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Article

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.

Blood - 20 May 2021

Klintman Jenny, Appleby Niamh, Stamatopoulos Basile, Ridout Katie, Eyre Toby A, Robbe Pauline, Pascua Laura Lopez, Knight Samantha J L, Dreau Helene, Cabes Maite, Popitsch Niko, Ehinger Mats, Martín-Subero Jose I, Campo Elías, Månsson Robert, Rossi Davide, Taylor Jenny C, Vavoulis Dimitrios V, Schuh Anna

Abstract excerpt

The transformation of chronic lymphocytic leukemia (CLL) to high-grade B-cell lymphoma is known as Richter syndrome (RS), a rare event with dismal prognosis. In this study, we conducted whole-genome sequencing (WGS) of paired circulating CLL (PB-CLL) and RS biopsies (tissue-RS) from 17 patients recruited into a clinical trial (CHOP-O). We found that tissue-RS was enriched for mutations in poor-risk CLL drivers...

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Source

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Identifiers

PMID: 33206936
DOI: 10.1182/blood.2020005650
PMCID: PMC8163497

Genes

BTG2
CXCR4
FCRL3
NFATC1
PAX5
PTPRD
SELL
SLC44A5
TNIP2
TRAF3
TRIM13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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