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BIOMARKER:

CXCR4 mutation

i
Other names: CXCR4, CD184, D2S201E, fusin, HM89, HSY3RR, LESTR, NPY3R, NPYR, NPYY3R, Chemokine (C-X-C motif) receptor 4
Entrez ID:
Related biomarkers:
12ms
Comprehensive characterization of high-risk coding and non-coding single nucleotide polymorphisms of human CXCR4 gene. (PubMed, PLoS One)
A molecular docking study revealed the significant impact of the H113P variant on the protein-ligand binding affinity, supported by MD simulation over 100 nanoseconds, which highlighted substantial stability differences between wild-type and H113P mutated proteins during ligand binding. This comprehensive analysis shed light on the potential functional consequences of genetic variation in the CXCR genes, offering valuable insights into the implications of disease susceptibility and may pave the way for future therapeutic interventions.
Journal
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CXCR4 (Chemokine (C-X-C motif) receptor 4)
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CXCR4 mutation
12ms
CD23 expression in lymphoplasmacytic lymphoma: Clinical-pathological and biological correlations. (PubMed, Histopathology)
Partial positivity for CD23 is a common feature of LPL in the BM. Together with other clinical and histological parameters, CD23 expression supports the differential diagnosis between LPL and MZL.
Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • CD5 (CD5 Molecule) • MME (Membrane Metalloendopeptidase) • FCER2 (Fc Fragment Of IgE Receptor II)
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CXCR4 mutation • MYD88 mutation + CXCR4 mutation
12ms
Indolent Lymphoma: Well Tolerated, Fixed Duration Treatment Involving Bendamustine, Rituximab and Acalabrutinib for Front-Line Waldenström's Macroglobulinaemia That Induce Deep Clinical Responses (ASH 2024)
Uni- and multi-variate analyses of clinical variables that may be associated with clinical and MRD outcomes are underway.Conclusions : Bendamustine, rituximab and acalabrutinib front-line therapy for WM is safe and well tolerated in a relatively elderly population with a toxicity profile consistent with the utilized drugs and not greater than that seen with BR and Placebo in the randomized ECHO trial in untreated Mantle Cell Lymphoma. Initial clinical results show that this treatment is associated with a very high proportion of CR + VGPRs as well as MRD negativity.
Clinical
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TP53 (Tumor protein P53) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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TP53 mutation • MYD88 L265P • CXCR4 mutation
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clonoSEQ
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Rituxan (rituximab) • Calquence (acalabrutinib) • bendamustine
1year
Six-year follow-up of phase II study exploring chemo-free treatment association with idelalisib and obinutuzumab in symptomatic relapsed/ refractory patients with Waldenström's macroglobulinemia. (PubMed, Ann Hematol)
We present the 6-year update of a phase 2 study evaluating the combination of obinutuzumab and idelalisib in relapse/refractory Waldenstrom macroglobulinemia. Moreover, ibrutinib remains an effective treatment after this combination. This study was registered on the clinicaltrial.gov web (NCT02962401, November 9, 2016).
P2 data • Journal
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TP53 (Tumor protein P53) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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TP53 mutation • CXCR4 mutation
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Imbruvica (ibrutinib) • Gazyva (obinutuzumab) • Zydelig (idelalisib)
1year
Impact of chromosomal aberrations detected by chromosome banding analysis in symptomatic Waldenström's macroglobulinemia. (PubMed, Ann Hematol)
With a median follow-up of 73 months, the median TTNT in patients with and without CAs was 27 and 68 months, respectively. CAs with CBA may be associated with clinical aggressiveness and shorter TTNT in sWM.
Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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MYD88 L265P • CXCR4 mutation
1year
Determination of MYD88 and CXCR4 mutation for clinical detection and their significance in Waldenström macroglobulinemia. (PubMed, Clin Cancer Res)
Testing for MYD88 mutations using AS-PCR or ddPCR in unsorted samples is viable for routine clinical practice. Under BTKi treatment, MYD88 and CXCR4 mutations hold greater prognostic importance than IPSSWM staging in WM.
Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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MYD88 mutation • CXCR4 mutation • MYD88 mutation + CXCR4 mutation
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Rituxan (rituximab) • bortezomib
1year
Diagnosis and Risk Stratification in Waldenström Macroglobulinemia. (PubMed, J Natl Compr Canc Netw)
The discovery of the recurrent MYD88L265P gain-of-function point mutation and the subclonal CXCR4 mutations has helped improve our understanding of the WM biology, and the prognostic impact of these mutations is under evaluation, with somewhat inconsistent findings thus far across studies. This review discusses the clinical presentation, diagnostic criteria, and prognostic markers of WM.
Review • Journal
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CXCR4 (Chemokine (C-X-C motif) receptor 4)
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MYD88 L265P • CXCR4 mutation
over1year
Increased Susceptibility of WHIM Mice to Papillomavirus-induced Disease is Dependent upon Immune Cell Dysfunction. (PubMed, PLoS Pathog)
Finally, we demonstrate that transplantation of bone marrow from wild type mice into WHIM mice normalized the incidence and size of papillomas, consistent with the WHIM mutation in hematopoietic cells contributing to higher susceptibility of WHIM mice to MmuPV1-induced disease. Our results provide evidence that MmuPV1 infection in WHIM mice is a powerful preclinical infectious model to investigate treatment options for alleviating papillomavirus infections in WHIM syndrome.
Preclinical • Journal • Immune cell
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CXCR4 (Chemokine (C-X-C motif) receptor 4)
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CXCR4 mutation
over1year
New classifications of malignant lymphomas - What changes are relevant for practice? (PubMed, Dtsch Med Wochenschr)
Indolent T-cell lymphomas/lymphoproliferations of the GI tract are rare but must be differentiated from aggressive T-cell lymphomas. The WHO-HAEM5 also includes reactive/non-neoplastic lymph node lesions classified according to B or T cell predominance.
Review • Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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CXCR4 mutation • MYD88 mutation + CXCR4 mutation
over1year
A Study of Ulocuplumab And Ibrutinib in Symptomatic Patients With Mutated CXCR4 Waldenstrom's Macroglobulinemia (clinicaltrials.gov)
P1, N=13, Terminated, Dana-Farber Cancer Institute | Phase classification: P1/2 --> P1 | Active, not recruiting --> Terminated; Sponsor decision to end follow-up early
Phase classification • Trial termination
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • CA6 (Carbonic Anhydrase 6)
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CXCR4 mutation • MYD88 mutation + CXCR4 mutation
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Imbruvica (ibrutinib) • ulocuplumab (BMS-936564)
over1year
Efficacy and Safety Study of Mavorixafor in Participants With Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome (clinicaltrials.gov)
P3, N=31, Active, not recruiting, X4 Pharmaceuticals | Trial primary completion date: Oct 2022 --> Dec 2024
Trial primary completion date
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CXCR4 (Chemokine (C-X-C motif) receptor 4)
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CXCR4 mutation
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Xolremdi (mavorixafor)
over1year
Diagnosis and treatment understanding of Waldenström macroglobulinemia in China: a cross-sectional study (PubMed, Zhonghua Xue Ye Xue Za Zhi)
Regimens containing Bruton tyrosine kinase inhibitor (BTKi) were most widely recommended for both treatment-naïve and relapsed/refractory patients (94% for all patients, 95% for treatment-naïve patients, and 75% for relapsed/refractory patients), and most physicians recommended Ibrutinib (84% )...It systematically describes the issues that exist in WM diagnosis and treatment in China, such as a high rate of misdiagnosis, limited access to gene testing and new drugs, and poor patient adherence to treatment. Chinese doctors believe that improving doctors' and patients' understanding of WM is one of the most urgent issues that must be addressed right now.
Observational data • Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4)
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CXCR4 mutation • MYD88 mutation + CXCR4 mutation
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Imbruvica (ibrutinib)