| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 098 |
Submitter(s): Dinesh S. Rao, Jonathan W. Said, Nagesh P. Rao.
Clinical history
The patient is a 52 year old Latina female who initially presented mild leukocytosis and thrombocytopenia. Peripheral blood smears showed hypogranular PMNs, occasional Pelger-Huet cells, microcytic hypochromic RBCs with no fragments or spherocytes, and a few large platelets. After starting iron replacement therapy, she developed pneumonia. The patient remained fatigued with near-syncopal episodes, and developed a hematoma and echymoses on the left flank, as well as subcutaneous nodules on the abdomen and right leg swelling. Due to her continued thrombocytopenia and the results of the bone marrow studies, the patient was referred to our institution for clinical and pathologic evaluation. Physical exam was only remarkable for the above findings.
No prior oncologic history. No current medications.
Laboratory testing and imaging:
WBC 17,500 (ANC 12000) on presentation to outside hospital.
At our institution, WBC 11,870 (differential 63% neutrophils, 17% bands, 1% metamyelocytes, 1% myelocytes, 6% lymphocytes, 11% monocytes), Hgb 9.0, Platelets 21,000, MCV 75.1.
SPEP and IFE, negative; HIV-negative, normal lead levels, mildly positive ANA.
Spleen scan showed normal sized spleen.
Details of gross/microscopic pathology:
Peripheral blood smear showed leukocytosis with granulocytic left shift and readily identifiable pseudo-Pelger-Huet cells. Erythrocytes showed scattered teardrop forms and nucleated forms with marked thrombocytopenia.
The bone marrow aspirate smears showed myeloid preponderance and left shift with marked dysplastic changes in the myeloid series. Megakaryocytes showed dysplastic and atypical forms as well. Scattered dysplastic changes were identified in the erythroid lineage. Rare ringed sideroblasts were present on iron stains.
The bone marrow biopsy sections showed multilineage dysplasia, atypical and dysplastic megakaryocytosis, as well as reticulin fibrosis.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometric findings: CD34+/CD117+ cells account for about 2% of the total cells. Granulocytes did not show abnormalities of CD11b, CD16, or CD10 expression.
Immunohistochemical studies showed no increase in CD34+/CD117+ cells, highlighted myeloid left shift and atypical megakaryocytosis, and no increase in Lysozyme+ monocytic lineage cells.
Cytogenetics:
Conventional karyotype: 46,XX,del(20)(q11.2) in 20/20 cells analyzed
FISH Studies showed 20q12 deletion (76% of cells), negative for BCR-ABL translocation.
Molecular analysis:
JAK2 mutation negative.
PCR for BCR-ABL (outside hospital) was negative in peripheral blood.
Interesting feature(s) of submitted case:
Overall ,the features are consistent with a myelodysplastic/myeloproliferative syndrome. The presence of reticulin fibrosis is concerning for a myeloproliferative process. The main issue is how to classify these rare cases.
Proposed diagnosis:
Myelodysplastic/Myeloproliferative disorder. The differential includes atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative syndrome, not otherwise specified.
Panel diagnosis:
agree with proposed diagnosis; borderline chronic myelomonocytic leukemia
Comments:
Additional information from the submitter: Iron replacement therapy did not improve the hemoglobin level. Reticuloendothelial iron stores were adequate per the iron stain. Other possible etiologies for microcytic hypochromic anemia include anemia of chronic disease. However, more significantly, the patient developed AML approximately 4 months after the initial marrow. The AML demonstrated expression of immature monocytic markers and partial aberrant expression of CD2. There was also evidence of clonal evolution as the AML cells had additional abnormalities (trisomy 5q; monosomy 12p) in addition to the 20q deletion detected previously. The patient is now undergoing induction chemotherapy.
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