| Session: Myelodysplastic syndrome |
| Case number: 115 |
Submitter(s): Olga Pozdnyakova, Sa A. Wang, Bruce A. Woda, Suyang Hao.
Clinical history
69-year-old male presented with 1-week history of fever, confusion and pancytopenia. Shortly before hospitalization, he and his wife had flu-like symptoms that were not treated. His wife recovered without any intervention. The patient's past medical history was remarkable for myelodysplastic syndrome (MDS)-refractory anemia (RA) that was treated with erythropoietin.
CBC at admission: WBC (0.9 x 103/ml), RBC (2.9 x 103/ml), platelet (47 x 103/ml), and absolute neutrophil count (0.3 x 103/ml). LDH (2024 IU/l), triglycerides (391 mg/dL), ferritin (>15000 ng/mL) and fibrinogen (77.7 mg/dL). Extensive workup for various infection was unrevealing.
The patient was treated with methylprednisolone, etoposide and cyclosporin according to the American Histiocytosis Society treatment protocol. He showed an excellent response.
Details of gross/microscopic pathology:
Bone marrow (BM) biopsy, clot and touch imprints were obtained. The biopsy was fixed in formalin and decalcified with Immunocal™.
Biopsy and clot section are hypercellular (70% -90%) and diffusely infiltrated by mononuclear cells with abundant pale cytoplasm - figures1,3, admixed with small lymphocytes. The hematopoietic elements were reduced with occasional dysplastic megakaryocytes- figure2. On touch imprint, occasional hemophagocytic histiocytes with engulfed anucleated and nucleated red blood cells were seen. Mild dyserythropoiesis was noted -figures6,7.
His BM one year prior to this hospitalization showed hypercellularity with morphologic features consistent with MDS-RA. His follow-up BM biopsy 5 months post treatment showed cellularity of 50% with persistent myelodysplastic syndrome.
Immunophenotype (flow cytometry/immunohistochemistry):
Immunostains were performed on the clot section. The pale cells were positive for CD4, CD43, and CD68 -figure4, confirming the histiocytic origin. The lymphocytes are CD3 positive T-cells. The estimated proliferative rate of histiocytes (demonstrated by Ki-67) was 15-20% -figure5.
Cytogenetics:
47,XY,+8,add(9)(p23)[2]/46,XY[19]
Retrospective interphase FISH analysis for chromosome 8 abnormalities on patient's previous diagnostic BM for MDS was performed. No trisomy 8 was identified.
The follow-up BM also showed a normal karyotype.
Molecular analysis:
Interesting feature(s) of submitted case:
We report a case of hemophagocytic lymphohistiocytosis (HLH) that developed in a patient with MDS. HLH is a rare disease. HLH associated with MDS is even rarer with only a few cases reported in the literature. Diagnosis of HLH in MDS patient can be difficult due to overlapping symptom of pancytopenia and HLH can be mistaken for MDS transforming to acute leukemia. In addition, transient chromosomal abnormalities, such as trisomy 8 in our case, can occur as a result of acute marrow insult, which may cause diagnostic confusion.
Proposed diagnosis:
Hemophagocytic lymphohistiocytosis and coexisting Myelodysplastic syndrome.
Panel diagnosis:
Myelodysplastic syndrome
Comments:
Panel comment: Diagnosis of hemophagocytic lymphohistiocytosis not supported.
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