| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 038 |
Submitter(s): Eapen K. Jacob, Lydia C. Contis.
Clinical history
A 61 year-old asymptomatic male presented with macrocytic anemia and thombocytosis. CBC showed: WBC 9.9x109/L, Hgb 10.7 g/dl, MCV 104.8 fl, platelets 1784 x109/L. Manual differential: neutrophils 50%, bands16%, lymphocytes 22%, monocytes 6%, eosinophils 1%, basophils 3%, metamyelocytes 2%. Three days prior to the bone marrow biopsy, he was placed on Agrylin and aspirin due to a platelet count of 1636x109/L. No hepatosplenomegaly was present on imaging. B12 and folate levels were in the normal range.
Details of gross/microscopic pathology:
The peripheral blood smear (Wright) demonstrated a thrombocytosis with rare large platelet forms, occasional teardrop cells and a left shift (fig.1). A bone marrow aspirate (Wright-Giemsa) and core biopsy (B+ fixative) were also performed. The bone marrow was hypercellular for age (80-90%). The myeloid to erythroid ratio was increased (6.2). Blasts accounted for 0.3% of the cells by manual differential count. Megakaryocytes were present in increased numbers. Large aggregates and clusters of small and large megakaryocytes were present (fig. 4 and 5). Some of the large megakaryocytes were hyperlobulated and demonstrated nucleoli (fig. 2 and 5). Stainable iron (Prussian blue) was present in the aspirate and ringed sideroblasts(23%) were identified (fig 3). Reticulin staining of the biopsy demonstrated increased reticulin fibers (fig. 6). A well circumscribed nonparatrabecular small lymphoid aggregate was present.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry studies (bone marrow) demonstrated 1% CD34 (+), CD13/33(+) myeloblasts, maturing granulocytes, heterogeneous T-cells and polyclonal B-cells. Immunohistochemical staining performed on the biopsy indicated that the lymphoid aggregate was comprised of a mixture of CD3 (+) and CD20 (+)cells. CD34 immunohistochemical stain demonstrated rare positive cells.
Cytogenetics:
Bone marrow: 46, XY. Fluorescence in situ hybridization testing was negative for deletion 5q, monosomy 7, trisomy 8, trisomy 9, deletion 20q12 and the BCR/ABL gene rearrangement.
Molecular analysis:
Bone marrow: positive for JAK2 V617F mutation by PCR analysis.
Interesting feature(s) of submitted case:
This case represents an example of refractory anemia with ringed sideroblasts associated with marked thrombocytosis, an entity which has recently been shown to be frequently positive for the JAK2 V617F mutation. The patient has responded well to Agrylin and currently has a platelet count of 364 x 10-9/L.
Proposed diagnosis:
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (myelodysplastic/myeloproliferative disease, unclassifiable).
Panel diagnosis:
CIMF/PMF with ringed sideroblasts
Comments:
Images:
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Figure 6 |
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