No. 108 (6)
2021 CiteScore: 11.8 2021 Impact Factor: 11.04
Monoclonal gammopathy of increasing significance: time to screen?
ARTICLES IN THREE SENTENCES
IELSG40/CLEO phase II trial of clarithromycin and lenalidomide in relapsed/refractory extranodal marginal zone lymphoma
Currently, there is not a single standard of care for patients with relapsed/refractory (R/R) marginal zone lymphoma (MZL). Pirosa and colleagues present results of a phase II trial to investigate efficacy and safety of a full oral combination of clarithromycin plus lenalidomide in R/R MZL. They found that this treatment was moderately active, with a favorable safety profile and efficacy analogous to that reported for other approved oral drugs.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
Inherited erythrocytosis can depends by the dysregulation of the hypoxia pathway and consequent high level of EPO production. Karaghiannis and colleagues performed combined in silico, segregation and functional studies of a European collection of 41 patients and 28 relatives with erythrocytosis with variants of EPAS1, that encodes the hypoxia-inducible factor-2 α (HIF-2α), a major player in the hypoxia pathway. The aim was to determine the causal role of genetic variants, and identify potential candidates eligible for the new HIF-2α inhibitor treatment. Altogether, their study allows accurate clinical follow-up of patients and opens the possibility of a HIF-2α inhibitor treatment, the only targeted treatment in hypoxia-related erythrocytosis.
Therapeutic potential of fetal liver cell transplantation in hemophilia A mice
Many attempts have been made to develop long-term treatment for hemophilia A (HA) by using cell and/or gene therapy strategies. However, so far clinical trials have included only adult HA patients and studies are required for the treatment of early age/neonate HA patients. Merlin and colleagues investigate the engraftment of fetal liver hemato/vascular cells in newborn HA mice and obtain a suitable “proof of concept” that cell therapy can be used in pediatric hemophilic patients.
Somatic genetic alterations predict hematological progression in GATA2 deficiency
Eighty percent of GATA2-deficient patients develop hematological disorders before the age of 40 resulting from the progressive acquisition of additional somatic mutations. In their study, Largeaud and colleagues describe clinical and biological features of 78 GATA2-deficient patients, who were classified into three hematopoietic spectra based on bone marrow cytomorphology. They found that STAG2, SETBP1, RAS pathway and RUNX1 mutations were associated with the clinical/hematological evolution of GATA2 syndrome.
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