| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 193 |
Submitter(s): Govind Bhagat, Bachir Alobeid, Raavi Gupta.
Clinical history
A 60-year-old male who underwent a cardiac transplant in 1997 for ischemic cardiomyopathy was noted to have an elevated WBC count (24.7 [times] 109/l), normocytic normochromic anemia (Hgb 11), and thrombocytopenia (94 [times] 109/l) on a routine exam in early 2002. The differential count was [ndash]Neutrophils:69, Lymphocytes:9, Eosinophils:3, Monocytes:2, Basophils:0, Bands: 8, Metamyelocytes:3, and Myelocytes: 6. A bone marrow biopsy was performed (submitted case).
The patient was on a stable immunosuppressive regimen consisting of prednisone, mycophenolate mofitil, and cyclosporine.
The patient developed supraclavicular lymphadenopathy 2 months later. Lymph node architecture was effaced by a diffuse infiltrate of lymphoblasts with the following phenotype: TdT+, CD1a+, CD2+, CD5+, CD7+, CD4+, CD8+ ("double positive") and CD16/56(partial)+. G-band karyotype showed del(5)(q15q31). PCR for TCR-[gamma] gene rearrangement showed a polyclonal product. These findings were consistent with a precursor T-cell lymphoblastic Lymphoma (T-LBL). The patient was successfully treated with a regimen consisting of cyclophosphamide, cytosine, cytarabine, methotrexate, and 6-mercaptopurine and had no clinical or radiologic evidence of T-LBL. Repeat marrow biopsy performed for new onset pancytopenia, eight months later, showed virtually similar findings as the original biopsy. Cytogenetic analysis showed a normal karyotype. One and a half years later, the patient developed splenomegaly (spleen weight [ndash] 1500 gms). Histologic review demonstrated extensive extramedullary hematopoiesis with left shifted myeloid and monocytic cells in the red pulp; CD34+ and/or CD117+ blasts were rare (<1%). G-Band karyotype showed persistence of the original cytogenetic abnormality with acquisition of an additional abnormality in a subclone: 46,XY,del(5)(q12q22)[5]/46,XY,idem,del(13)(q14)[3]/46,XY[4], consistent with cytogenetic progression. Absolute monocytosis was not detected at any time during the clinical course.
The patient suffered a stroke and died approximately 1year after splenectomy and 3 years, 2 months after initial diagnosis.
Details of gross/microscopic pathology:
Hypercellular marrow (90%) with mildly left shifted myeloid hyperplasia (M: E- 8:1) and megakaryocytic hyperplasia with dysplasia.
Immunophenotype (flow cytometry/immunohistochemistry):
No increase in CD34+ and/or CD117+ blasts were identified by immunohistochemistry or flow cytometry.
Cytogenetics:
46,XY,del(5)(q15q31)[17]/46,XY[3]FISH analysis using EGR1/D5S23 probes showed a normal signal pattern, suggesting that the deletion did not encompass the EGR1 locus on 5q31.
Molecular analysis:
Interesting feature(s) of submitted case:
Occurrence of an MDS/MPD overlap disorder post solid organ transplantation in the absence of known cytotoxic therapy. Unusual, protracted clinical course with development of a nodal T-lymphoblastic lymphoma as a manifestation of blast crisis.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disease unclassifiable (MDS/MPD-U).
Panel diagnosis:
agree with proposed diagnosis
Comments:
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