelodysplastic Syndromes Diagnosed?

This content has been reviewed and approved by

Hagop M. Kantarjian, MD
Chairman & Professor, Leukemia Department
MD Anderson Cancer Center
University of Texas

To diagnose myelodysplastic syndromes (MDS) and plan treatment, a physician must evaluate the patient's bone marrow cells to determine the specific type of MDS. The cells are removed through a technique called a bone marrow biopsy, which uses a large needle to withdraw cells directly from the bone marrow. 

A special laboratory test--called a cytogenetic analysis--is conducted on the sample cells. The purpose of this test is to determine whether there are abnormalities in the DNA of the blood cells. DNA contains the genetic code for the cell, which can be thought of as the instructions for what the cell looks like, what it does, and how it grows. 

Most forms of MDS and leukemias are characterized by specific abnormalities. Identifying these provides useful information about the patient's prognosis or length of survival time.