| Session: Mast cell disease |
| Case number: 227 |
Submitter(s): Jason Cheng, Joann Hutto, Andrew Artz, Lucy Godley, Yan-Ming Zheng, Elizabeth M. Hyjek, John Anastasi, James W. Vardiman.
Clinical history
Clinical history:
The patient is a 63 yr women referred to the UC in 09/06 for second opinion and treatment for her MDS-RCMD diagnosed in 06/06. The patient had a history of thrombocytopenia (15-16K/ul) diagnosed in 2003 but initially had normal Hgb and WBC. In 05/06 the Hgb level declined to 9 g/dL and a bone marrow (BM) evaluation was performed and interpreted at the outside institution as MDS- RCMD. The patient was started on Aranesp but did not have an adequate response and required blood transfusion. In 07/07 the patient was initiated on Vidaza. T presentation to UC she complained of intermittent, worsening fevers, night sweats for approximately 3 month, 15-20 pounds weight loss, abnormal bowel movement without frank diarrhea, and peptic ulcer disease. CT of the abdomen showed splenomegaly. Repeated biopsy at the UC in 09/06 showed systemic mastocytosis (SM) associated with MDS with increased blasts (13%) and ringed sideroblasts and normal karyotype, and review of the initial biopsy showed that the SM was present and apparently missed at the initial inetrpretation. The patient continued on Vidaza and was started on Gleevec at 400 mg daily on 11//06 for mast cells disease.The patient had some improvement on imatinib in that the sweats improved. However, due to cytopenias, the imatinib was stopped after 2 weeks. Subsequently, the patient was admitted for pneumonia and treated with broad spectrum of antibiotics. Meanwhile, molecular analysis showed c-kit mutation D816V. The patient was restarted on Vidaza in 12/06 and after 3 cycles Vidaza the patient underwent bone marrow biopsy on 2/14 07 for evaluation response to therapy.
Details of gross/microscopic pathology:
The peripheral blood showed pancytopenia with dysplastic neutrophils. The bone marrow was markedly hypercellular. There were large sheets of mast cells frequently along the boney trabeculae. The mast cells had plump or spindly and sometimes bilobed nuclei. Cytoplasm was abundant. The remainder of the bone marrow was hypercellular with prominent megakaryocytic proliferation with dysplasia. Blasts were modestly increased in number, and there was granulocytic maturation. The M:E ratio was decreased at 0.5:1 due to marked erythroid proliferation. Erythropoiesis was megaloblastoid with presence of ring sideroblasts.
Immunophenotype (flow cytometry/immunohistochemistry):
Mast cells: CD117(+), Mast cell tryptase(+), CD25(+).
Cytogenetics:
Normal female karyotype: 46,XX.
Molecular analysis:
c-kit mutation D816V.
Interesting feature(s) of submitted case:
This is a case of Systemic Mastocytosis (SM) -AHNMD (MDS) with D816V and normal karyotype, initially misdiagnosed as only MDS.
Proposed diagnosis:
Systemic mastocytosis with D816V and associated clonal hematological non-mast cell lineage disease (MDS) with normal karyotype.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Studies performed by the panel: positive for D816V mutation, CD25+, probably WT JAK-2
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