| Session: Myelodysplastic syndrome |
| Case number: 141 |
Submitter(s): Yaneth R. Orduz.
Clinical history
This is a 65 years old woman with persistent bicytopenia (leukopenia and anemia).
July/2005: WBC: 2360 N: 28% L: 56% M:8% Eo: 7% Bas: 1% Hb: 10.2 Hcto: 33.9% Platelet count: 335.000. Ferritin, folic ac. And Vit B12: normal.
Dec/2006: WBC: 1.940 N:43% L: 47% M: 7% Eo: 3% Hb:10.3 Hcto:31.6% Platelet count: 352.000.
Details of gross/microscopic pathology:
Dec/2005. An iliac crest-bone marrow biopsy was made and sent to our Laboratory. It was fixed in formalin.
The biopsy was short, the granulopoiesis was decreased with presence of only few mature forms of neutrophils. Megakaryocytes were hypolobated and similar to those described in the "5q- syndrome" so this diagnosis were suspected in the pathology report. The number of blasts with CD34 were less than 5% of the nucleated cells.
The bone marrow smear was diluted so megakaryocytes were not seen. Granulopoiesis showed alteration on its maturation but there was not important dysplasia. The erythropoiesis had unremarkable changes.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry on bone marrow showed decrease of normal maturation in the granulopoiesis but blasts were not increased more than 5% with CD34 and CD117.
Cytogenetics:
46, XX, del (5) (q13q33).
Molecular analysis:
Not done.
Interesting feature(s) of submitted case:
This case is illustrative of how important cytogenetic studies are in order to confirm a diagnosis that was suspected based on the megakaryocytes morphology in a patient with clinical diagnosis of Myelodysplastic syndrome. The break point in the long arm of chromosome 5 seeing in this case is not very common (q13-q33).
Proposed diagnosis:
Myelodysplastic syndrome associated with isolated del (5q) chromosome abnormality ("5q- syndrome").
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
Presentation Link
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