| Session: Ph- chronic myeloproliferative disease |
| Case number: 102 |
Submitter(s): Ami D. Goradia, Dennis B. Cornfield.
Clinical history
A 39-year old man with prominent pelvic lymphadenopathy was diagnosed with precursor T lymphoblastic lymphoma. He was treated with hyper-CVAD and then the Larson regimen and achieved a good partial response. Six months after diagnosis, it was noted that his white blood count was persistently elevated. CBC showed hemoglobin 11.2 g/dL; platelet count 118,000/ml; and WBC 18,500/ml with 32% neutrophils, 13% bands, 4% metamyelocytes, 2% myelocytes, 15% monocytes, 9% eosinophils, and 25% lymphocytes.
Details of gross/microscopic pathology:
Biopsy of an inguinal lymph node showed a diffuse infiltrate composed of intermediate-sized mononuclear cells with scant cytoplasm and large round nuclei with fine chromatin, suggestive of hematopoietic blasts. Large numbers of eosinophils were admixed with the neoplastic cells.[figure1]Bone marrow aspirate and biopsy showed no overt abnormalities
6 months later:
Peripheral blood smear confirmed a prominent myeloid left shift, monocytosis and eosinophilia.
Bone marrow aspirate and biopsy showed a hypercellular (~90%) marrow with left-shifted granulopoiesis, marked dysplasia of the erythroid and myeloid lineages, and moderate eosinophilia. Blasts were not increased.[figure2][figure3][figure4]An iron stain showed an increase in ringed sideroblasts.
Immunophenotype (flow cytometry/immunohistochemistry):
Immunohistochemical stains and flow cytometric analysis of the inguinal lymph node demonstrated that the malignant cells were positive for CD2, CD5, CD7, tdt, and co-expressed CD4 and CD8, findings consistent with precursor T lymphoblastic lymphoma (T-LBL).
Cytogenetics:
Cytogenetic analysis of the bone marrow aspirate: 47 XY, t(8;13)(p11;q12), +21 [20].
Molecular analysis:
Interesting feature(s) of submitted case:
The occurrence of a myeloproliferative disorder in association with an aggressive lymphoproliferative disorder is distinctly unusual. The 8p11 myeloproliferative syndrome (EMS), is a rare condition characterized by the presence of an atypical, bcr/abl-negative myeloproliferative disorder in close association with an aggressive lymphoma, usually T-LBL which does not involve the mediastinum. Significant eosinophilia may be present in the peripheral blood or affected tissues. Similar to CML, the myeloproliferative aspect has a chronic phase which transforms to a myeloblastic phase, typically within one year of diagnosis. The acute leukemia is resistant to conventional chemotherapy. The characteristic chromosomal translocation always involves the fibroblast growth factor receptor 1 (FGFR1) gene at chromosome 8p11. The translocation leads to constitutive activation of the fused cytoplasmic tyrosine kinase domain of the FGFR-1 protein, a feature which may be exploited as a therapeutic target.
Proposed diagnosis:
Due to the prior diagnosis of T-LBL and the chromosomal karyotype, it was concluded that the patient had the 8p11 myeloproliferative syndrome.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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