| Session: Mast cell disease |
| Case number: 119 |
Submitter(s): Yang O. Huh, Carlos Bueso-Ramos, L. Jeffrey Medeiros.
Clinical history
A 74-year old woman initially presented in the 1970s with an abnormal blood count and was told she had ""unspecified"" leukemia. She was treated with splenectomy only. She continued to have chronic anemia but remained asymptomatic until 1999 when she developed a pleural effusion. Aspiration of pleural revealed a high count of eosinophils. In 2003, she was found to have a high white blood cell count of 30,000 with persistent eosinophilia in peripheral blood. A fine needle aspirate of an enlarged lumbar lymph node demonstrated increased eosinophils. In November of 2003, bone marrow examination was performed and the diagnosis of hypereosinophilic syndrome (HES) was made. In 2004, she was treated with imatinib (Gleevec) at a dose of 100 mg a day for hypereosinophilic syndrome. She did not achieve a remission and imatinib was discontinued after 6 weeks. She was maintained on 20 mg of prednisone daily.
Details of gross/microscopic pathology:
When the patient presented to MDACC in 01/2005, her white cell count was high at 16.7 (x 109/L) with 81% neutrophils, 8% monocytes and 5% eosinophils. Hemoglobin was 12.9 (g/dL) and platelet count 200 (x109/L). Bone marrow aspirate and biopsy were performed. The clot and core biopsy were fixed in formalin and the core biopsy was decalcified. The bone marrow core biopsy specimen was hypercellular (90%) and showed multifocal dense infiltrates of spindle-to-ovoid cells, comprising 50% of total cellularity. In addition, increased interstitial eosinophils representing 15-20% of cellularity were observed. Megakaryocytes were dysplastic with many small hypolobated forms. Bone marrow aspirate smear showed eosinophilia (13%), monocytosis (10%), increased blasts and promonocytes (8%), and dysplastic changes involving all three lineages. In addition, rare TRAP-positive atypical lymphoid cells were identified.
Immunophenotype (flow cytometry/immunohistochemistry):
Tryptase: Positive in spindle shaped cells
CD117 and CD25: Positive in spindle shaped cells
CD2: Negative
CD20: Interstitial positive cells (5%)
Flow cytometry:
Aberrant mast cells expressing bright CD117 and CD25 are demonstrated. Rare monotypic lambda light chain-restricted B-cells expressing CD20, CD22, CD11c and CD103 are also identified.
Cytogenetics:
Normal diploid female karyotype: 46,XX[20].
Molecular analysis:
Not performed.
Interesting feature(s) of submitted case:
SM may be associated with clonal hematological non-mast cell disease (SM-AHNMD). Simultaneous demonstration of three different hematologic neoplasms in a single bone marrow specimen in this case is exceptionally unusual and interesting.
Proposed diagnosis:
Systemic mastocytosis (SM) associated with idiopathic hypereosinophilic syndrome (HES), chronic myelomonocytic leukemia (CMML) and hairy cell leukemia.
Panel diagnosis:
SM-AHNMD
Comments:
Panel comment: PDGFR-A/B analysis would be of value. Studies performed by the panel: positive for D816V mutation, CD25+, WT JAK-2. Additional information deom the submitter: PDGFRa/b analysis was not done. However, KIT mutation was detected by PCR assay.
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