| Session: Ph- chronic myeloproliferative disease |
| Case number: 197 |
Submitter(s): Changjun Yue, Michele Hibbard, Jess Savala, Dennis P. O'Malley, Satinder Dhillon.
Clinical history
Patient has been found to have leukocytosis and eosinophilia for at least several months.
Details of gross/microscopic pathology:
Peripheral blood smear was not available for analysis.
Bone marrow core biopsy showed markedly hypercellular marrow (more than 90%) with myeloid hyperplasia with full maturation and less than 2% blasts. There are markedly increased eosinophils (about 20-25% of myeloid cell population). The marrow smears showed some of the eosinophils to display abnormal morphology.
Immunophenotype (flow cytometry/immunohistochemistry):
c-KIT Stained rare scattered myeloid precursor cells, less than 5%.
CD3 Stained interstitial individual T-lymphocytes, within normal limit
CD34 Stained rare scattered precursor cells, within normal limit.
CD61 Stained increased megakaryocytes with many small forms.
Pax - 5 Stained interstitial individual B-lymphocytes, within normal limit
CD30 Negative
Therefore, no excess blasts detected. No evidence of lymphoma including Hodgkin lymphoma or anaplastic large cell lymphoma present.
Concurrent flow cytometry showed myeloid hyperplasia with dysmaturation (increased CD56 with decreased CD10 and CD16). No excess blasts are seen (see attached pictures).
Cytogenetics:
Cytogenetics Result: 46,XY,t(4;22)(q12;q11.2)[19]/46,XY[1]
FISH testing is negative for BCR/ABL.
Molecular analysis:
Interesting feature(s) of submitted case:
Morphologically there are three major differential diagnoses: chronic eosinophilic leukemia, hypereosinophilic syndrome and CML. The cytogenetics studies revealed a 46,XY,t(4;22) karyotype in 19 of 20 cells, indicating a clonal process supportive of either chronic eosinophilic leukemia or CML. The FISH studies showed negativity for (9;22) translocation (BCR/ABL), therefore not supporting CML. In addition, the FISH result also indicated the breakpoint on chromosome 22 to be outside of the BCR region. Overall the findings support chronic eosinophilic leukemia. By searching the literature, this is probably the first case showing t (4; 22)(q12;q11.2) translocation in chronic eosinophilic leukemia. The translocation between chromosomes 4q and 22q likely involves the platelet derived growth factor receptor-alpha (PDGFRA) gene on chromosome 4q12, which tends to respond to imatanib-mesylate (Gleevec) treatment by report.
By contrast, t (4; 22)(q12;q11.2) involving BCR on chromosome 22 will result in a disease similar to CML (as shown in the case submitted by Dr. Richard McMasters from US Labs) instaed of CEL.
Proposed diagnosis:
Chronic eosinophilic leukemia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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