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A Lj 3-year-old male presen ts for further evaluation secondary to a 1 -year history of chest pai n, fatigue, generalized i tching, and cough . Physical examination reveals hepa- tosplenomegaly. Laboratory studies show leukocyte count of 1 7 , Lj00/pL absolute eosinophil count of 11 ,000/,LLL hemoglobin 1 Lj .S g/dl, and platelet count of 1 5 6,000/,LLL. Peripheral blood smear is shown below.
Bone marrow aspiration and biopsy is obtai ned and reveales hypercellularity with increased eosinoph il precursors
What is the most appropriate next step in management?
- Test for BCR-ABL transcript
- Test for 4q deletion
- Test for Sq deletion
- Choices A and B
- Choices A, B, and C
Medicine
D. The blood smear shows marked increase in eosinophils, some with vacuoles, sparse granulation, and nuclear hypersegmentation. It is noteworthy that there is no basophilia or myeloid left shift typical of chronic myeloid leukemia (CML). The two major differential diagnoses in this case are chronic myeloid leukemia (CML) presenting with associated eosinophilia PDGFRA associated myeloid neoplasm and chronic eosinophilic leukemia not otherwise specified (CEL-NOS). Testing for BCR-ABL transcript will help distinguish between the BCR-ABL positive CML and the other disorders. Interstitial deletion of chromosome 4q12 resulting in a chimeric fusion gene, FIPlLl-PDGFRA, is the most common chromosomal abnormality in cases presenting as CEL, and is detected in 14% of cases. This deletion affects the locus of CHIC2 gene, and testing for FIPlLl-PDGFRA fusion is performed using FISH for CHIC2 1ocus. By definition, CEL-NOS is negative for PDGFRA fusion gene (citation). (Blood. 2004;104(10):3038).
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