PMC3306229_01
Bone marrow biopsy and aspirate. (A) Low power magnification showing a hypercellular marrow for age (>90%) and Gaucher/Pseudo-Gaucher cells (arrow). (B) High power magnification showing blasts with large nuclei and prominent nucleoli. (C) High power magnification showing a dysplastic megakaryocyte with multiple small lobes seemingly disconnected. (D) High power magnification showing a dysplastic eryrthroblast with nuclear budding.
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A bone marrow biopsy revealed Refractory Anemia with Excess Blasts-2 according to the World Health Organization classification (Fig. 1).
42, XY, -3, +der(5)t(5;18)(p12;q11.2), del(7)(q21), add(8)(p23), der(9)t(9;14)(q34;q11), -11, add(12)(p13), -13, del(14)(q11), -17, add(18)(q22), der(18)t(11;18)(q14;q23), der(19)t(5;19)(p12;p12) karyotype.
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All 20 cells examined from the bone marrow aspirate had 42XY with complex cytogenetics including, t(5;18), del(7)(q21) and -17 (Fig. 2).