| Session: Therapy-related myeloid neoplasm |
| Case number: 086 |
Submitter(s): Mohammad A. Vasef, Kathryn M. Foucar.
Clinical history
The patient is a 22-year-old male who was diagnosed with Ewing sarcoma of right great toe in 9/2001 and underwent surgical amputation followed by chemotherapy including vincristine, cytoxan, and adriamycin. Complete remission was achieved until 12/2003 when he presented with recurrent Ewing sarcoma in a lymph node and bilateral lungs. The lymph node was excised and the patient received cytoxan and Etoposide followed by pulmonary nodulectomies. In 3/2004, due to persistent disease, the patient received high dose ICE (Idarubibin, cytoxan, and Etoposide) chemotherapy. The disease was stable until 3/2006 when a chest X-ray revealed bilateral pulmonary nodules.
CBC in 6/2006: WBC: 3.4 K/uL; Hgb: 10.9; Hct: 32%; MCV: 97 fl; platelet: 101 uL. Differential count: monocytes: 48%; neutrophils: 31%; eosinophils: 2%; lymphocytes: 19%; nucleated red blood cells: 5%.
Details of gross/microscopic pathology:
Peripheral blood smear from 6/2006 showed mild normocytic anemia, thrombocytopenia, and mild leukopenia with 48% mature appearing monocytes.[figure1]Concurrent bone marrow aspirate smears revealed trilineage hematopoiesis and a variable numbers of promonocytes and monoblasts with round to folded nuclei, fine chromatin pattern, prominent nucleoli, and abundant pale to basophilic cytoplasm exceeding 20% of marrow cellularity.[figure2][figure3]In addition, clusters of cohesive cells with hyperchromatic nuclei were also present consistent with metastatic Ewing sarcoma.[figure4]The clot and trephine biopsy sections showed a normocellular bone marrow with trilineage hematopoiesis, metastatic Ewing sarcoma deposits, and a variable numbers of monocytic cells similar to those in aspirate smears.[figure5][figure6]
Immunophenotype (flow cytometry/immunohistochemistry):
Paraffin immunohistochemical stains performed on clot sections revealed that monocytic lineage cells were strongly positive for lysozyme and negative for myeloperoxidase.[figure7][figure8]The Ewing sarcoma cells expressed CD99 and CD117.[figure9][figure10]A subset of monocytic cells appeared to be positive for CD99 but the majority of monocytic cells were CD117-negative.
Cytogenetics:
Cytogenetic analysis performed on fresh bone marrow aspirate:
46,XY,t(9;11)(p22;q23)[18]/46,XY,t(6;11;22)(q15;q24;q12)[2]
The t(6;11;22) identified in this bone marrow had been detected previously in a specimen involved by Ewing sarcoma in this patient but the t(9;11) had not been detected previously.
Molecular analysis:
Interesting feature(s) of submitted case:
The findings in this patient is consistent with therapy-related AML. The t(9;11) abnormality involving 11q23 that was found in this patient's AML is consistent with DNA topoisomerase II inhibitor adminstration that this patient had received due to persistent and refractory Ewing sarcoma. The cytogenetic analysis also identified t(6;11;22) abnormality related to Ewing sarcoma cells in the same bone marrow specimen.
Proposed diagnosis:
Acute myeloid leukemia with t(9;11)(p22;q23) abnormality and metastatic Ewing sarcoma involving the bone marrow.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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