| Session: Mast cell disease |
| Case number: 113 |
Submitter(s): Konnie Hebeda, Freek Bot.
Clinical history
Male, 35 yrs, presented in 2006 with progressive tiredness, dyspnea and night sweats. Serum tryptase at presentation: 955ug/ L (max = 10), no mediator related symptoms.
Follow-up: chemotherapy (Idarubicin+Ara-C): no response. 2nd chemotherapy (Amsacrin+cytarabin): CR.
Jan 2007 VUD SCT.
Details of gross/microscopic pathology:
BM aspirate smear: Sudan black: not evaluable. Alfa naftyl esterase: negative.
BM diff at presentation: 20 blasts, 1 rod, 4 lymphos, 63 basophils, 4 plasmacells, 8 erythroblasts.
BM biopsy: Bouin fixation, EDTA decalcification:
100% cellular marrow mainly consisting of extensive sheets of spnidled mastcells (Giemsa stain) with intermingled Leder-negative blasts. Extensive fibrosis. Slight dysplastic features of the sparse remaining hematopoiesis.
Immunophenotype (flow cytometry/immunohistochemistry):
Flowcytometric immunophenotyping of BM: Positive: CD13, CD33, CD64, HLA-DR, and CD7; blasts also positive for CD34 and CD117.
Immunohistochemistry on BM biopsy: Positive: CD117, mastcell tryptase, CD68, vimentin. Blasts: CD34. MPO: few mainly immature myeloid cells.
Cytogenetics:
46XY,del(5)(q12,q32) (1) / 49,XY,+8,der+(12)(p12),+21 (19).
Molecular analysis:
Interesting feature(s) of submitted case:
Originally diagnosed as basophilic leukemia, discussion of the differential diagnosis of 1) systemic mastocytosis associated with AML (SM-AHNMD), 2) basophilic leukemia, and 3) mast cell leukemia.
Proposed diagnosis:
mast cell leukemia.
Panel diagnosis:
Consensus not reached
Comments:
Panel comment: additional immunostains and D816V analysis not available
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