| Session: Ph- chronic myeloproliferative disease |
| Case number: 105 |
Submitter(s): Lekidelu Taddesse-Heath.
Clinical history
The patient is a 69 year old male with leukocytosis, hepatosplenomegaly and lymphadenopathy.CBC showed WBC count of 25 K, HB 9.7 g/dl and platelet count 99K with a differential of 42% basophils, 5% eos, 25% neutrophils, 1% metamyelocytes, 12% monocytes and 15% lymphocytes. 17% NRBC were present.
Details of gross/microscopic pathology:
Aspitrate smear was suboptimal due to dry tap. Bone marrow core biopsy showed 100% cellularity with marked maturing myeloid hyperplasia with mild to moderate left shift and eosinophilia. Pratrabecular fibrosis with scattered plump/spindle cells and eosinophila was noted. Liver biopsy showed extramedullary hematopoiesis and servere periportal inflitrates with spindle cells and eosinophils.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry perfromed on marrow showed 2% blasts with 16% basophils positive for CD203 that were negative for CD117 and CD25
Immunohistochemical studies of marrow showed scattered CD117 and mast cell tryptase positive cells, but no sheets or clusters were observed.
Cytogenetics:
47,XY,+19 was observed in all metaphases of bone marrow
Ph chromosme was not observed and FISH for BCR/ABL was negative in the bone marrow.
Molecular analysis:
Interesting feature(s) of submitted case:
Chronic myeloproliferative disorder with marked basophila, Ph negative confirmed by FISH, with some features of mastocytosis (paratrabecular spindle cell proliferation and eosinophilia).
Proposed diagnosis:
Chronic basophilic leukemia.
Panel diagnosis:
SM-AHNMD (probably MDS/MPD)
Comments:
Panel comments: The diagnosis of mastocytosis is based on three minor criteria: spindling and CD25+ of mast cells, as well as presence of D816V (performed by the panel). Definitive subtyping of ""AHNMD"" is not feasible. Additional information from the submitter: PDGFR beta mutation was not detected.
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