| Session: Therapy-related myeloid neoplasm |
| Case number: 144 |
Submitter(s): Caroline C. Massey, Lydia R. Christiansen, John Lazarchick.
Clinical history
58 y/o WF with CLL diagnosed in 2001. Treatment included an aborted course of Rituxan (due to anaphylaxis), Fludarabine, and now Chlorambucil. Past medical history of large cell non-Hodgkin lymphoma treated with CHOP and has been in remission since in 1998. In November of 2006, she presented with fever and WBC count of 178,000/ul with 59% blasts.
Current CBC: Hb:10g/dl, Hct:31.5%, WBC 117,000/ul and platelets:144,000/ul, with a differential of 1% neutrophils, 69% lymphocytes, 1% myelocytes, and 29% blasts.
Details of gross/microscopic pathology:
Examination of the peripheral blood reveals a dual population of large agranular blasts and small lymphocytes. Smudge cells are also present.
The bone marrow aspirate shows a large population of mature lymphocytes and a distinct population of blasts. Megakaryocytes show dysplastic features (small uni- and bi-lobed). Erythroid precursors are decreased. A 200-cell differential count revealed: bands 1%, lymphocytes 65%, eosinophils 2%, erythroid 4%, metamyelocytes 1%, myelocytes 1%, promyelocytes 1%, and blasts 25%.
The bone marrow biopsy was fixed with B5 fixative, placed in 10% neutral buffered formalin, and then decalcified using 10% formic acid. The bone marrow biopsy is 100% cellular. Two distinct populations are identified: a population of small lymphocytes, and a separate population of blasts. Megakaryocytes are small and dysplastic.
Immunophenotype (flow cytometry/immunohistochemistry):
Myeloperoxidase: positive in the majority of the blast population
CD20 and CD 79a: positive in the small lymphocyte population
CD 34: positive in the blast population
Flow cytometry: blasts constitute 45% of the non-erythroid marrow elements and express CD34, CD33(dim), CD117, HLA-DR, CD13, CD7(dim), and CD38, indicating a myeloid lineage. The small lymphocyte population comprises 33% of the non-erythroid marrow elements and demonstrate Kappa light chain restriction with expression of CD19, CD20, CD52, and dim CD23, compatible with CLL/SLL.
Cytogenetics:
Reveals one normal and 19 abnormal cells representing 2 related clones.
45,XX,t(3;3)(q21;q26),-7,del(9)(p13),add(20)(q13.3)/[12]
45,idem,del(5)(q13q33)/[7]
These findings are consistent with AML and t(3;3) are associated with an adverse prognosis. A single cell showed t(14;19) consistent with the clinical diagnosis of CLL, however this didn't meet the criteria for clonality.
Molecular analysis:
Interesting feature(s) of submitted case:
The patient has concurrent CLL and therapy induced AML. The dual population can be appreciated using the morphology of the bone marrow biopsy, the immunohistochemistry, the flow cytometry, and the cytogenetics. Also interesting is the patient's previous diagnosis of large cell non-Hodgkin lymphoma. While these slides are not available for review, it is possible that this diagnosis could actually represent a Richter's transformation of an undiagnosed CLL.
Proposed diagnosis:
Concurrent CLL with therapy-related AML (t-AML).
Panel diagnosis:
agree with proposed diagnosis
Comments:
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