| Session: Therapy-related myeloid neoplasm |
| Case number: 057 |
Submitter(s): Judith A. Ferry.
Clinical history
The patient is a 39-year-old woman with pancytopenia.
She was well until age 34, when she presented with fatigue, weight loss, severe hypertension and headache; evaluation revealed Bence-Jones proteinuria, renal failure due to light chain nephropathy and plasma cell myeloma on marrow biopsy. She was treated with dexamethasone, thalidomide, cyclophosphamide, hemodialysis and plasma exchange, but her disease persisted.
6 months after presentation she received a non-myeloablative marrow transplant and a renal transplant; the donor was her brother. Renal disease recurred 1 week post-transplant, eventually requiring dialysis. Myeloma persisted in the marrow, despite treatment with multiple different agents, including velcade, decadron, melphalan and doxorubicin.
4 years after initial presentation, the patient was pancytopenic, and a bone marrow showed myelodysplasia (RAEB-2) as well as plasma cell myeloma. Revlimid and Vidaza were administered, but within 6 months pancytopenia worsened. CBC at that time showed: WBC:2.2, Hct: 29, Plt: 33; Differential: 16% polys, 55% lymphocytes, 19% monocytes, 10% blasts. Bone marrow biopsy and aspirate showed progression to acute myeloid leukemia (biopsy submitted).
Details of gross/microscopic pathology:
Bone marrow biopsy and aspirate
The marrow was 90% cellular. The majority of cells were large, primitive cells with vesicular nuclei and prominent nucleoli. Normal elements were markedly decreased. Also present were scattered large, atypical plasma cells (figures 1, 2, 3).
The aspirate showed 10% neutrophils and precursors, 3% erythroid, 9% lymphocytes, 4% monocytes, 1% eosinophils, 11% promyelocytes, 59% blasts, 3% plasma cells. Blasts had high N:C ratio, round and irregular nuclei, prominent nucleoli and scant cytoplasm usually lacking granules (figure 4). Few large abnormal plasma cells were present (figure 5)
Biopsy was B+ fixed and decalcified with rapid cal immuno.
Immunophenotype (flow cytometry/immunohistochemistry):
The blast population was CD33+, CD13+, CD117+, MPO+, CD14-, CD34+, HLA-DR+, CD4dim+, CD7dim+
Immunohistochemistry and in situ hybridization: Scattered plasma cells were highlighted with an immunostain for CD138 (figure 6). In situ hybridization for Ig light chains showed monotypic lambda expression by the large atypical plasma cells (figure 7); a few small mature plasma cells expressed kappa (figure 8).
Cytogenetics:
FISH with probes for X and Y chromosomes showed that 100% of cells had an XY hybridization pattern, consistent with donor origin for the leukemia. Routine karyotype showed 46XY.
Molecular analysis:
Interesting feature(s) of submitted case:
This case illustrates an example of plasma cell myeloma arising in a young woman, treated in part with bone marrow transplantation. Acute myeloid leukemia arose from donor marrow, probably related to chemotherapy given after transplant for persistent myeloma.
Proposed diagnosis:
Acute myeloid leukemia, therapy-related, arising from donor-derived marrow.
Plasma cell myeloma, persistent.
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
Presentation Link
Images:
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