| Session: Ph- chronic myeloproliferative disease |
| Case number: 018 |
Submitter(s): Michael G. Bayerl, Tina Edmonston, Ashraf A. Abou-Elella, James Powell, Rhett P. Ketterling.
Clinical history
12 mo. old female with incidentally identified hepatosplenomegaly and leukocytosis. No mediastinal mass.
CBC: WBC 208 x 109/L, Hb 8.1 g/dL, HCT 24.2%, RBC 3.10 x 1012/L, MCH 26.1 pg, MCHC 33.5 g/dL, MCV 78.1 fL, RDW 19.4%, PLT 87 x 109/L.
Diff: <1% blasts, 1% promyelocytes, 2% neutrophilic myelocytes, 2% neutrophilic metamyelocytes, 9% band and segmented neutrophils, 6% monocytes, 2% basophils, 58% eosinophils.[figure1]Serum tryptase, 4 ng/mL (normal 2-10); muraminidase, 19.1 mcg/mL (normal 0.2-15.8); HbF = 4.6%.
Meds: Amoxicillin
Course: She developed pulmonary insufficency, rash and diffuse lymphadenopathy over about a month.
She had transient and incomplete responses to hydroxyurea and imatinib mesylate. Recently, she has had a nearly complete clinical and hematological response to corticosteroids, WBC from 139.8 to 14.6 with eosinophils 85.6 to 1.2 x 109/L.
Details of gross/microscopic pathology:
Bone marrow aspirate and biosy (AZF-fixed, RDO-decal): 100% cellular, M:E ratio 7.2:1, no icrease in blasts (1%), markedly increased eosinophils (35% with left-shift, comprising 11% eosinophilic myelocytes, 9% eosinophilic metamyelocytes, 15% segmented and band eosinophils), normal monoocytes (1%), normal numbers of megakaryocytes, minimal reticulin fibrosis, no morphologic dyspoiesis of any lineage, lymphoid infiltrate, Hodgkin lymphoma, mast cell infiltrate or granuloma.[figure2]Skin, liver and lymph node all have mature eosinophilic infiltrates.Skin[figure3]Liver[figure4]Lymph Node (20X)[figure5]Lymph Node (1000X)[figure6]
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry (marrow): No increase in myeloblasts (0.5%), no aberrent myeloid maturation and no abnormal or blastic lymphoid population.
IHC (lymph node): A few single TdT-positive cells.
Cytogenetics:
46, XX normal female
No anomaly by FISH for: -7, +8, MLL, BCR/ABL, ARG, CHIC2, FIP1L1/PDGFRa, and PDGFRb/TEL.
Molecular analysis:
HUMARA showed allelic ratio of 100:1.[figure7]Allele specific PCR for JAK2 V617F = negative
RT-PCR for BCR/ABL = negative
RT-PCR for CBFB/MYH11 = negative
Marrow culuture with and without GMCSF did not show hypersensitivity.
Interesting feature(s) of submitted case:
1) CEL is extremely rare in children and females, and difficult do diagnose other than by exclusion, in the absence of molecular markers.
2) Molecular and cytogenetic techniques were used to exclude specific molecularly defined myeloproliferative disorders associated with eosinophilic leukocytosis.
3) Utility of HUMARA assay to demonstrate clonality, supporting the diagnosis of CEL in the absence of increased blasts or cytogenetic anomaly.
4) Dramatic response to corticosteroids.
Proposed diagnosis:
Chronic eosinophilic leukemia (CEL)
Panel diagnosis:
agree with proposed diagnosis
Comments:
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