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Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an(More)
PURPOSE Data on non-fermentative Gram-negative rods (NFGNR) bacteremia in children with malignancies are limited. The aim of this study was to present clinical picture, antimicrobial susceptibility pattern, risk factors for resistance and outcome in NFGNR bacteremia in children with cancer. METHODS All episodes of NFGNR bacteremia occurring during(More)
Very severe aplastic anemia is a well-defined life-threatening disease causing significant morbidity and mortality. Major causes of poor outcome include unresponsiveness to first-line immunosuppressive treatment (IST), infection, bleeding and absence of matched donor for hematopoietic SCT (HSCT). Here, we present a pediatric patient with very severe(More)
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