| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 016 |
Submitter(s): Cherie H. Dunphy.
Clinical history
A 28-month old female presents with fever and a 2-day history of worsening redness and swelling of her right lower extremity. The parents report that she has had multiple febrile illnesses since 3 months of age. She was supposedly diagnosed at the age of 19 months with juvenile myelomonocytic leukemia (JMML) in Jerusalem. They come to our instituion for further evaluation and treatment. No additional clinical information or laboratory data is available. She has received no therapy. Pertinent current medication includes an iron tablet daily.
Current CBC and differential results:
WBC count is 8,800/ul with an absolute monocyte count of 800/ul; absolute basophil count of 100/ul; and an absolute neutrophil count of 3,600/ul. Hemoglobin is 8.6 g/dl with an MCV of 83 FL and the platelet count is 124,000/ul.
Details of gross/microscopic pathology:
The peripheral blood smear reveals a leukoerythroblastosis with rare nucleated red blood cells, few myelocytes and promyelocytes, and rare blasts.
The bone marrow aspirate (Fig. 1) reveals 100% cellular marrow particles with adequate megakaryocytes, mild to moderate dyserythropoiesis, and left-shifted granulopoiesis and a few blasts. The differential count reveals 6% blasts, 3% promyelocytes, 9% myelocytes, 21% maturing granulocytes, 17% erythroid precursors, 33% lymphocytes/hematogones, 9% monocytes, and 2% eosinophils. Iron stain reveals no stainable iron and no ringed sideroblasts.
The bone marrow biopsy (fixed in 10% formalin and gently decalcified in 5% acetic acid) is confirmatory.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometric analysis of the BM aspirate reveals a hypercellular specimen (61,670/ul) with 7% of cells falling within the monocyte region. Within the monocytic cell region (Fig. 3), 88% of cells are expressing CD14 and CD33 (Fig. 4), CD11b, CD15, CD34, CD64, and HLA-Dr (Fig. 5) with significant loss of expression of CD13 (Fig. 6), and aberrant expression of CD2. Cells within a region characterized as lower side scatter mueloid cells (Fig. 7) reveal expression of CD15, CD33 (Fig. 8), CD11b, and CD64 with complete loss of expression of CD13 (Fig. 9).
ANAE stains approximately 16% of marrow cells and ANBE (Fig. 2), 30% of marrow cells.
Cytogenetics:
Routine and FISH cytogentic studies are normal.
Molecular analysis:
None.
Interesting feature(s) of submitted case:
Difficult case morphologically to diagnose as JMML, but flow cytometry results were extremely helpful, by demonstrating aberrant monocytic and aberrant myeloid cells.
Hemoglobin F levels were not available at the time of the bone marrow examination.
It was later determined that the myeloid progenitors had increased sensitivity to GM-CSF.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disorder: Juvenile myelomonocytic leukemia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Additional information from the author: Probes used for FISH study: Vysis LSI D7S486/CEP7 probe set, containing probes which hybridize to the q31 and centromere regions of chromosome 7. There was no evidence of a deleted 7q, and there were two copies of chromosome 7, consistent with a normal result.
Images:
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