| Session: Myelodysplastic syndrome |
| Case number: 161 |
Submitter(s): Friederike H. Kreisel.
Clinical history
This is a case of a 80-year old man who presented to his primary care physician with increasing fatique. He was on no medications at the time of his office visit. His CPC was significant for pancytopenia: WBC: 3.3 x 103/mcl, hemoglobin 8.2 g/dl, hematocrit 23.5%, and platelets 107 x 103/mcl. His red cell distribution width was 22.1. Serum iron profile showed a normal iron of 79 mcg/dl, a normal total binding capacity of 262 mcg/dl, and a normal transferrin saturation of 30%. Serum erythropoietin levels were increased at 37.8 mUnits/ml. A bone marrow biopsy was obtained.
Details of gross/microscopic pathology:
Several cores of a left posterior iliac crest bone marrow biopsy were received in 10% buffered formalin measuring 0.8 cm in largest length. The specimen was decalcified in EDTA.
Microscopic examination of both the core biopsy and the corresponding Wright-Giemsa stained aspirate revealed a markedly hypercellular marrow with an inverted myeloid to erythroid ratio of 1:3. Dyserythropoietic features included abnormal nucleation, Howell-Jolly bodies and ringed sideroblasts. Dysplastic granulocytic changes included hypolobation and hypogranulation, as well as rare giant forms. Megakaryocytes were predominantly small and hypolobated.
Immunophenotype (flow cytometry/immunohistochemistry):
Prussian Blue stain on aspirate showed ringed sideroblasts (~15%).
Cytogenetics:
46,XY,del(20)(q11.2)[12]/46,XY[8].
Molecular analysis:
N/A.
Interesting feature(s) of submitted case:
Illustrative case of a myelodysplastic syndrome with ringed sideroblasts and associated cytogenetic abnormality del(20q).
Proposed diagnosis:
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts (~15%).
Panel diagnosis:
agree with proposed diagnosis
Comments:
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