| Session: Chronic myelogenous leukemia |
| Case number: 134 |
Submitter(s): Rebecca F. McClure, Chin-Yang Li.
Clinical history
69 year old woman with a history of breast carcinoma (10 years ago without recurrence), hypertension and depression. Current medications for these include metroprolol, candesartan, hydrochlorothiazide, paroxetine and trazodone.
Evaluation for retinal hemorrhages 13 years ago revealed thrombocytosis (>1000 x 109/L), mild normocytic anemia with normal WBC, no hepatosplenomegaly and a bone marrow interpreted as "mildly hypercellular bone marrow with increased megakaryocytes, consistent with a chronic myeloproliferative disorder". A diagnosis of essential thrombocythemia was made. No report of BCR/ABL status at diagnosis was found. She failed a trial of hydroxyurea and has been maintained on anagrelide, with decreasing dosage required to maintain a normal platelet count over the last few years.
She presented for evaluation of her CMPD when her physician observed her blood had acquired circulating erythroid and neutrophil precursors, as well as dacrocytes. She is asymptomatic. Her physical exam is unremarkable except for palpable splenomegaly.
Details of gross/microscopic pathology:
CBC: Hb 10.5 g/dL; RBC 3.66 x 1012/L; MCV 85.3 fL; RDW 19.7%; WBC 12.8 x 109/L; Plt 250 x 109/L
Blood Absolute Counts: neutrophils 8.96 x 109/L; metamyelocytes 0.64 x 109/L; myelocytes 0.38 x 109/L; lymphocytes 1.54 x 109/L; monocytes 0.77 x 109/L; eosinophils 0.38 x 109/L; basophils 0.13 x 109L; nucleated RBCs 1.41 x 109/L
Blood Morphology: Normocytic anemia with anisocytosis (moderate hypochromic microcytes, moderate polychromasia), poikilocytosis (moderate dacrocytes, slight elliptocytes), course cytoplasmic stippling and circulating nucleated RBCs. Absolute neutrophilia with circulating neutrophil precursors. Neutrophils, eosinophils, basophils, monocytes and lymphocytes have normal cytology. Platelets appear normal.
Bone Marrow Aspirate: Dry tap
Bone Marrow Biopsy (formic acid decalcification, formalin fixation, paraffin-embedding, H&E): Hypercellular (80-90%) with panmyeloid hyperplasia, normal-appearing M:E and no increase in lymphocytes, plasma cells or blasts. Megakaryocytes are atypical (large, course chromatin, clustering). There is moderate/marked osteosclerosis and increased reticulin fibrosis (2-3+ by reticulin stain).
Ferritin: 202 ug/L (normal 14-307)
Erythropoietin: 36 mIU/mL (normal 4-21).
Immunophenotype (flow cytometry/immunohistochemistry):
None performed.
Cytogenetics:
Interphase FISH for BCR/ABL (bone marow): Positive for BCR/ABL fusion signals (0.8% of 500 nuclei).
Molecular analysis:
JAK2 V617F (quantitative PCR) (bone marrow): Positive. The mutated:unmutated allele ratio was 0.98 (98% mutated alleles).
bcr/abl (quantitative RT-PCR) (blood): Positive. The level was 1.52 log reduction from an average level for CML patients at diagnosis.
Interesting feature(s) of submitted case:
A CMPD with high levels of both JAK2 V617F and bcr/abl. It is generally thought that these two results are mutually exclusive.
Proposed diagnosis:
Chronic myeloproliferative disorder, not otherwise specified, JAK2 V617F and BCR/ABL positive.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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