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:
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 to the above 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 in MDS-EB, fibrosis can occur in the bone marrow.
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.