B-lymphoblastic leukemia/lymphoma associated with t(8;13)(p11;q12)/ ZMYM2 (ZNF198)-FGFR1 : rare case and review of the literature.

Myeloid and lymphoid neoplasms with fibroblastic growth factor receptor-1 (FGFR1) abnormalities originate from mutated pluripotent stem cells and have a heterogeneous clinical presentation. There are 12 identified partner genes commonly involved in FGFR1 translocation at an 8p11 breakpoint. In FGFR1-related neoplasms, T-lymphoblastic lymphoma with eosinophilia is the most common clinical scenario, whereas acute B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is rare. To date, only 7 cases of B-ALL/LBL with FGFR1 abnormalities have been reported. Here, we report an additional case of a 64-year-old gentleman with leukocytosis, eosinophilia and diffuse mediastinal and general lymphadenopathy. Bone marrow examination showed patchy infiltrates of immature precursors/blasts, along with myeloid/eosinophilic hyperplasia. Immunophenotyping confirmed increased B lymphoblasts (30-40%). Karyotyping revealed cytogenetic abnormalities, including t(8;13)(p11;q12)/ZMYM2 (ZNF198)-FGFR1 and trisomy 21. The patient did not respond to hyper-CVAD chemotherapy and within 4 months developed acute myelomonocytic leukemia and expired 11 months after the initial diagnosis. Similar cases from the literature are reviewed.

Screening for hemoglobinopathies during routine hemoglobin A1c testing using the Tosoh G7 Glycohemoglobin Analyzer.

Approximately 5.1% of the US population has diabetes mellitus, and hemoglobin (Hb) A1c levels are routinely measured to monitor long-term glycemic control in these patients. Many laboratories use ion exchange chromatography for such measurements, and the presence of hemoglobin variants and hemoglobinopathies often results in abnormal peaks on the chromatogram. The goal of this study was to evaluate the potential that detection of these abnormal peaks provides as a screening tool for Hb variants and hemoglobinopathies. We examined 366 specimens with abnormal peaks observed during routine Hb A1c measurements using the G7 Glycohemoglobin Analyzer (Tosoh Bioscience, Inc.). Hb variants and hemoglobinopathies were characterized by alkaline and acid electrophoresis, solubility testing for Hb S, and clinical parameters. In 252 cases, sickle cell trait was identified with a mean retention time (RT) of 1.44 (SD +/-0.02) min. In 82 cases, Hb C trait was identified with a mean RT of 1.66 +/-0.03 min. RTs for other Hb abnormalities, including sickle cell disease, homozygous Hb C disease, C Harlem trait, alpha-chain Hb variants, Hb D trait, Hb G trait, Hb J trait, Hb Raleigh, and Hb Lepore were also determined. Our results demonstrate that routine Hb A1c testing provides a potential screening tool for the detection of common hemoglobin variants and hemoglobinopathies. The previously unreported RTs for the G7 Glycohemoglobin Analyzer are provided, which can facilitate further testing in previously undiagnosed patients and confirm the cause of abnormal peaks in patients with known hemoglobin abnormalities.

A case of intraventricular primary central nervous system lymphoma.

We report a case of primary central nervous system lymphoma presenting as multiple intraventricular masses in an immunocompetent 68 year old man with severe headache and unsteady gait. The diagnosis was obtained by analysis of the cerebrospinal fluid and subsequent surgical biopsy. This is an unusual appearance for primary central nervous lymphoma, with the majority of the cases presenting as solitary masses.

Simultaneous manifestation of chronic lymphocytic leukemia (CLL) and hairy cell leukemia (HCL).

We report a unique case of 83-year-old Caucasian male with the initial simultaneous manifestation of chronic lymphocytic leukemia (CLL) and hairy cell leukemia (HCL). The patient presented with absolute lymphocytosis in the blood, asymptomatic generalized lymphadenopathy, and mild splenomegaly. The diagnosis of CLL was suggested from the blood film, but subsequent flow cytometric (FC) analysis on peripheral blood mononuclear cells (PBMNC) revealed two distinct abnormal clones of mature B cells. A small subpopulation (7%) of lymphoid cells expressed CD20, CD11c, FMC-7, CD103, CD25, and kappa surface light chain, consistent with HCL. The larger subpopulation (75%) of lymphoid cells expressed CD19, CD20, CD23, CD5, and lambda light chain, consistent with CLL. The expression of different immunoglobulin light chains on the circulating CLL (lambda) and HCL (kappa) cells suggested two, independent, malignant B-cell clones. Interestingly, FC analysis of bone marrow (BM) cells done 6 months later revealed bright lambda light chain expression on the HCL cells. Despite administration of several different courses of chemotherapy, the HCL subpopulation was not eliminated from the BM but remained stable between 7% and 10% of total BM lymphoid cells. The CLL, responsible for most of clinical symptoms in our patient, responded to combination chemotherapy with fludarabine and cytoxan, and later to monotherapy with rituximab.

Acute and delayed hemolytic transfusion reactions secondary to HLA alloimmunization.

BACKGROUND: HLA antibodies may be directed against HLA antigens on RBCs, but these antibodies are generally not considered to be clinically significant in transfusion practice. A case of a multiparous woman who had hemolytic transfusion reactions due to HLA-related Bg antibodies is reported. CASE REPORT: A 37-year-old woman was admitted with anemia. No unexpected RBC antibodies were identified. Two group O, D+ RBC units were transfused. Ten days later she returned with hemolysis and anemia. Two more RBC units were ordered, no unexpected RBC antibodies were identified, and two crossmatch-compatible units were issued. During the transfusion, the patient developed symptoms of an acute reaction, and the posttransfusion sample showed evidence of intravascular hemolysis. RESULTS: Repeat RBC antibody screen showed anti-Bg. HLA antibody screen identified anti-HLA-A2, A28, B7, B7 cross-reactive group (CREG). The two RBC units from the first transfusion episode and one RBC unit from the second transfusion episode were HLA incompatible with the patient. No other cause for the hemolytic reactions was identified. The patient was later successfully transfused with one RBC unit from an HLA-compatible donor. CONCLUSION: HLA antibodies should be considered in patients with hemolytic transfusion reactions when RBC-specific antibodies are not found to be the etiology.