Richter syndrome: Novel insights into the biology of transformation

EM Parry, E Ten Hacken, CJ Wu - Blood, The Journal of the …, 2023 - ashpublications.org
Although the genetic landscape of chronic lymphocytic leukemia (CLL) has been broadly
profiled by large-scale sequencing studies performed over the past decade, the molecular …

[HTML][HTML] From genetics to therapy: Unraveling the complexities of Richter transformation in chronic lymphocytic leukemia

P Abrisqueta, F Nadeu, J Bosch-Schips… - Cancer Treatment …, 2023 - Elsevier
Richter transformation (RT) refers to the progression of chronic lymphocytic leukemia, the
most prevalent leukemia among adults, into a highly aggressive lymphoproliferative …

Evolutionary history of transformation from chronic lymphocytic leukemia to Richter syndrome

EM Parry, I Leshchiner, R Guièze, C Johnson… - Nature medicine, 2023 - nature.com
Richter syndrome (RS) arising from chronic lymphocytic leukemia (CLL) exemplifies an
aggressive malignancy that develops from an indolent neoplasm. To decipher the genetics …

[HTML][HTML] Pan-cancer analysis of post-translational modifications reveals shared patterns of protein regulation

Y Geffen, S Anand, Y Akiyama, TM Yaron, Y Song… - Cell, 2023 - cell.com
Post-translational modifications (PTMs) play key roles in regulating cell signaling and
physiology in both normal and cancer cells. Advances in mass spectrometry enable high …

SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation

CW Chen, L Zhang, R Dutta, A Niroula, PG Miller… - Cell Stem Cell, 2023 - cell.com
Somatic mutations accumulate in all cells with age and can confer a selective advantage,
leading to clonal expansion over time. In hematopoietic cells, mutations in a subset of genes …

Chronic lymphocytic leukemia patient-derived xenografts recapitulate clonal evolution to Richter transformation

H Playa-Albinyana, F Arenas, R Royo, A Giró… - Leukemia, 2024 - nature.com
Chronic lymphocytic leukemia (CLL) is a B-cell neoplasm with a heterogeneous clinical
behavior. In 5–10% of patients the disease transforms into a diffuse large-B cell lymphoma …

NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia

A Bonato, S Chakraborty, R Bomben, G Canarutto… - Leukemia, 2024 - nature.com
Loss-of-function mutations in NFKBIE, which encodes for the NF-κB inhibitor IκBε, are
frequent in chronic lymphocytic leukemia (CLL) and certain other B-cell malignancies and …

In Vivo Modeling of CLL Transformation to Richter Syndrome Reveals Convergent Evolutionary Paths and Therapeutic Vulnerabilities

E Ten Hacken, T Sewastianik, S Yin, GB Hoffmann… - Blood cancer …, 2023 - AACR
Transformation to aggressive disease histologies generates formidable clinical challenges
across cancers, but biological insights remain few. We modeled the genetic heterogeneity of …

Precision diagnostics in chronic lymphocytic leukemia: Past, present and future

J Mollstedt, L Mansouri, R Rosenquist - Frontiers in Oncology, 2023 - frontiersin.org
Genetic diagnostics of hematological malignancies has evolved dramatically over the years,
from chromosomal banding analysis to next-generation sequencing, with a corresponding …

Novel precision medicine approaches and treatment strategies in hematological malignancies

R Rosenquist, E Bernard, T Erkers… - Journal of Internal …, 2023 - Wiley Online Library
Genetic testing has been applied for decades in clinical routine diagnostics of hematological
malignancies to improve disease (sub) classification, prognostication, patient management …