| Session: Therapy-related myeloid neoplasm |
| Case number: 176 |
Submitter(s): Chad P. Soupir, Robert P. Hasserjian.
Clinical history
43 year old male presented with fatigue and weakness. Past medical history was significant for a diagnosis of AML 18 months previously (AML not otherwise categorized, FAB M4). He achieved complete remission following induction chemotherapy and subsequently underwent an autologous stem cell transplant. He was mildly pancytopenic, but otherwise well following transplant. 4 months previously, a bone marrow sample revealed REAB-2; cytogenetics could not be obtained. His blood counts remained stable for the next several months. A repeat bone marrow biopsy was performed (slides submitted).
CBC (two weeks following the submitted bone marrow biopsy): WBC 86.3 x 109/L (37% neutrophils, 2% lymphs, 1% monos, 1% eos, 1% baso, 5% metas, 3% myelos, 2% promyelo, and 48% blasts), Hgb 7.0 g/dL, and platelets 66 x 109/L.
Details of gross/microscopic pathology:
Original bone marrow biopsy 18 months previously was markedly hypercellular with numerous blasts with irregular, folded nuclei (Figure 1). Blast count on the marrow aspirate smear was 27% (Figure 2). 20% of the cells were strongly positive for NSE and 25% of blasts were positive for MPO, confirming acute myelomonocytic leukemia.
Review of the current peripheral smear reveals hypersegmented and hypogranular neutrophils and blasts (Figures 4-5). The current bone marrow biopsy (slides submitted) is markedly hypercellular with many small, dysplastic megakaryocytes (Figures 6-7). Blasts, some with Auer rods, comprise 9% of the aspirate smear cells (ranging from 5-15% in different areas); prominent erythroid dysplasia is noted (Figures 8-9).
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry of original AML: CD33+, CD13+, HLA-DR+, TdT+/-, CD34-, CD117+/-, MPO-, CD4dim+, CD7dim+ blasts (23% of all events).
Flow cytometry of current bone marrow sample: CD33+, CD13+, HLA-DR+, TdT-, CD34-, CD117+, MPO+/-, CD4-, CD7- blasts (6% of all events).
Cytogenetics:
Karyotype of original AML (Figure 3): 47,XY,+21[5] / 46,XY[14]
Karyotype of current bone marrow sample (Figure 10): 46,XY,der(1)inv(1)(p13q42)del(1)(q43), t(9;22)(q34;q11.2)[15] / 46,XY[5]. Metaphase FISH analysis confirmed BCR-ABL rearrangement.
Molecular analysis:
None.
Interesting feature(s) of submitted case:
The patient developed therapy-related MDS/AML about one year following autologous stem cell transplant for AML. On morphology and immunophenotype it was initially uncertain whether this represented relapse of his original AML or a secondary (therapy-related) MDS/AML. The cytogenetic differences between the two cases confirm the latter. Although rare, Philadelphia chromosome has been reported as a secondary event in myeloid neoplasms following DNA topoisomerase II inhibitors, with which this patient was treated during induction and consolidation chemotherapy.
Proposed diagnosis:
Therapy-related AML/MDS with Philadelphia chromosome.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Additional information from the submitter: PCR was not done to exclude the BCR-ABL translocation on the initial AML diagnosis for this case.
PowerPoint:
Presentation Link
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