Piers Blombery

Whole genome transcriptome sequencing in inherited bone marrow failure syndromes and related diseases – the ibmdx study

Lucy C. Fox, William G. Stevenson, Graham J. Lieschke, Nicole den Elzen et autres

Abstract Inherited bone marrow failure syndromes (IBMFS) are a group of monogenic diseases of diverse pathogenesis manifesting as single or multilineage cytopenia typically due to hypoproliferative dyshematopoiesis. Accurately diagnosing IBMFS is challenging given the overlapping clinicopathological features between individual genetic syndromes as …

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Advancing diagnostic targeted RNA sequencing for haematological malignancies within an Australian sample exchange program

Eric Wenlong Li, Ing Soo Tiong, Clare Gould, Alberto Catalano et autres

Targeted RNA-based next-generation sequencing (targeted RNA-Seq) is increasingly incorporated into oncogenic gene fusion diagnostics. The absence of external quality assurance programs presents a challenge to the quality management of this novel diagnostic methodology. Four Australian molecular diagnostics laboratories employing Archer FusionPlex or …

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Shared and distinct sequence-function signatures define different modes of human TpoR activation

Xinyu Wu, Harry McLeod, Anna Malinovitch, Sally M. Hunter et autres

ABSTRACT The human thrombopoietin receptor (hTpoR) exists primarily as JAK2-associated monomers that become activated when converted to dimeric forms that support JAK trans-phosphorylation. This can be achieved by several different modes of stimuli, including the natural ligand Tpo, biologic agonists that bind …

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Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease

Mandeep Singh, Raymond H. Y. Louie, Jerome Samir, Matthew A. Field et autres

Intestinal inflammation continues in a subset of patients with celiac disease despite a gluten-free diet. Here, by applying multi-omic single-cell analysis to duodenal biopsies, we found that low-grade malignancies with lymphoma driver mutations in patients with refractory celiac disease type 2 (RCD2) …

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Enhanced Disease Detection of Hairy Cell Leukaemia Through Next‐Generation Sequencing Based BRAFV600E and Phased Variant Analysis

Simon Wu, Tamia Nguyen, Imogen Caldwell, Sally M. Hunter et autres

ABSTRACT Introduction Longitudinal disease assessment by molecular techniques is not routine in hairy cell leukaemia (HCL). Combining BRAFV600E and other genomic targets through next‐generation sequencing (NGS) with phased variant analysis is a novel approach for disease detection in this setting. Results BRAFV600E …

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Response to venetoclax in patients with blastic plasmacytoid dendritic cell neoplasm

Kirsty Sharplin, Catherine Vassiliou, James Nguyen, Bryone J. Kuss et autres

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CAR+ T-Cell Lymphoma after Cilta-cel Therapy for Relapsed or Refractory Myeloma

Simon J. Harrison, Cyrille Touzeau, Nicolas Kint, Katherine Li et autres

-mutated T cells, followed by acquisition of further oncogenic genomic variants. Other potential contributors include germline genomic variation, viral infections, and previous treatment for myeloma. In the absence of direct evidence, the contribution of insertional mutagenesis to the development of T-cell lymphoma …

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Tranexamic acid versus placebo to prevent bleeding in patients with haematological malignancies and severe thrombocytopenia (TREATT): a randomised, double-blind, parallel, phase 3 superiority trial

Lise J Estcourt, Zoe McQuilten, Peter Bardy, Merrole Cole‐Sinclair et autres

Venetoclax-Based Measurable Residual Disease Directed Therapy in Acute Myeloid Leukemia Is Associated with Emergent TP53 Microclones in Remission

Ing Soo Tiong, Satwica Yerneni, Tamia Nguyen, Adam Ivey et autres

Venetoclax (VEN) combined with low-dose cytarabine (LDAC) is highly effective in acute myeloid leukemia (AML) with either measurable residual disease (MRD) or oligoblastic (5-15% blasts) relapse (VALDAC study) (Tiong et al, JCO 2024). We have previously shown that VEN-based therapy enhances selection …

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DNA Damage Repair Pathway Variants Are Frequent in Patients Undergoing CAR-T Cell Therapy for Lymphoma and Associated with Increased Risk of Myeloid Neoplasia Post Cytotoxic Therapy

Zhi Han Yeoh, Ing Soo Tiong, Mark R. Dowling, Hamish W Scott et autres

Background Specific cancer therapy exposure can promote expansion of clonal haematopoiesis (CH) in a gene-dependent manner, contributing to myeloid neoplasia post cytotoxic therapy (MN-pCT). Longer term follow-up for chimeric antigen receptor-T cell therapy (CAR-T) has revealed that MN-pCT following CAR-T is relatively …

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Response and Resistance to Menin Inhibitor in UBTF –Tandem Duplication AML

Ing Soo Tiong, Piers Blombery

Tandem duplication in UBTF is associated with a resistant form of AML. A menin inhibitor induced a short-lived response. Resistance was associated with mutations at the drug-binding site in MEN1 , which encodes menin 1.

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288: Mycosis Fungoides with Large Cell Transformation: Radiotherapy Dose Response and Patient Outcomes

Philippa Johnstone, Martin Higgins, H. Miles Prince, Stephen Lade et autres