| Session: Myelodysplastic syndrome |
| Case number: 158 |
Submitter(s): Dong Chen, Curtis A. Hanson, David P. Steensma.
Clinical history
An 86 year old man was evaluated for a persistent mild anemia and thrombocytopenia. His past medical history was significant for coronary artery disease and stroke. A bone marrow study was performed to evaluate his hematologic status.
CBC: Hgb: 13.0 g/dL; WBC: 7.7 x10(9)/L; PLT: 102 x10(9)/L
WBC Differential (%): Neutrophils 63; lymphocytes 21; monocytes 13; eosinophils 2; basophils 1.
Details of gross/microscopic pathology:
The peripheral blood smear was morphologically unremarkable. The bone marrow aspirate and biopsy were slightly hypercellular for age (40%). There was a slight erythroid and granulocytic hyperplasia, but no myeloysplasia was identified. No increase in blasts was seen. Megakaryocytes were unremarkable.
Cytochemical stains:
An iron stain was performed on the aspirate specimen showed no ringed sideroblasts. A combined butyrate esterase/ chloroacetate esterase cytochemical stain showed a normal pattern.
Immunophenotype (flow cytometry/immunohistochemistry):
Immunohistochemical stains were performed on paraffin-embedded bone marrow using the following antibodies: myeloperoxidase (MPO), CD61, CD34, and CD163. These stains showed a normal distribution of hematopoietic cells. There were only a few scattered CD34 positive blasts.
Cytogenetics:
Cytogenetic studies were performed on the bone marrow specimen. Of 20 metaphases, 4 were normal and 16 had a structurally abnormal chromosome 21; these 16 metaphases also were lacking a Y chromosome.
Molecular analysis:
FISH studies were performed on the bone marrow metaphases using ETO/AML1 fusion probe. There were 3 signals for AML1 with one signal on the distal end of chromosome 1p, consistent with a t(1;21).
Interesting feature(s) of submitted case:
This case is an example of clonal cytogenetic abnormality occurring in a bone marrow without morphologic evidence of myelodysplasia. This patient ultimately developed acute myeloid leukemia and died four years later. Although it would be easy to conjecture that the clonal cytogenetic abnormality was sufficient evidence for a myelodysplastic syndrome (MDS), WHO criteria require concurrent morphologic abnormalities. Clinical follow-up on cases such as these have shown that while some, like this case, will progress on to a bonafide MDS or acute leukemia, others will fail to show clinical features of disease progression. A complete change in the cytogenetic karyotype over time can also be seen, which further raises questions about the biological significance of these particular genetic abnormalities. Caution should be demonstrated in these cases and hesitancy in labeling these as bonafide myeloid malignancies is warranted. Nonetheless, these cases show the value of cytogenetic studies in patients who present with unexplained cytopenias.
Proposed diagnosis:
Slightly hypercellular bone marrow (40%) with no morphologic or immunohistochemical features of myelodysplasia. Clonal cytogenetic abnormality of uncertain clinical significance.
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
Presentation Link
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