| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 111 |
Submitter(s): Curtis A. Hanson, Janice M. Hodnefield.
Clinical history
A previously healthy 71 year old white male presented with increasing fatigue and easy bruising on his extremities. Mild splenomegaly was noted on physical examination. A marked thrombocytopenia was identified.
CBC Hgb: 13.6 g/dL; WBC: 12.4 x10(9)/L; PLT: 8 x10(9)/L
WBC Differential (%): Neutrophils 76; lymphocytes 17; monocytes 3; eosinophils 2; basophils 1; myelocytes 1.
Details of gross/microscopic pathology:
The peripheral blood smear showed moderate anisopoikilocytosis. There was a prominent neutrophilia with minimal left shift. No monocytosis was seen. The bone marrow aspirate and biopsy (B5 fixed; acid decal) were hypercellular (80%). There was a marked granulocytic and monocytic hyperplasia. Erythroid precursors and megakaryocytes were decreased. Dyserythropoiesis and dysmegakaryopoiesis were identified. No increase in blasts was seen. In the marrow biopsy, there were scattered monocytic nodules identified.
Cytochemical and other stains:
An iron stain on the aspirate specimen showed no ringed sideroblasts. Combined butyrate esterase /chloroacetate esterase cytochemical studies on the aspirate specimen showed increased numbers of butyrate esterase-staining monocytes with some dual esterase-staining cells present.
Immunophenotype (flow cytometry/immunohistochemistry):
Immunohistochemical stains were performed on paraffin-embedded sections of bone marrow biopsy using antibodies against the following antigens: hemoglobin, myeloperoxidase, CD61, CD34, CD123, CD68, and CD163. These stains confirmed the increase of monocytes in the bone marrow. The CD123 stain highlighted the scattered monocytic nodules. The CD34 stain showed only rare interstitial blasts.
Cytogenetics:
Cytogenetic studies performed on the bone marrow specimen showed a normal karyotype: 46,XY.
Molecular analysis:
Genomic DNA from the 3' exon of the nucleophosmin1 gene was amplified by PCR and sequenced. A tetranucleotide TCTG duplication was detected, which has been previously identified in some nucleophosmin-1 gene mutation-positive acute myeloid leukemia.
Interesting feature(s) of submitted case:
This case demonstrates a classification difficulty based on current WHO criteria for those apparent CMML's in which no peripheral blood monocytosis is present yet there is an obvious and prominent mature monocytic proliferation in the bone marrow. The finding of nodules of plasmacytoid monocytes in marrow biopsies can also be a helpful diagnostic feature in CMML.
Nucleophosmin mutations are unusual in the myelodysplastic syndromes and have only been identified in rare cases of chronic myelomonocytic leukemia. This finding is uncertain as to its ultimate clinical significance. This patient ultimately transformed into an acute myelomonocytic leukemia ten months after this initial bone marrow was obtained.
Proposed diagnosis:
Myelodysplastic syndrome/myeloproliferative disease, chronic myelomonocytic leukemia.
Panel diagnosis:
Evolving acute myeloid leukemia
Comments:
Stains performed by the panel: CD34, CD117 and CD123 within normal limits. Additional information from the submitter: Bone marrow differential count: segs and bands 32, metamyelocytes 8, myelocytes 9, promyelocytes 1, eosinophils 0, basophils 0, blasts 4, normoblasts 28, monocytes 12, lymphocytes 6, plasma cells 0.
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