| Session: Myelodysplastic syndrome |
| Case number: 192 |
Submitter(s): Daniel Baiyee, Govind Bhagat, Bachir Alobeid.
Clinical history
70-year-old male with pancytopenia. No history of malignancy or chemotherapy and no palpable splenomegaly.
CBC: WBC: 2.3x10*9/l, RBC: 2.54x10*12/l, HGB: 8.5 g/dl, HCT: 25.8%, MCV: 101.6 fl, MCHC 32.9 g/dl, MCH: 33.5pg, PLT: 44x10*9/l.Medications: No relevant medication history.
Details of gross/microscopic pathology:
Bone marrow, iliac crest, biopsy, Bouin's fixative, 30 min decal.
Normocellular marrow (40%) with moderate erythroid hyperplasia (M: E-1: 3) and left shifted myeloid maturation. Interstitial clusters of immature myeloid elements were noted, consistent with abnormal localization of immature precursors (ALIP's). Pseudo Pelger-Huet forms were seen on aspirate smears. Dyserythropoiesis was evident and normoblasts with megaloblastoid changes, nuclear budding, karyorrhectic nuclei, and coarse stippled cytoplasm were identified. No ringed sideroblasts were identified on the iron stained smear. Megakaryocytes were present in decreased numbers and showed dysplastic features (small hypolobated and large multinucleated megakaryocytes).
Immunophenotype (flow cytometry/immunohistochemistry):
Stains for glycophorin and myeloperoxidase confirmed the morphologic impression of erythroid hyperplasia and megakaryocytic dysplasia. Blasts expressing CD34+ and/or CD117+ accounted for approximately 1% of all nucleated elements and although most were seen as single scattered cells, occasional cellular doublets were observed
Flow cytometric analysis demonstrated 2.5% blasts with the following phenotype: CD34(subset)+, CD117+, HLA-DR+, CD4+, CD13+, CD33+, MPO+, CD64+, CD11c, CD16/56(partial)+ and CD14-.
Cytogenetics:
G-banded karyotype: 46,XY,t(6;9)(p23;q34)[17]/46,XY[3]
No evidence of del(20q), del(5q), del(7q) and trisomy 8, confirmed by FISH.
Molecular analysis:
Interesting feature(s) of submitted case:
The translocation t(6;9)(p23;q34) resulting in chimeric DEK/NUP214 (formerly DEK/CAN) fusion transcripts are mostly reported in cases of AML presenting with dysplastic features and basophilia. This translocation is also usually associated with an unfavourable prognosis. Only a few reports of MDS with t(6;9)(p23;q34) have been reported, mostly high grade MDS. Our case documents the 1) presence of a cytogenetic aberration that is uncommon in lower grades of MDS and 2) absence of basophilia.
Proposed diagnosis:
Refractory cytopenia with multilineage dysplasia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Panel comment: Concerns for RAEB.
PowerPoint:
Presentation Link
Images:
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