European journal of haematology
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Congenital erythrocytosis can be classified as primary, when the defect is intrinsic to the RBC progenitors and independent of the serum erythropoietin (Epo) concentration, or secondary, when the erythrocytosis is the result of an upregulation of Epo production. Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene - VHL, EGLN1, EPAS1. Chuvash polycythemia, caused by mutations in VHL gene, shares features of both primary and secondary erythrocytosis, with increased Epo production but also hypersensitivity of progenitors to Epo. ⋯ High-affinity hemoglobin variants are a very rare cause of secondary CE, but it seems likely that their incidence may be underestimated. Our experience shows that in erythrocytosis with a dominant inheritance and normal or inappropriate high Epo levels, the HBB and HBA genes should be the first to be studied. In spite of the seven genes known to be involved in CE, the majority of the cases have unknown etiology.
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We retrospectively compared the antileukemic effects of chemotherapy alone and chemotherapy followed by modified donor lymphocyte infusion (DLI) in 82 patients with relapsed acute leukemia after haploidentical hematopoietic stem cell transplantation (HSCT) without in vitro T-cell depletion. We also investigated prognostic factors in patients receiving chemotherapy followed by modified DLI. Thirty-two patients received chemotherapy alone, and the remaining 50 patients received chemotherapy followed by modified DLI. ⋯ Furthermore, in patients receiving chemotherapy followed by modified DLI, multivariate analysis demonstrated that chronic GVHD after modified DLI (P = 0.039) and duration of minimal residual disease (MRD) (-) ≥4 months after modified DLI (P = 0.001) were associated with a lower relapse rate. Our study is the first to suggest that chemotherapy followed by modified DLI is associated with stronger antileukemic effects and better survival in relapsed acute leukemia after haploidentical HSCT without in vitro T-cell depletion. Furthermore, our study suggests that lack of chronic GVHD and duration of MRD (-) <4 months after modified DLI are associated with higher relapse rates in patients receiving chemotherapy followed by modified DLI.
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The estimation of glomerular filtration rate (eGFR) in multiple myeloma (MM) is based on equations that use serum creatinine (sCr), such as the Modification of Diet in Renal Disease (MDRD) equation. However, the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) group has suggested that eGFR based on both sCr and cystatin C (CKD-EPI-sCr-CysC) is more accurate than other formulae for the estimation of kidney dysfunction. The aim of this study was to prospectively evaluate, for the first time in the literature, the CKD-EPI-sCR-CysC formula in newly diagnosed patients with symptomatic MM. ⋯ Our results suggest that equations based on CysC reveal higher number of MM patients with RI compared with equations based only in sCr. Furthermore, the CKD-EPI-CysC formula independently predicted for survival. Based on these data, we suggest that CKD-EPI equations based on CysC should substitute MDRD, as it has been suggested for patients with several other renal disorders.
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Fludarabine, cyclophosphamide and rituximab (FCR) therapy for lymphoid malignancies has historically been associated with a low reported incidence of Pneumocystis jirovecii pneumonia (PJP). However, prophylaxis was routinely used in early studies, and molecular diagnostic tools were not employed. The objective of this study was to review the incidence of PJP during and post-FCR in the era of highly sensitive molecular diagnostics and (18) F-fluorodeoxyglucose (FDG) positron emission tomography (PET)-computerised tomography (CT). ⋯ Given the high rate of late-onset PJP, consideration should be given for extended PJP prophylaxis for up to 12 months post-FCR, particularly in pretreated patients. Further evaluation of the role of CD4(+) monitoring is warranted to quantify risk of disease development and to guide duration of prophylaxis.
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Case Reports
Acquisition of t(11;14) in a patient with chronic lymphocytic leukemia carrying both t(14;19)(q32;q13.1) and +12.
A rare recurrent chromosomal translocation, t(14;19)(q32;q13), has been identified in a variety of B-cell malignancies, including chronic lymphocytic leukemia (CLL). We report a unique case of CLL in a patient carrying both trisomy 12 and t(14;19) (q32;q13.1), in whom t(11;14)(q13;q32) developed at relapse. The patient was a 77-yr-old woman, and her lymphoma cells at presentation showed CD5(+), CD10(-), CD19(+), CD20(+)(dim), CD23(+), CD38(+), and CD11c(+). ⋯ Split FISH assay using BCL1, BCL3, IGH, and CCND1 probes on lymph node specimens obtained at presentation and at autopsy confirmed that the translocation of BCL3 was solely detected in the lymph node at presentation and detected BCL3 and CCND1 translocations in the specimen at autopsy. These observations indicated that IGH-BCL3 and IGH-CCND1 had occurred in the same clone after treatment of the disease. In line with immunohistochemical and cytogenetic studies, additional PCR analysis of the FR3-JH region showed the same sequence derived from IGHV4-34 in specimens obtained at disease onset and relapse.