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.