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Research
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Immunogenicity and safety of single-dose, 13-valent pneumococcal conjugate vaccine in pediatric and adolescent oncology patientsAll children who are receiving therapy for cancer should receive a single dose of PCV13 as soon as possible after diagnosis, regardless of prior PCV exposure.
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Validation of a mouse xenograft model system for gene expression analysis of human acute lymphoblastic leukaemiaPre-clinical models that effectively recapitulate human disease are critical for expanding our knowledge of cancer biology and drug resistance mechanisms.
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Bioenergetic modulation overcomes glucocorticoid resistance in T-lineage acute lymphoblastic leukaemiaDrug-resistant forms of acute lymphoblastic leukaemia (ALL) are a leading cause of death from disease in children.
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Hypomethylation of the CTGF gene locus is a common feature of paediatric pre-B acute lymphoblastic leukaemiaWe identified consistent hypomethylation of the CTGF locus in primary pre-B ALL specimens regardless of CTGF expression.
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Heterogeneity in mechanisms of emergent resistance in pediatric T-cell acute lymphoblastic leukemiaBiological changes associated with T-ALL relapse and resistance are stochastic and highly individual
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High Expression of NTRK1 in ETV6::RUNX1 Positive Acute Lymphoblastic Leukaemia Drives Factor Independence and Sensitivity to LarotrectinibETV6::RUNX1 is one of the most common recurrent genomic abnormalities in acute lymphoblastic leukaemia (ALL) and is associated with a good prognosis. High expression of NTRK1, encoding tropomyosin receptor kinase A (TrkA), confers a poor prognosis in other malignancies and may contribute to therapy resistance in patients with ETV6::RUNX1 B-ALL.
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Imaging of Abdominal Complications in Children With Acute Lymphoblastic LeukaemiaAcute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer-related death in children and adolescents. Five-year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens.
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Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemiaIt is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute leukemia affecting both the myeloid (ML-DS) and lymphoid (DS-ALL) lineages. ML-DS is associated with a good prognosis compared to children without DS, due in part to a higher sensitivity to conventional chemotherapy.
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Immunogenicity of the inactivated influenza vaccine in children who have undergone allogeneic haematopoietic stem cell transplantThis study provides evidence to support annual inactivated influenza vaccine administration to children following allogeneic haematopoietic stem cell transplant