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BIOMARKER:

BIRC3 mutation

i
Entrez ID:
Related biomarkers:
2ms
Novel Plasma Cell-Free RNA-Based Liquid Biopsy Approach for CLL (ASH 2024)
Conclusions The presented liquid biopsy-based approach demonstrates the feasibility of identifying malignant cell fraction, BCR repertoires, clinically significant mutations, and immune and tissue specific processes from cfRNA. This study also suggests that the cfRNA platform may support longitudinal monitoring of CLL progression and relapse, as well the development of MRD tests with future validation.
Liquid biopsy • Biopsy
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • BIRC3 (Baculoviral IAP repeat containing 3)
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TP53 mutation • ATM mutation • SF3B1 mutation • BIRC3 mutation
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BostonGene Tumor Portrait™ Test
11ms
Journal
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BIRC3 (Baculoviral IAP repeat containing 3)
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BIRC3 mutation
1year
DNA Methylation-Based Classification of Hairy Cell Leukemia and Splenic B Cell Lymphoma (ASH 2023)
In summary, we have developed a DNA methylation-based classifier that resolves 4 SBLPN subgroups with distinct molecular features, and reclassifies a subset of SMZL and HCL patients, adding further information to the updated WHO/ICC entities. We reveal distinct biological pathways operating in M-SBLPN subgroups that may aid targeted therapy approaches.
Epigenetic controller
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • TERT (Telomerase Reverse Transcriptase) • IGH (Immunoglobulin Heavy Locus) • NOTCH2 (Notch 2) • CREBBP (CREB binding protein) • BIRC3 (Baculoviral IAP repeat containing 3) • IL2RA (Interleukin 2 receptor, alpha) • SYK (Spleen tyrosine kinase) • IGLL5 (Immunoglobulin Lambda Like Polypeptide 5)
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TP53 mutation • BRAF V600E • BRAF V600 • BIRC3 mutation • TERT mutation • NOTCH2 mutation • TERT promoter mutation • SYK mutation • TERT 124C>T
2years
Potential Drivers of Acquired Resistance to Idelalisib in CLL Patients (ASH 2022)
We checked the phosphorylation/activation level of AKT and ERK1/2 at the responding and progression time points in the three original CLL patients with acquired resistance and observed that pERK levels are inhibited by idelalisib at baseline, but not at progression, in 2 patients (patient 1 and 2). In conclusion, we have identified potential drivers of acquired resistance to idelalisib in CLL patients, including MAPK pathway activation as in our prior study, and we continue with ongoing work evaluating the potential role of PI3K pathway mutations, BIRC3, AICDA and LTK in treatment resistance, since insights from these studies will help us guide therapy for CLL patients with refractory disease.
Clinical • Preclinical • BRCA Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA2 (Breast cancer 2, early onset) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • CD79B (CD79b Molecule) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • BIRC3 (Baculoviral IAP repeat containing 3) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma) • IKZF3 (IKAROS Family Zinc Finger 3) • LTK (Leukocyte Receptor Tyrosine Kinase) • NFATC1 (Nuclear Factor Of Activated T Cells 1) • PDIA3 (Protein Disulfide Isomerase Family A Member 3) • DDX3X (DEAD-Box Helicase 3 X-Linked) • NFATC3 (Nuclear Factor Of Activated T Cells 3)
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TP53 mutation • KRAS mutation • NRAS mutation • PIK3CA mutation • ATM mutation • RAS mutation • SF3B1 mutation • BIRC3 mutation • PIK3R1 mutation
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Zydelig (idelalisib)
2years
Enrollment open
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TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • FAT1 (FAT atypical cadherin 1) • POT1 (Protection of telomeres 1) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
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CD20 positive • Chr t(11;14) • KMT2D mutation • BIRC3 mutation • CCND1 overexpression • SMARCA4 mutation • Chr t(11;14)(q13;q32) • MYC positive
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Rituxan (rituximab) • cyclophosphamide • Calquence (acalabrutinib) • fludarabine IV • Tecartus (brexucabtagene autoleucel)
2years
Integrating Multi-Omics to Reveal the Clonal Evolutionary Characteristics in CLL Patients with Zanubrutinib Resistance (ASH 2022)
Introduction The drug-resistant mechanisms of the first-generation Bruton's tyrosine kinase (BTK) inhibitor, ibrutinib, has been extensively explored in chronic lymphocytic leukemia (CLL) patients. Integrated multi-omics were performed in our zanubrutinib-resistant CLL patients cohort. Due to spatial heterogeneity and clonal evolution among patients, deep targeted-gene NGS and ddPCR should be used complementarily to evaluate the emergence of resistant clones. BTK Cys481 and Leu528 were two main BTK resistant mutations in zanubrutinib resistant CLL patients.
Clinical • IO biomarker
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TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • MCL1 (Myeloid cell leukemia 1) • BIRC3 (Baculoviral IAP repeat containing 3) • PAX5 (Paired Box 5) • PLCG2 (Phospholipase C Gamma 2) • IRF8 (Interferon Regulatory Factor 8) • FOXP1 (Forkhead Box P1) • KLF8 (Kruppel Like Factor 8) • ATF3 (Activating Transcription Factor 3) • IRF5 (Interferon Regulatory Factor 5)
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TP53 mutation • BCL2 overexpression • SF3B1 mutation • BCL2 expression • BIRC3 mutation • MCL1 expression • PLCG2 mutation • BTK mutation
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Venclexta (venetoclax) • Imbruvica (ibrutinib) • Brukinsa (zanubrutinib)
2years
Molecular Landscape of Chronic Lymphocytic Leukemia Using Targeted Gene Panel Sequencing (ASH 2022)
FBXW7 and NOTCH1 pathogenic variants have the same biological consequences in CLL, therefore presence of FBXW7 mutations may have clinical relevance regarding anti-CD20 therapy. Taken together, these NGS results complemented with the study of IGHV mutational status and cytogenetic data can contribute to better prognostic workup and management of our CLL patients.
IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • BCL2 (B-cell CLL/lymphoma 2) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • IGH (Immunoglobulin Heavy Locus) • CD79B (CD79b Molecule) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • BIRC3 (Baculoviral IAP repeat containing 3) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CARD11 (Caspase Recruitment Domain Family Member 11) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • PLCG2 (Phospholipase C Gamma 2) • MAPK1 (Mitogen-activated protein kinase 1) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • TCF3 (Transcription Factor 3) • POT1 (Protection of telomeres 1) • DDX3X (DEAD-Box Helicase 3 X-Linked)
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TP53 mutation • PIK3CA mutation • NOTCH1 mutation • Chr del(11q) • SF3B1 mutation • IGH mutation • BIRC3 mutation • FBXW7 mutation • TS 12
2years
Molecular determinants of outcomes in relapsed or refractory mantle cell lymphoma treated with ibrutinib or temsirolimus in the MCL3001 (RAY) trial. (PubMed, Leukemia)
Restricted to patients with deletions/alterations in TP53, ibrutinib appeared to abrogate the deleterious impact on outcome. These data illustrate the potential to perform a molecular analysis of predictive biomarkers on routine patient samples that can meaningfully inform clinical practice.
Journal
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CCND1 (Cyclin D1) • BIRC3 (Baculoviral IAP repeat containing 3)
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MYC expression • BIRC3 mutation
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Imbruvica (ibrutinib) • Torisel (temsirolimus)
over2years
Enrollment change
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TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • FAT1 (FAT atypical cadherin 1) • POT1 (Protection of telomeres 1) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
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CD20 positive • Chr t(11;14) • KMT2D mutation • BIRC3 mutation • CCND1 overexpression • SMARCA4 mutation • Chr t(11;14)(q13;q32) • MYC positive
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Rituxan (rituximab) • cyclophosphamide • Calquence (acalabrutinib) • fludarabine IV • Tecartus (brexucabtagene autoleucel)
over2years
The correlation of CD49d expression pattern with molecular genetics and hotspot gene mutants in patients with chronic lymphocytic leukemia (PubMed, Zhonghua Xue Ye Xue Za Zhi)
There were significant correlations between CD49d and 11q22-, +12 and BIRC3 gene mutation. Patients with bimodal CD49d were more correlated with poor prognosis indexes.
Journal
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BIRC3 (Baculoviral IAP repeat containing 3) • ITGA4 (Integrin, alpha 4)
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BIRC3 mutation • ITGA4 negative
over2years
New P1 trial
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TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • FAT1 (FAT atypical cadherin 1) • POT1 (Protection of telomeres 1) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
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CD20 positive • Chr t(11;14) • KMT2D mutation • BIRC3 mutation • CCND1 overexpression • SMARCA4 mutation • Chr t(11;14)(q13;q32) • MYC positive
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Rituxan (rituximab) • cyclophosphamide • Calquence (acalabrutinib) • fludarabine IV • Tecartus (brexucabtagene autoleucel)
over2years
VENETOCLAX IN PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA WITH 17P DELETION: 6-YEAR FOLLOW-UP AND GENOMIC ANALYSES IN A PIVOTAL PHASE 2 TRIAL (EHA 2022)
Of pts with PD (n=98) or whose disease was refractory to Ven (n=11), 73 received another LOT, most commonly ibrutinib (n=41); mOS from ibrutinib initiation was 28.0 mo. Conclusion At end of study (median f/u, 70 mo), 48% of pts were alive, 24% were progression-free, and 16% remained on Ven, confirming the long-term activity of Ven in this high-risk population with del(17p) CLL and median 2 prior LOT. Except SF3B1 mutation, other adverse features (eg, >1 TP53 mutation, NOTCH1 mutations, unmutated IGHV) did not influence outcomes with Ven treatment in this cohort.
P2 data • Clinical • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus) • BIRC3 (Baculoviral IAP repeat containing 3)
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TP53 mutation • ATM mutation • NOTCH1 mutation • SF3B1 mutation • TP53 mutation + Chr del(17p) • BIRC3 mutation
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clonoSEQ
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Venclexta (venetoclax) • Imbruvica (ibrutinib)
almost3years
Venetoclax and Eprenetapopt for the Treatment of Relapsed of Refractory Mantle Cell Lymphoma (clinicaltrials.gov)
P2, N=0, Withdrawn, M.D. Anderson Cancer Center | N=20 --> 0 | Not yet recruiting --> Withdrawn
Enrollment change • Trial withdrawal
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CCND1 (Cyclin D1) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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TP53 mutation • Chr del(17p) • TP53 wild-type • TP53 deletion • BIRC3 mutation • CCND1 overexpression • CCND1 mutation
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Venclexta (venetoclax) • eprenetapopt (APR-246)
3years
Detection Rate of Integrated Molecular and Cytogenetic Biomarker Testing for Chronic Lymphocytic Leukemia (ASH 2021)
Among the FISH-negative cases, 17% were classified as high-risk or intermediate-risk based on the molecular findings. Together, these findings support the clinical value of an integrative biomarker testing approach that includes both molecular and cytogenetic biomarkers to stratify CLL patients into risk subgroups to help guide decisions on clinical management.
Biomarker testing
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • CCND1 (Cyclin D1) • BIRC3 (Baculoviral IAP repeat containing 3)
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SF3B1 mutation • BIRC3 mutation • TS 12
3years
Different Prognostic Impact of Recurrent Gene Mutations in IGHV-Mutated and IGHV-Unmutated Chronic Lymphocytic Leukemia: A Retrospective, Multi-Center Cohort Study By Eric, the European Research Initiative on CLL, in Harmony (ASH 2021)
Importantly, mutations within several genes (i.e. SF3B1, NOTCH1, XPO1 and NFKBIE ) identified patients in the M-CLL subgroup with a high-risk profile; conversely, TP53 mutations did not affect TTFT in this subgroup. On these grounds, we suggest to include analysis of recurrent gene mutations to identify high-risk patients within the M-CLL subgroup.
Retrospective data • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus) • BIRC3 (Baculoviral IAP repeat containing 3) • POT1 (Protection of telomeres 1) • NFKBIE (NFKB Inhibitor Epsilon)
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TP53 mutation • Chr del(11q) • SF3B1 mutation • IGH mutation • BIRC3 mutation • TS 12
over3years
Clinical • New P2 trial
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CCND1 (Cyclin D1) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3)
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TP53 mutation • Chr del(17p) • TP53 deletion • BIRC3 mutation • CCND1 overexpression • CCND1 mutation
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Venclexta (venetoclax) • eprenetapopt (APR-246)
over3years
Biological significance of monoallelic and biallelic BIRC3 loss in del(11q) chronic lymphocytic leukemia progression. (PubMed, Blood Cancer J)
Moreover, we demonstrate ex vivo in primary cells that del(11q) cases including BIRC3 within their deleted region show evidence of non-canonical NF-κB activation which correlates with high BCL2 levels and enhanced sensitivity to venetoclax. Furthermore, our results show that BIRC3 mutations in del(11q) cells promote clonal advantage in vitro and accelerate leukemic progression in an in vivo xenograft model. Altogether, this work highlights the biological bases underlying disease progression of del(11q) CLL patients harboring BIRC3 deletion and mutation.
Journal • IO biomarker
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BCL2 (B-cell CLL/lymphoma 2) • BIRC3 (Baculoviral IAP repeat containing 3)
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Chr del(11q) • BIRC3 mutation • BIRC3 deletion
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Venclexta (venetoclax)
over3years
[VIRTUAL] MULTIREGIONAL SEQUENCING AND CIRCULATING TUMOR DNA ANALYSIS PROVIDE COMPLEMENTARY APPROACHES FOR COMPREHENSIVE DISEASE PROFILING OF SMALL LYMPHOCYTIC LYMPHOMA (EHA 2021)
Conclusion These results suggest that the multiregional sequencing of the different anatomical compartments of SLL is essential to gain a comprehensive view of the disease mutational landscape.  Consistently, mutational analysis of the SLL lymph node biopsy should be coupled to analysis of the circulating PB CD19+ cell compartment, and eventually with ctDNA analysis. This observation may have clinical relevance when treatment tailoring is based on specific gene mutations used as molecular predictors that might be present in only one specific anatomical compartment of the disease.
Circulating tumor DNA
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NOTCH1 (Notch 1) • CD19 (CD19 Molecule) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BIRC3 (Baculoviral IAP repeat containing 3) • CD5 (CD5 Molecule)
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ASXL1 mutation • BIRC3 mutation
over3years
[VIRTUAL] CLINICAL IMPACT OF RECURRENT GENE MUTATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA: A RETROSPECTIVE, MULTI-CENTER COHORT STUDY BY ERIC, THE EUROPEAN RESEARCH INITIATIVE ON CLL, IN HARMONY (EHA 2021)
Conclusion Based on these results, we conclude that SF3B1, EGR2, XPO1 and BIRC3 mutations independently predicted short TTFT and should be considered for extended molecular testing in CLL. However, considering the different impact of gene mutations in M-CLL and U-CLL, the IGHV mutation status must be taken into account when constructing future prognostic models including recurrent gene mutations.
Retrospective data • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus) • BIRC3 (Baculoviral IAP repeat containing 3) • XPO1 (Exportin 1) • POT1 (Protection of telomeres 1) • NFKBIE (NFKB Inhibitor Epsilon)
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TP53 mutation • Chr del(11q) • SF3B1 mutation • IGH mutation • BIRC3 mutation • POT1 mutation • TS 12 • XPO1 mutation
almost4years
Therapeutic Options for Patients with TP53 Deficient Chronic Lymphocytic Leukemia: Narrative Review. (PubMed, Cancer Manag Res)
Treatment of patients with CLL harbouring TP53-deficiency requires drugs that promote cell death independently of TP53. Novel and smarter therapies revolutionize the treatment of del(17p) and/or aberrant TP53 CLL, but development of alternative therapeutic approaches still remains an issue of critical importance.
Clinical • Review • Journal • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • BIRC3 (Baculoviral IAP repeat containing 3)
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TP53 mutation • BIRC3 mutation • TP53 expression
4years
[VIRTUAL] Biological Impact of Monoallelic and Biallelic BIRC3 Loss in Del(11q) Chronic Lymphocytic Leukemia Progression (ASH 2020)
Taken together, our results suggest that del(11q) CLL patients harboring BIRC3 mutations should be considered as a CLL subgroup at a high risk of progression that might benefit from venetoclax-based therapies. Funding: PI18/01500
IO biomarker
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BCL2L1 (BCL2-like 1) • BIRC3 (Baculoviral IAP repeat containing 3) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
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Chr del(11q) • BCL2 overexpression • BIRC3 mutation • BIRC3 deletion
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Venclexta (venetoclax)
4years
[VIRTUAL] Outcomes of First-Line Ibrutinib in Patients with Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) and High-Risk Genomic Features with up to 6.5 Years Follow-up: Integrated Analysis of Two Phase 3 Studies (RESONATE-2 and iLLUMINATE) (ASH 2020)
Methods In RESONATE-2 (NCT01722487), pts aged ≥65 years without del(17p) were randomized to single-agent ibr or chlorambucil (clb). Conclusions This integrated analysis of pts undergoing first-line ibr-based treatment, with up to 79 mo follow up, demonstrated similar PFS and ORR for ibr-treated pts with or without high-risk genomic features, and confirmed significant PFS and ORR benefits with ibr-based therapy versus clb (± obinutuzumab). This analysis across two phase 3 studies demonstrated the efficacy of first-line ibr-based treatment irrespective of cytogenetic and mutational risk features, including those with unmutated IGHV, NOTCH1 mutation, and those with the highest risk classification of del(17p)/TP53 mutation/BIRC3 mutation.
Clinical • P3 data • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • BIRC3 (Baculoviral IAP repeat containing 3)
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TP53 mutation • NOTCH1 mutation • Chr del(11q) • SF3B1 mutation • TP53 mutation + Chr del(17p) • BIRC3 mutation
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Imbruvica (ibrutinib) • Gazyva (obinutuzumab) • Leukeran (chlorambucil)