| Session: Therapy-related myeloid neoplasm |
| Case number: 040 |
Submitter(s): James D. Hoyer, David P. Steensma.
Clinical history
58 year old Caucasian male who in 1999 was diagnosed with AML-M4Eo with cytogenetics positive for inv (16)(p13q22). He was successfully treated with induction chemotherapy followed by autologous stem cell transplantation. Two follow-up bone marrow (BM) exams showed normal trilineage hematopoiesis with normal karyotypes. However, in 2005 a repeat BM was obtained because of steadily declining peripheral blood (PB) counts. There was no organomegaly. A CBC at the time of BM exam showed Hgb 11.4 g/dL, RBC 3.86 X 10(12)/L, MCV 89.5 fL, WBC 3.6 X 10(9)/L, Plt 62 X 10 (9)/L, with WBC differential (%) neutrophils 20 lymphocytes 40 monocytes 35 basophils 1 metamyelocytes 1 myelocytes 3. In the ensuing year following this BM exam the patient had a progressive decrease in his MCV to 74.5 fL. Iron studies during this time were normal including a normal ferritin. All previous CBC's had shown a normal MCV. A supra vital (brilliant cresyl blue) stain performed on an incubated (2 hours) PB specimen demonstrated Hemoglobin (Hb) H inclusions in many erythrocytes.
Details of gross/microscopic pathology:
The PB demonstrated a normocytic anemia with marked anisocytosis including a subpopulation of hypochromic, microcytic erythrocytes. The neutrophils showed normal granulation but there were occasional hypogranular platelets. The BM aspirate was hypercellular with an erythroid and megakaryocytic hyperplasia. Erythroid maturation was megaloblastoid and mildly dysplastic; the iron stain showed rare ringed sideroblasts. Granulocytic maturation appered normal but there were occasional dual esterase positive cells seen on the combined esterase stain (butyrate esterase/ chloroacetate esterase). There was prominent dysmegakaryopoiesis present with many small binucleated or mutlinucleated forms with disconnected nuclei. The BM biopsy (decalcified, B5 fixative) was likewise hypercellular with erythroid and megakaryocytic hyperplasia. A reticulin stain showed no increase in reticulin fibers.
Immunophenotype (flow cytometry/immunohistochemistry):
Cytogenetics:
Monosomy 7 was found in all metaphases (20/20). There was no evidence of inv (16)(p13p22).
Molecular analysis:
Molecular analysis is currently being performed to look for mutations within the ATRX gene.
Interesting feature(s) of submitted case:
Myelodysplastic syndrome associated with acquired alpha thalassemia.
Proposed diagnosis:
Myelodysplastic syndrome with multilineage dysplasia, possibly therapy related due to previous therapy for AML. The decrease in MCV with demonstration of Hb H inclusions on supravital staining is consistent with acquired alpha thalassemia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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