| Session: Chronic myelogenous leukemia |
| Case number: 213 |
Submitter(s): Dennis P. O'Malley, Michele Hibbard, Jess Savala, Shi-Ping Jiang, Richard McMasters, Wayne Chen, Changjun Yue, Robert Stroup, Hector Zepeda.
Clinical history
CONTINUATION/ADDITIONAL INFORMATION FOR SUBMISSION 750190
66 year old man presented with history of weakness and fatigue. Had DVT in past. Physical examination revealed splenomegaly, 2-3 cm below the margin of the ribs.
Laboratory studies at presentation included:
LAP: 10 (low) (NL range 25-130)
LDH: 655 (100-250)
Uric Acid: 9.8 (2.4-8.2)
B12: >2000 (211-911)
Folate: 6.2 (NL >5.4).
Details of gross/microscopic pathology:
Peripheral blood:
Leukocytosis composed of predominantly neutrophils with a left shift in maturation. Blasts not significantly increased. Some increase in basophils.
Bone marrow aspirate:
Markedly increased granulocytes and precursors, without significant increase in blasts. Increased eosinophils and precursors. Occasional dwarf megakaryocytes.
Clot section/core biopsy:
Hypercellular with increased myeloid elements. Dwarf megakaryocytes are frequent. Immature/blast forms do not appear increased.
Immunophenotype (flow cytometry/immunohistochemistry):
Bone marrow flow:
Blasts <1%; Lymphocytes 1%; Monocytes <1%; plasma cells <1%
Myeloid 97%
Myeloid phenotype typical except for increased expression of CD56 on myeloid elements.
Cytogenetics:
t(9;17;22)(p24;p11.1;q11.2)
FISH for BCR/ABL - negative, but extra copy of BCR in some cells.
Molecular analysis:
Negative for JAK2 mutation.
Interesting feature(s) of submitted case:
Rare variant of CML which has appears to have a fusion of BCR and JAK2 (not JAK2 mutation).
This has been reported once before in Greisinger et al. Genes Chrom Cancer 205;44. The index case was not reponsive to Gleevec.
Proposed diagnosis:
Chronic myelogenous leukemia with variant translocation t(9;17;22)(p24;p11.1;q11.2). Presumed fusion of BCR and JAK2.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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