| Session: Ph- chronic myeloproliferative disease |
| Case number: 081 |
Submitter(s): Beverly P. Nelson, Lo Ann Peterson.
Clinical history
A 38 year-old-man went to see his doctor in June 2004 because of neck pain. The physical examination was normal, MRI showed mild degenerative changes, and a CBC showed leukocytosis. He was referred to a hematologist. CBC with differential showed the following: WBC 68.3k/uL; HGB 12.1 g/dl; HCT 37.9%; MCV 98fL; RDW 15.9%; PLT 91k/uL (myelocytes 6.5%, metamyelocytes 10.0%, neutrophils 67%; lymphocytes 7.5%, monocytes 4.0%, eosinophils 4.5%, basophils 1.0%). Leukocyte alkaline phosphatase score performed on the blood was decreased (LAP 2; Reference range 18-164). A bone marrow biopsy showed findings consistent with a chronic myeloproliferative disorder.
Details of gross/microscopic pathology:
Wright/Giemsa stained blood and bone marrow touch imprint were reviewed. The aspirate smear contained no cellular particles. The bone marrow core biopsy was fixed in B5 and decalcified. H&E and reticulin stains were performed.
Immunophenotype (flow cytometry/immunohistochemistry):
Not performed.
Cytogenetics:
Genetic analysis of the bone marrow showed an abnormal karytoytpe:
46XY, t(5;12) (q33;p13)[20].
FISH identified PDGFRb/TEL fusion and showed no BCR/ABL fusion.
Molecular analysis:
Interesting feature(s) of submitted case:
Many of the blood and bone marrow findings in this case resemble CML, but thrombocytopenia would be unusual and BCR/ABL translocation was absent. Instead t(5;12)(q33;p13) resulting in TEL/PDGFbeta gene fusion was present. Translocation (5;12) has been described in CMML; monocytosis was present, but it was not a prominent finding in this case. The patient was treated with Gleevec and achieved a normal CBC, normal bone marrow morphology, as well as complete cytogenetic response by April 2005. However, FISH showed rare cells with PDGFRb/TEL fusion (1.2% of 500 nuclei).
Proposed diagnosis:
Chronic myeloproliferative disorder with t(5;12).
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
Presentation Link
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