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  • br Discussion To our knowledge we

    2019-04-24


    Discussion To our knowledge, we report for the first time t(8;21) acute myeloid leukemia presenting as severe aplastic anemia. t(8;21)(q22;q22) is present in 5–10% of all AMLs, and includes variety of subtypes with varying pathology, and clinical presentations, ranging from circulating blast in peripheral blood to absent blasts forms [5,8,9]. However, it is important to note that t(8;21) is not associated with bone marrow failure disorders. Our patient developed frank leukemia eight months following diagnosis; however, one may have predicted leukemia at the time of diagnosis of AA. While initial bone marrow biopsy lacked any cytogenetic abnormalities in 20 analyzed metaphases, repeat bone marrow biopsy eight days later demonstrated t(8;21) in 3 out of 20 metaphases. In this regard, analyzing 20 metaphases was not sufficient. Further complementary molecular tests, such as CGH, would likely provide a more robust diagnosis of hematopoietic diseases. Cytopenias are common in AML for unclear reasons. One accepted mechanism is physical replacement of normal hematopoietic stem order RGDfK (HSC) by myeloblasts, although blood counts may be affected in the absence of marrow morphology showing abundant blasts. Recently, Miraki-Moud et al. reported that leukemic cells inhibited hematopoiesis by producing cytokines that suppress differentiation of normal HSC and possibly reducing cycling of HSC [10]. Indeed, our patient showed severe bone marrow failure in the absence of myeloblasts. More sensitive assessment of chromosome aberrations likely will reveal similar cases.
    Conflict of interest
    Acknowledgments This work was supported by the Intramural Research Program of the National Heart, Lung, and Blood Institute of the National Institutes of Health (grant no. NCT01623167).
    A 66-year-old man presented to the emergency department with weakness and back pain. Remarkable laboratory results included a hemoglobin of 6.1g/dL (13.5–17.5g/dL) and creatinine of 17.3mg/dL (0.6–1.3mg/dL). Serum protein electrophoresis showed a gamma paraprotein spike demonstrated by immunofixation to be IgG lambda. Serum free lambda light chains were markedly elevated at 11,160mg/L (5.7–26.3mg/L). Bone marrow biopsy demonstrated 80% plasma cells with lambda light chain restriction, confirming the diagnosis of plasma cell myeloma (. Strikingly, both bone marrow (panel A) and renal (panel B) biopsies showed numerous, extracellular, eosinophilic, rectangular crystals measuring as large as several cell diameters and staining positive for lambda light chains (panel C) and negative for kappa light chains (panel D). Extracellular crystals have rarely been reported in plasma cell myeloma, and to our knowledge, only once previously demonstrated in both renal and bone marrow tissue from the same patient . The precise etiology of these crystals is unknown; however, they are thought to arise from the precipitation of light chains in certain cases. Our patient received plasmapheresis and hemodialysis, followed by a combination of steroids and bortezomib. Unfortunately, his disease progressed rapidly despite treatment, resulting in death from disease-related complications seven months after diagnosis. Conflicts of interest
    Case report We present a case of a man who initially presented at age of 34 with complaints of cough, malaise, fever and bone pain, thrombocytopenia 35×103/µL, anemia (hematocrit 23.9%) and leukocytosis 13.7×103/µL with 16% bands, but no other immature cells. Given his outdoor lifestyle and exposures an extensive infectious disease work up was performed including Lyme disease, Rocky Mountain Spotted Fever, anaplasmosis, babesiosis was negative. With worsening clinical status and LDH of 2730IU/L the patient had a bone marrow (BM) biopsy performed. The bone marrow was inaspirable, however core biopsy revealed 100% cellularity and blastic-looking cells with high nuclear to cytoplasmic ratio, prominent nucleoli, basophilic cytoplasm and cytoplastic vacuoles (see Fig. 1A and B). Interphase fluorescence in situ hybridization (FISH) revealed 72/100 nuclei carried an [email protected] rearrangement further confirming a high-grade Burkitt lymphoma (BL), no rearrangements were seen using BCL6 and BCL2 probes. Polymerase chain reaction showed IgH monoclonal band. At the same time CT scan showed a 4.2×4.9cm2 mass arising from the medial wall of the cecum, involving terminal ileum, an adjacent 5.0×3.7cm2 lymphnode mass was seen in the mesentery with extensive soft tissue nodularities in the omentum. His cerebrospinal fluid showed normal protein and glucose, negative cytology (2 specimens×2–3mL) and flow (sensitivity 10−4).