| Session: Therapy-related myeloid neoplasm |
| Case number: 089 |
Submitter(s): Sheeja T. Pullarkat, Vinod Pullarkat, Steven H. Kroft, Carla S. Wilson, Maung Thein, Russell K. Brynes.
Clinical history
A 54 y.o. woman was diagnosed with breast carcinoma and received chemotherapy consisting of adriamycin, Ara C, and Taxol followed by Arimidex and involved field radiotherapy. One year later she developed t(8;21)(q22;q22) AML. Induction with daunorubicin and Ara C was followed by CR. She underwent three cycles of consolidation therapy with high dose Ara C. A bone marrow study following cycle #3 showed AML and numerous mast cells. Attempted reinduction with mitoxantrone, etoposide, and Ara C was unsuccessful, and she died 8 months after diagnosis.
Details of gross/microscopic pathology:
At presentation, the WBC=56,000, Hb = 9.9, Plt = 22. 96% blasts were seen on the peripheral smear. They were typical of AML with maturation. The B5-fixed bone marrow biopsy sections were markedly hypercellular (100%) and totally replaced by sheets of blasts. Mast cells were not increased.
The post-consolidation therapy bone marrow study showed partial replacement of a moderately hypercellular bone marrow by leukemic blasts (27%) that were similar to those seen at presentation. Numerous mast cells were present on the particle smears. Some had indented to lobulated nuclear contours, but granulation was normal. They had a paratrabecular and perivascular distribution on the trephine biopsy sections.
Immunophenotype (flow cytometry/immunohistochemistry):
The blasts demonstrated CD33 dim, CD34, CD45 dim, CD117 dim, and HLA-DR, and were negative for CD7, CD11b, CD13, CD14, CD15, CD19, and CD20.
Mast cells on the post-consolidation bone marrow trephine biopsy immunostained for CD25 and CD117.
Cytogenetics:
t(8;21)(q22;q22).
Molecular analysis:
A KIT codon 816 mutation was found on the post-consolidation bone marrow specimen (sequencing data to be presented).
Interesting feature(s) of submitted case:
AML with associated systemic mastocytosis (SM-AML) is a rare form of SM-AHNMD. Of 20 SM-AML cases in a recent review, 6 belonged to the t(8;21)(q22;q22) category (J Clin Pathol 2004;57:324). This case represents the fifth SM-AML that we have studied. The t(8;21) translocation was detected in four. Two patients died within one year of diagnosis, and the other two received allogeneic stem cell transplants. One DOD 1 year post-SCT (2 years after Dx); the other is A&W 1 year post-SCT (2 years after Dx). While the role of prior chemotherapy in the submitted case is unclear, activating KIT mutations confer a poor prognosis in t(8;21) AML. This secondary event may represent a common link between SM and t(8;21) AML.
Proposed diagnosis:
SM-AHNMD: Systemic mastocytosis with associated t(8;21)(q22;q22) AML.
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
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