| Session: Mast cell disease |
| Case number: 074 |
Submitter(s): Amilcar A. Castellano-Sanchez, Antonio E. Martinez, Joseph Pizzolato, Ana M. Medina, Beria Cabello-Inchausti.
Clinical history
A 73 year-old female presented for evaluation due to progressive anemia and shortness of breath. The patient had a history of smoking and COPD with clinical features of emphysema. She had also recently developed a skin rash with urticarial features which was biopsied at another institution. She was started on Procrit in an effort to ameliorate her respiratory symptoms and anemia. On the medication, her anemia continued to worsen and she underwent a bone marrow biopsy.
o CBC with differential:
Result Name Result Ref Range
WHITE BLOOD CELL COUNT (10^3/uL): 10.3 4.80-10.80
RED CELL COUNT (10^6/uL): 3.55 L 4.70-6.10
HEMOGLOBIN (g/dL): 10.4 L 14.0-18.0
HEMATOCRIT (%): 31.6 L 42.0-52.0
MEAN CORPUSCULAR VOLUME (fL): 89.0 82.0-95.0
MEAN CORPUSCULAR HGB (pg): 29.4 26.0-31.0
MEAN CORPUSCULAR HGB CONC (%): 33.0 32.0-36.0
RED CELL DISTRIBUTION WIDTH-CV (%): 20.9 H 11.5-15.0
PLATELET COUNT (10^3/uL): 200 150-450
MEAN PLATELET VOLUME (fL): 8.6 7.4-10.4
SEGMENTED NEUTROPHILS (%): 86.5 H 42-75
LYMPHOCYTES (%): 8.1 L 16-45
MONOCYTES (%): 4.3 2-12
EOSINOPHILS (%): 0.4 0-5
ANISOCYTOSIS: MILD 1+.
Details of gross/microscopic pathology:
The Wright-Giemsa stained bone marrow smears demonstrated dysmegakaryopoiesis with hypolobated and atypical megakaryocytes; dyserythropoiesis as substantiated by nuclear contour abnormalities and nuclear budding and clusters of spindled mast cells with degranulated cytoplasm and crushing artifact. H&E stained sections of the aspirate and biopsy specimens showed atypical megakaryocytes, focal red cell hyperplasia, presence of iron stores and normal granulocytic maturation. Plasma cells were focally increased as shown by a CD138 immunostain. There were aggregates of spindled shaped mast cells with greater than 15 cells per aggregate. No granulomas, foreign cells, parasites, vascular or stromal lesions were noted.
Immunophenotype (flow cytometry/immunohistochemistry):
CD117, CD25 immunostains decorated the mast cells in the aforementioned aggregates. A Leder histochemical stain highlighted the present cytoplasmic granules in the spindled mast cell population.
Cytogenetics:
Routine karyotyping revealed a normal female chromosomal content (46,XX).
Molecular analysis:
Interesting feature(s) of submitted case:
A bone marrow biopsy and aspirate showed focally dense collections of spindled cells with eosinophilic, occasionally degranulated cytoplasm associated with dysplastic changes in megakaryocytes and red cell lineages. Morphology, the Leder stain and immunostains for CD117 and CD25 supported the diagnosis of mast cell disease and myelodysplastic syndrome.
Proposed diagnosis:
Systemic Mast Cell Disease with cellular morphologic changes consistent with Myelodysplastic Syndrome.
Panel diagnosis:
Systemic mastocytosis
Comments:
Panel comment: no definitive evidence of myelodysplastic syndrome. Studies performed by the panel: positive for D816V mutation, CD25+
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