| Session: Ph- chronic myeloproliferative disease |
| Case number: 169 |
Submitter(s): Wayne W. Chen, Gary Lu, Shi-Ping Jiang, Changjun Yue, Richard McMaster, Jess Savala, Dennis P. O'Malley.
Clinical history
This patient is a 70 year-old male with a clinical suspicion for myeloproliferative disorder.
CBC showed marked leukocytosis at 49,000 and marked neutrophilia. RBC 6.43 m/mm 3 ; hemoglobin 13.30 g/dl; hemocrit 43.20 %; MCV 67.20 fL; MCH 20.70 pg; MCHC 30.80 g/dl; RDW 18.00; platelet 339 k/mm 3; MPV 11.40 fl; WBC 49 k/mm 3; neutrophils 85.50%; lymphocytes 7.60%; monocytes 4.00%; eosinophils 1.2%; basophils 1.30%.
Details of gross/microscopic pathology:
Bone marrow biopsy shows markedly hypercellular marrow with left-shifted myeloid maturation, increased megakaryocytes with clustering, and increased neutrophils.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometric analysis of bone marrow aspirate shows myeloid preponderance with <1% blasts, 4% lymphoyctes, 4% monocytes, 84% myeloid cells.
Cytogenetics:
Cytogenetic study shows 40, XY, del(20)(q12)[20]
FISH analysis reveals no BCR/Abl translocation.
Molecular analysis:
JAK2 V617F mutational analysis by multiplex PCR of peripheral blood was negative.
Interesting feature(s) of submitted case:
JAK2 V617F mutation is present in almost all patients of polycythemia vera, and in approximately half of those patients with essential thrombocythemia and myelofibrosis. It is only infrequently identified in atypical chronic myeloproliferative disorders such as chronic neutrophilic leukemia. There are only a few cases reported in literature about JAK 2 mutation in CNL.
Here we report a CNL case with JAK 2 V617F mutation and negative for BCR/Abl translocation.
It is not clear which role of this mutation might play in pathogenesis and prognosis for CNL. Based on the very limited study, JAK2 V617F [ndash]positive CNL may have an aggressive disease course.
Proposed diagnosis:
Chronic neutrophilic leuekemia with JAK2 V617F mutation.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Additional information from the submitter: Correction of typographical error: JAK2 V617F mutation analysis by multiplex PCR of peripheral blood was POSITIVE.
Images:
 |
Figure 1 |
 |
Figure 2 |
 |
Figure 3 |
 |
Figure 4 |
Back to Top
Back to Cases by Session
Back to Cases by Contact Submitter