| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 238 |
Submitter(s): Attilio Orazi
Clinical history
54 year-old woman with routinely discovered thrombocytosis of 774,000 x109/l. Corresponding WBC: 7.4 x109/l (Neut.74%; Lymph. 23%; other 3%). Hb: 13.6 g/dl (MCV 92 fl). Treated with HU. Six years later, she developed secondary AML and is currently in remission post induction chemotherapy.
Details of gross/microscopic pathology:
routine formalin fixation and paraffin embedding.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow of the secondary leukemia: blasts positive with CD34, CD117, CD13, CD33. No histiocytic or lymphoid antigens
Cytogenetics:
isolated 5q-
Molecular analysis:
Bcr-Abl negative; JAK2-V617F mutation positive
Interesting feature(s) of submitted case:
This represents an unusual variant of myelodysplastic/myeloproliferative disorder characterized by isolated 5q- abnormality in association with a JAK2-V617F mutation. Similar cases of 5q- syndrome presenting with chronic myeloproliferative disorders-like manifestations, thrombocytosis in particular, has been reported in the past (Takasashi et al: 5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: a case report. Am J Hematol. 2000 Jun;64(2):120-3). More recently, it has been documented that those cases are characterized by a frequency of JAK2 mutations that is higher than that seen in the nonproliferative “garden variety” 5q- syndrome (Ingram et al: Leukemia 2006;20:1319-1321).
Proposed diagnosis:
MDS/MPD, unclassifiable characterized by thrombocytosis, granulocytic proliferation in the bone marrow, associated with 5q- and JAK2 mutation.
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
Presentation Link
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