Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based and Phased Variant Analysis.

Introduction: Longitudinal disease assessment by molecular techniques is not routine in hairy cell leukaemia (HCL). Combining and other genomic targets through next-generation sequencing (NGS) with phased variant analysis is a novel approach for disease detection in this setting.

Results: digital droplet PCR of paired peripheral blood and cell-free DNA (cfDNA) specimens detected residual disease in 15/48 and 6/48 specimens respectively from patients with HCL.

Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.

Germline homozygous loss-of-function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood. We describe four patients with heterozygous germline loss-of-function TET2 mutations who presented with B-cell lymphoma on a background of chronic lymphadenopathy and autoimmune features.

CAR T cells and time-limited ibrutinib as treatment for relapsed/refractory mantle cell lymphoma: the phase 2 TARMAC study.

CD19-directed chimeric antigen receptor T cells (CAR-T) achieve high response rates in patients with relapsed/refractory mantle cell lymphoma (MCL). However, their use is associated with significant toxicity, relapse concern, and unclear broad tractability. Preclinical and clinical data support a beneficial synergistic effect of ibrutinib on apheresis product fitness, CAR-T expansion, and toxicity.

Analysis of molecular cytogenetic changes in metastatic renal cell carcinoma in the setting of everolimus treatment: a pilot project.

Background: The mTOR inhibitors have improved outcomes for patients with metastatic renal cell carcinoma (mRCC) but the duration of benefit is variable. Currently there are no predictive biomarkers for preselecting patients who are more likely to benefit from these agents. We undertook an exploratory translational study evaluating molecular cytogenetic changes in the context of outcomes from treatment with everolimus.

How long do acute coronary syndrome patients wait for reperfusion, diagnostic coronary angiography and surgical revascularisation?

Aim: To describe the components of in-hospital waiting time to investigation and management in patients with acute coronary syndromes (ACS) admitted to the Middlemore Hospital (MMH) Coronary Care Unit.

Method: We examined the time to (1) reperfusion therapy in ST-elevation myocardial infarction (STEMI), (2) coronary angiography in ACS, and (3) surgical revascularisation. Data was collected prospectively for consecutive patients via the Acute PREDICT ACS registry.