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A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

We 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

Targeting the bone marrow microenvironment: a novel therapeutic strategy for pre-B acute lymphoblastic leukemia

Our findings shed light on the mechanisms of leukemia-induced bone loss

Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine Arabinoside

We report a term male with congenital acute erythroleukemia who achieved sustained remission with low-dose cytosine arabinoside alone

Drug find could represent big win for our little patients

Dr Rishi Kotecha knows too well the devastation of a leukaemia diagnosis in a child, treating children as a consultant at Princess Margaret Hospital.

Exploiting the reactive oxygen species imbalance in high-risk paediatric acute lymphoblastic leukaemia through auranofin

The prognosis for high-risk childhood acute leukaemias remains dismal and established treatment protocols often cause long-term side effects in survivors. This study aims to identify more effective and safer therapeutics for these patients.

Are outcomes for childhood leukaemia in Australia influenced by geographical remoteness and Indigenous race?

Presenting features, biology and outcome for childhood leukaemia are known to vary by ethnic origin, geographic location and socioeconomic group. This study aimed to compare presentation patterns, follow-up and clinical outcomes in Indigenous and non-Indigenous children with acute leukaemia in Australia, and to assess the impact of remoteness and area-based socioeconomic disadvantage on outcome.

RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemia

T cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with inferior outcome compared with that of B cell ALL. Here, we show that Runt-related transcription factor 2 (RUNX2) was upregulated in high-risk T-ALL with KMT2A rearrangements (KMT2A-R) or an immature immunophenotype. In KMT2A-R cells, we identified RUNX2 as a direct target of the KMT2A chimeras, where it reciprocally bound the KMT2A promoter, establishing a regulatory feed-forward mechanism.

Beyond bone: the emerging role of osteoclasts in immune regulation, leukemia development and following myeloablative therapy

Osteoclasts are important regulators of bone remodeling, with an established role in maintaining skeletal homeostasis. The emergence of osteoimmunology has identified osteoclasts as key players in the immune system. In particular, osteoclasts can initiate bi-directional crosstalk mechanisms with hematopoietic stem cells and various immune cells, such as T cells, B cells and NK cells, to influence hematopoiesis and inflammatory response.

Invasive fungal disease and antifungal prophylaxis in children with acute leukaemia: a multicentre retrospective Australian cohort study

Invasive fungal disease is a common and important complication in children with acute myeloid leukaemia (AML). We describe the epidemiology of IFD in a large multicentre cohort of children with AML.

Efficacy of DYRK1A inhibitors in novel models of Down syndrome acute lymphoblastic leukemia

Despite significant advances, outcomes for children with Down syndrome (DS, trisomy 21) who develop acute lymphoblastic leukemia remain poor. Reports of large DS-ALL cohorts have shown that children with DS have inferior event-free survival and overall survival compared to children without DS.