Cohesin mutations in acute myeloid leukemia

A Boucher, J Murray, S Rao - Leukemia, 2024 - nature.com
The cohesin complex, encoded by SMC3, SMC1A, RAD21, and STAG2, is a critical
regulator of DNA-looping and gene expression. Over a decade has passed since recurrent …

Neoantigens in cancer immunotherapy: focusing on alternative splicing

P Huang, F Wen, N Tuerhong, Y Yang, Q Li - Frontiers in Immunology, 2024 - frontiersin.org
Alternative splicing (AS) functions as a crucial program in transcriptional modulation, leading
to proteomic diversity and functional alterations of proteins. These splicing actions induce …

STAG2 mutations reshape the cohesin-structured spatial chromatin architecture to drive gene regulation in acute myeloid leukemia

A Fischer, B Hernández-Rodríguez, R Mulet-Lazaro… - Cell Reports, 2024 - cell.com
Cohesin shapes the chromatin architecture, including enhancer-promoter interactions. Its
components, especially STAG2, but not its paralog STAG1, are frequently mutated in …

Emerging roles of cohesin-STAG2 in cancer

JS Scott, L Al Ayadi, E Epeslidou, RH van Scheppingen… - Oncogene, 2024 - nature.com
Cohesin, a crucial regulator of genome organisation, plays a fundamental role in
maintaining chromatin architecture as well as gene expression. Among its subunits, STAG2 …

Efficacy and safety of bemcentinib in patients with advanced myelodysplastic neoplasms or acute myeloid leukemia failing hypomethylating agents-the EMSCO phase …

AS Kubasch, P Peterlin, T Cluzeau, KS Götze, K Sockel… - Leukemia, 2023 - nature.com
Hypomethylating agents (HMAs) are the standard of care for patients with higher-risk
myelodysplastic neoplasms (HR-MDS) and, in combination with venetoclax, for patients with …

Precision Medicine Approaches in Acute Myeloid Leukemia with Adverse Genetics

N Santoro, P Salutari, M Di Ianni, A Marra - International Journal of …, 2024 - mdpi.com
The treatment of acute myeloid leukemia (AML) with adverse genetics remains
unsatisfactory, with very low response rates to standard chemotherapy and shorter durations …

Secondary-Type Mutations in Acute Myeloid Leukemia: Updates from ELN 2022

IM Bouligny, KR Maher, S Grant - Cancers, 2023 - mdpi.com
Simple Summary Therapeutic advances in acute myeloid leukemia (AML) are dependent on
identifying and targeting the molecular aberrations that drive disease. The European …

Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes

JC Jann, CB Hergott, M Winkler, Y Liu, B Braun… - Leukemia, 2024 - nature.com
Mutations in the cohesin complex components (STAG2, RAD21, SMC1A, SMC3, and
PDS5B) are recurrent genetic drivers in myelodysplastic neoplasm (MDS) and acute …

A CD8+ T cell related immune score predicts survival and refines the risk assessment in acute myeloid leukemia

Z Li, P Jin, R Xiang, X Li, J Shen, M He, X Liu… - Frontiers in …, 2024 - frontiersin.org
Although advancements in genomic and epigenetic research have deepened our
understanding of acute myeloid leukemia (AML), only one-third of patients can achieve …

The consequences of cohesin mutations in myeloid malignancies

SA Bhattacharya, E Dias, A Nieto-Aliseda… - Frontiers in Molecular …, 2023 - frontiersin.org
Recurrent somatic mutations in the genes encoding the chromatin-regulatory cohesin
complex and its modulators occur in a wide range of human malignancies including a high …