| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 138 |
Submitter(s): Fredrik J. Bot, Arienne Van Marion.
Clinical history
Male, 55 yrs. no relevant medical history, malignancies or chemotherapy treatment until 2004, when symptoms related to anemia developed. Symptomatic therapy (blood transfusions) was initiated. Lab (June 2006) Hb 4.8 mmol/L, Thr 75 10E9/L, leuco 2.0 10E9/L, differential 16% monocytes. In december 2006 blasts appeared in the peripheral blood. Lab (Jan 2007) Hb 4.4 mmol/L, Thr 144 10E9/L, leuco 2.1 10E9/L, differential 2% blasts, 22% monocytes. Bone marrow (Jan 2007) blasts 15%, promyelo/promono 23%, myelo 27%, metamyelo 2%, band form 10%, polymorphs 11%, lympho 7%, mono 4%, eo 2%. Based on this, the patient is now being treated with chemotherapy directed against acute myeloid leukemia.
Details of gross/microscopic pathology:
The formalin fixed, formic acid decalcified and paraffin embedded bone marrow biopsy specimen shows maximal cellularity with almost exclusively myeloid cells. The are arranged in broad rims around bone trabeculae with limited maturation towards the central marrow. There is an increase in blast number, clearly visible in the CD34 stain. Erythroid cells are conspiciously absent. Megakaryocyte number is limited and micromegakaryocytes are present (FVIII stain). Reticulin fibrosis grade 3.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry (Jan 2007): 15 % blasts, positive for CD13, CD15, CD33, CytMPO, partly CD34, CD56, CD117, CD1 and CD7.
Cytogenetics:
46XY, Del 7q(22q36), trisomy 8.
Molecular analysis:
Interesting feature(s) of submitted case:
Interesting in this case is the combination of myelodysplastic and myeloproliferative features ending in a transformation to acute myeloid leukemia.
Proposed diagnosis:
Chronic Myelomonocytic Leukemia transforming to acute myeloid leukemia.
Panel diagnosis:
Acute myeloid leukemia.
Comments:
Panel comment: For definitive diagnosis of underlying disorder review of bone marrow material from the time of initial presentation is necessary.
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