2 documents found, page 1 of 1
Clinical-genomic profiling of MDS to inform allo-HCT: recommendations from an i...
Gurnari, Carmelo; Robin, Marie; Adès, Lionel; Aljurf, Mahmoud; Almeida, António M.; Duarte, Fernando Barroso; Bernard, Elsa; Cutler, CoreyFor patients with myelodysplastic neoplasm/syndrome (MDS), allogeneic hematopoietic cell transplantation (allo-HCT) represents the only potentially curative treatment, capable of eradicating disease-related mutant hematopoietic cells and establishing normal donor hematopoiesis. Biologic-assignment clinical trials have indicated that in eligible patients, allo-HCT is associated with superior clinical outcomes co...
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a Eur...
Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; Rimbert, AntoineHereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different laboratories. We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2...