| Session: Mast cell disease |
| Case number: 033 |
Submitter(s): Steven H. Swerdlow.
Clinical history
72 year old female with reported history of essential thrombocythemia being treated with hydroxyurea (last treatment 2 weeks prior to this marrow examination). History of breast carcinoma, anorexia and tobacco abuse. She also has a lung nodule of uncertain etiology. Other medications include aspirin, vitamin B12, Zoloft & Levoxyl. CBC: WBC 9.6, Hgb 11.8, MCV 89.7, MCHC 34.1, Plt 216 (diff could not be performed due to nature of smear we received).
Details of gross/microscopic pathology:
BM biopsy fixed in B+.
The variably cellullar marrow showed trilineage hematopoiesis, prominent megakaryocytes including some that are very large, and perivascular and paratrabecular somewhat fibrotic lesions that included many spindled cells and some eosinophils.
Immunophenotype (flow cytometry/immunohistochemistry):
IHC (see images) showed that the spindle cell lesions and scattered spindle cells were positive for tryptase, CD117, CD2 and CD25.
Cytogenetics:
46,XX
FISH for BCR/ABL was negative.
Molecular analysis:
JAK2 V617F mutation NEGATIVE.
Attempt to look for KIT mutation will be made.
Interesting feature(s) of submitted case:
This case that appears to represent a partially treated myeloproliferative disorder (MPD) is of interest because of the associated classic mast cell disease (MCD) which was initially missed and only picked up as part of our quality assurance program. Fibrotic lesions in the setting of MPD cannot be assumed to simply reflect the MPD. The relationship of the MCD to the MPD and its clinical implications are also of interest, but this case cannot answer those questions. Finally, the case raises the question as to how much one can/should say about the presence or nature of a MPD in this patient receiving hydroxyurea and currently with normal peripheral blood counts especially when there are no prior marrows to review.
Proposed diagnosis:
Mast cell disease in bone marrow consistent with partially treated chronic myeloproliferative disorder.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Studies performed by the panel: no amplification for c-kit, CD25+, WT JAK-2
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