Welcome to Managing MDS. My name is Rami Komrokji and I am Professor of Oncologic Sciences and the Clinical Director of the Malignant Hematology Department at the Moffitt Cancer Center in Tampa, Florida. A question I get asked frequently is, “What are the tests we obtain upfront at the time of diagnosis of myelodysplastic syndromes (MDS)?” I think that is a good question, and there are two possibilities: whether the diagnosis is established, or we are working the patient for diagnosis of MDS. If I am working the patient, I want to rule out the other causes of cytopenias and macrocytic anemia, or what is considered the differential diagnosis for MDS. But if the diagnosis is established, there is certain information I want to get that is important for the patient’s staging and treatment and prognosis.
I make sure that I obtain a bone marrow aspirate and biopsy on those patients, and cytogenetics are crucial. Nowadays, at least at the time of diagnosis, we obtain data on somatic mutations by ordering next-generation sequencing, whether on peripheral blood or bone marrow. The value of the bone marrow aspirate and biopsy is to get an accurate estimate of the percentage of the blasts, the presence of the dysplasia, which is important to classify the MDS and assess risk. The cytogenetics are very crucial and so is risk assessment. We have standard fluorescence in situ hybridization (FISH) testing for MDS. This can be useful in certain cases if there are no mitotic activities in patients with deletion 5 or 7; sometimes we tend to see more detected on the FISH than regular cytogenetics. However, those could also be false-positives, so one should be careful assessing, especially if the percentage of positive cells detected on the FISH is low.
Flow cytometry could be a helpful test on the bone marrow to identify the blasts. However, a word of caution: there are always flow cytometry blast estimates that are either underestimations or overestimations of the blast percentage. And finally, somatic mutation data is complementary and can help in the diagnosis, but it has a very established role now in identifying risk-stratification, in addition to the clinical models. Once we go with the differential diagnosis testing needed, I think it is very crucial to get the bone marrow aspirate biopsy, including cytogenetics, and nowadays, to integrate somatic mutations.
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