| Session: Ph- chronic myeloproliferative disease |
| Case number: 028 |
Submitter(s): Lauren B. Smith, Cem Akin, Bertram Schnitzer, Diane Roulston, Charles W. Ross.
Clinical history
88-year-old woman with osteoporosis and dementia evaluated for fatigue and shortness of breath. There was no palpable splenomegaly.
CBC at presentation: WBC 80,000/[mu]L, Hb 8.1 g/dL, Plt 96,000/[mu]L. Manual differential count: 6% blasts, 1% promyelocytes, 6% myelocytes, 5% neutrophils, 3% lymphocytes, 48% eosinophils, and 31% basophils.
Details of gross/microscopic pathology:
Peripheral blood (figures 1-3): Circulating blasts, absolute basophilia, and absolute eosinophilia. A subset of neutrophils, eosinophils, and basophils demonstrate dysplastic features including eospinophils with ring nuclei, hyperlobated nuclei, and pelgeroid neutrophils. Moderate thrombocytopenia.
Unilateral bone marrow biopsy (figure 4): Fixed in B5 and formalin. Bone marrow cellularity greater than 95% with prominent basophilia, eosinophilia and left-shifted granulocytic maturation. Trilineage hematopoietic maturation with occasional hypolobated megakaryocytes.
Bone marrow aspirate smear: Dyserythropoiesis present in erythroid precursors (figure 5). The granulocytic series demonstrates a shift to immaturity with 8.2% myeloblasts. Myeloblasts have single prominent nucleoli, basophilic cytoplasm and occasional large granules. No Auer rods are identified (figure 6). An iron stain reveals ringed sideroblasts.
Immunophenotype (flow cytometry/immunohistochemistry):
A tryptase stain on the bone marrow core biopsy shows many positive immature mononuclear cells, presumably granulocytic precursors rather than mast cells (figure 7).
Flow immunophenotype (bone marrow aspirate): Blasts expressing CD11c, CD13, CD33, CD34, CD45 (dim), and CD117 (figures 8-10).
Basophils (population with bright CD45 and low side scatter) expressing CD11c, CD13, CD33, and CD117 (dim).
Cytogenetics:
46, XX, add(2)(q34), del(5)(q14q33),inv(6)(p23q21), del(13)(q12q32),-16, add(18)(q21),+mar [20]
Molecular analysis:
FISH for BCR/ABL and CHIC2 anomalies with probes for 4q12 (CHIC2, FIP1L1, PDGFR[alpha]) negative.
RT-PCR followed by HinfI RFLP analysis (for D816V c-kit) and direct sequencing were negative for c-kit codon 816, juxtamembrane and transmembrane, and JAK2 V617F mutations.
Interesting feature(s) of submitted case:
This patient presented with a marked leukocytosis consisting predominantly of eosinophils and basophils with increased blasts. The eosinophilia and basophilia suggested a differential diagnosis including chronic myelogenous leukemia in accelerated phase, chronic myelomonocytic leukemia with eosinophilia, hypereosinophilic syndrome, and chronic eosinophilic leukemia. In addition to the proliferative component, dysplastic features are present. The positive tryptase stain is interesting as it could lead to a misdiagnosis of mastocytosis. This disorder did not fit into any of the well-characterized entities in the WHO classification.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disease, unclassifiable (WHO).
Panel diagnosis:
agree with proposed diagnosis
Comments:
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