| Session: Therapy-related myeloid neoplasm |
| Case number: 032 |
Submitter(s): Dahua Zhang, Jeffrey H. Malik, Brad S. Kahl, Ken H. Young.
Clinical history
The patient was a 77-year-old female with a history of Hodgkin lymphoma in 1997 and DLBCL in 2000 with complete remission. Beginning in 2005, she developed worsening anemia and thrombocytopenia. The marrow evaluation revealed erythroid dysplasia and dysmegakaryopoiesis. A 5q deletion along with additional 7q chromosome abnormality was identified. A diagnosis of therapy-related myelodysplastic syndrome was rendered. She responded initially to erythropoietin in regard to her anemia, but later developed neutrophilia and thrombocytopenia. She was then treated with lenolidomide, but did not show response. By late 2006, her blood counts showed a WBC of 39.4 (5% neu, 22% lym, 11% mono, 12% eo, 40% baso, 6% immature granulocytes, and 4% blasts), Hgb 8.5, HCT 28, and a platelet count of 34,000.
Details of gross/microscopic pathology:
Peripheral smear revealed normocytic anemia, lymphocytosis, monocytosis, eosinophilia, basophilia, thrombocytopenia and 4% blasts. Frequent schistocytes, elliptocytes and red cell fragments with occasional hypogranular neutrophils were seen.
Bone marrow aspirate (left iliac) showed many cellular particles and scattered megakaryocytes with dysplastic morphology. The erythroid precursors were decreased, whereas the myeloid cells were markedly increased and exhbited progressive maturation. Several erythroid precursors revealed irregular nuclear contours and nuclear fragmentation. Blasts were counted at 4%. Eosinophils and basophils were markedly increased with normal morphology.
The core biopsy showed marked hypercellularity (95-100%) with myeloid hyperplasia and erythroid hypoplasia. Megakaryocytes were also increased with numerous hypolobated and denuded forms.
Immunophenotype (flow cytometry/immunohistochemistry):
Immunostains for CD34 and CD117 revealed increased CD34- or CD117-positive progenitor cells. A reticulin stain showed a moderate, patchy increase in reticulin fibers.
Cytogenetics:
Conventional cytogenetics: 44-47, XX,-4,del(5)(q11.2q33),-6,r(6)(p12q27),-8,?psu dic(8)t(8;?)(q22;?),der(10)t(6;10)(p12;q25),-12,-18,-21,+mar1,+1-4mar[cp20]. In comparison to previous MDS marrow specimen, additional structural and numerical abnormalies involving chromosomes 6, 8, 10, 12, and 18 were identified with indication of a clonal progression.
Molecular analysis:
The BCR/ABL fusion was not detected by fluorescent in situ hybridization. JAK-2 V617F mutation analysis was negative.
Interesting feature(s) of submitted case:
The current biopsy exhibited dramatic changes with features combining both myelodysplastic and myeloproliferative disorders, suggesting an evolution of MDS into an advanced stage with myeloproliferative features.
Proposed diagnosis:
Markedly hypercellular marrow (95-100%) with dyserythroid hypoplasia, myeloid and dysmegakaryocytic hyperplasia, 4% blasts, increased eosinophils and basophils evolving into myelodysplastic/myeloproliferative disorder.
Panel diagnosis:
Therapy-related MDS/MPD
Comments:
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