ArticleBritish journal of haematology2016
Clonal architecture of CXCR4 WHIM-like mutations in Waldenström Macroglobulinaemia.
Article in British journal of haematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
What it found
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Who cites it
75 citing papers in PubMed, 135 citations in OpenAlex.
- Venetoclax in Previously Treated Waldenström Macroglobulinemia.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Trial
- Combining Ixazomib With Subcutaneous Rituximab and Dexamethasone in Relapsed or Refractory Waldenström's Macroglobulinemia: Final Analysis of the Phase I/II HOVON124/ECWM-R2 Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Trial
- Partial response or better at six months is prognostic of superior progression-free survival in Waldenström macroglobulinaemia patients treated with ibrutinib.British journal of haematology · 2021Trial
- Trial
- Detection of the MYD88Annals of hematology · 2020Trial
- Genomic evolution of ibrutinib-resistant clones in Waldenström macroglobulinaemia.British journal of haematology · 2020Trial
- Trial
- Acquired mutations associated with ibrutinib resistance in Waldenström macroglobulinemia.Blood · 2017Trial
- Detailed immunophenotypic and genetic characterization of bone marrow clonal plasma cells and B-cells in early-stage monoclonal gammopathies.Blood cancer journal · 2026Article
- WNK2 oncogenicity revealed by the discovery and functional characterization of novel gene isoforms in MYD88 mutated Waldenström's Macroglobulinemia.Blood cancer journal · 2026Article
- Decoding Waldenström Macroglobulinemia Through Genomics, Epigenomics and Cellular Interactions.International journal of molecular sciences · 2026Review
- Quantitative MYD88L265P and CXCR4S338X analysis to assess clinical trial performance in Waldenstrom macroglobulinemia.Blood advances · 2026Article
- Waldenström macroglobulinemia-associated renal AL amyloidosis: a case report and literature review.Frontiers in immunology · 2026Review
- Bing-Neel Syndrome in Waldenström Macroglobulinemia: Updates on Clinical Management and BTK Inhibitor Efficacy.Cancers · 2025Review
- Waldenström Macroglobulinemia: The Role of TP53 Mutations in Disease Progression and Therapeutic Response.Current issues in molecular biology · 2025Review
- Single-cell RNA sequencing defines distinct disease subtypes and reveals hypo-responsiveness to interferon in asymptomatic Waldenstrom's Macroglobulinemia.Nature communications · 2025Article
- Genomic and immune profiling of prognostic risk groups in IgM gammopathy reveals novel biomarkers beyondFrontiers in immunology · 2025Article
- Targeting BCL2 in Waldenström macroglobulinemia: from biology to treatment management.Frontiers in oncology · 2025Review
- Prognostic risk and survival of asymptomatic IgM monoclonal gammopathy: Results from a Spanish Multicenter Registry.HemaSphere · 2024Article
- Immunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.MedComm · 2024Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 8 institutions in 2 countries.
Funding
Abstract
CXCR4(WHIM) somatic mutations are distinctive to Waldenström Macroglobulinaemia (WM), and impact disease presentation and treatment outcome. The clonal architecture of CXCR4(WHIM) mutations remains to be delineated. We developed highly sensitive allele-specific polymerase chain reaction (AS-PCR) assays for detecting the most common CXCR4(WHIM) mutations (CXCR4(S338X C>A and C>G) ) in WM. The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing. By combined AS-PCR and Sanger sequencing, CXCR4(WHIM) mutations were identified in 44/102 (43%), 21/62 (34%), 2/12 (17%) and 1/20 (5%) untreated WM, previously treated WM, IgM MGUS and marginal zone lymphoma patients, respectively, but no chronic lymphocytic leukaemia, multiple myeloma, non-IgM MGUS patients or healthy donors. Cancer cell fraction analysis in WM and IgM MGUS patients showed CXCR4(S338X) mutations were primarily subclonal, with highly variable clonal distribution (median 35·1%, range 1·2-97·5%). Combined AS-PCR and Sanger sequencing revealed multiple CXCR4(WHIM) mutations in many individual WM patients, including homozygous and compound heterozygous mutations validated by deep RNA sequencing. The findings show that CXCR4(WHIM) mutations are more common in WM than previously revealed, and are primarily subclonal, supporting their acquisition after MYD88(L265P) in WM oncogenesis. The presence of multiple CXCR4(WHIM) mutations within individual WM patients may be indicative of targeted CXCR4 genomic instability.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.