Pathophysiology of MDS-EB2

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The page below is a sample from the LabCE course Case Studies in Hematology - Malignant WBC Disorders. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Pathophysiology of MDS-EB2

The myelodysplastic syndromes with excess blasts are broken down into two groups based on the number of blasts in the bone marrow and peripheral blood:
CriteriaMDS-EB1MDS-EB2
Bone marrow aspirate blast count (count>500cells) 5–9% 10–19%
Peripheral smear blast count (count >200 cells) 2–4% 5–19%
Auer Rodsabsent might be present
Some exceptions exist, particularly genetic changes that may put them in Acute Myeloid Leukemia (AML), even if the blasts are slightly fewer than 20% (20% typically places the disorder in the acute leukemia classification). Also, with the 2016 WHO classification, the bone marrow blast count is a percentage of all nucleated cells and is no longer a percentage of just non-erythroid cells. Another thing to note is that fibrosis can occur in the bone marrow in MDS-EB.
Our patient falls into the MDS-EB2 category. Over half of all MDS-EB patients show cytogenetic abnormalities. The most common include: del(5q), -7, del(7q) (our patient), +8, and del(20q). Slightly less than 50% do not have cytogenetic changes but rather various point mutations. Also, cytogenetic abnormalities and point mutations can be found in the same patient.