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BIOMARKER:

TP53 deletion

i
Other names: TP53, Tumor Protein P53, Cellular Tumor Antigen P53, Phosphoprotein P53, Tumor Protein P53, Antigen NY-CO-13, Transformation-Related Protein 53, Mutant Tumor Protein 53, P53 Tumor Suppressor, Tumor Suppressor P53, Tumor Protein 53, BMFS5, TRP53, BCC7, LFS1
Entrez ID:
20d
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • CD8 (cluster of differentiation 8) • CCND1 (Cyclin D1) • AURKA (Aurora kinase A) • CD4 (CD4 Molecule) • AURKB (Aurora Kinase B)
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PD-L1 expression • TP53 deletion • MYC rearrangement • CD4 expression
1m
Lfng-expressing centroacinar cell is a unique cell-of-origin for p53 deficient pancreatic cancer. (PubMed, Oncogene)
Finally, high LFNG expression is associated with high grade and poor survival in human patients. Taken together, Lfng marks a centroacinar subpopulation that is uniquely susceptible to oncogenic transformation when p53 is lost, and Lfng functions as an oncogene in all three lineages of the exocrine pancreas.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NOTCH3 (Notch Receptor 3)
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TP53 mutation • KRAS mutation • TP53 deletion • KRAS deletion • KRAS mutation + TP53 mutation
2ms
Trp53 Deletion Promotes Exacerbated Colitis, Facilitates Lgr5+ Cancer Stem Cell Expansion, and Fuels Tumorigenesis in AOM/DSS-Induced Colorectal Cancer. (PubMed, Int J Mol Sci)
This study highlights how Trp53 deletion promotes the perfect storm of inflammation and stemness, driving colon cancer progression. Trp53 deletion dramatically shortened AOM/DSS latency and improved tumor induction efficiency, offering an excellent inflammation-driven CRC model.
Journal • Cancer stem
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TP53 (Tumor protein P53) • LGR5 (Leucine Rich Repeat Containing G Protein-Coupled Receptor 5)
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TP53 mutation • TP53 wild-type • TP53 deletion
2ms
Cyclin-D1 rearrangement as a secondary event in the large cell transformation of splenic marginal zone lymphoma with a TP53 deletion. (PubMed, Virchows Arch)
Sequencing of the two lymphomas demonstrated clonal relatedness of the two processes. To our knowledge, this is the first report of a splenic marginal zone lymphoma with a TP53 deletion at diagnosis, evolving into a large B-cell lymphoma with a CCND1 rearrangement.
Journal
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TP53 (Tumor protein P53) • CCND1 (Cyclin D1)
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TP53 deletion • CCND1 overexpression
2ms
Combined inhibition of CTPS1 and ATR is a metabolic vulnerability in p53-deficient myeloma cells. (PubMed, Hemasphere)
This combination induced replicative stress and caspase-mediated cell death and was highly effective in resistant/refractory patient samples with TP53 deletion and/or mutation and in TP53 -/- NCI-H929 xenografted NOD-scid IL2Rgamma mice. Our in vitro, ex vivo, and in vivo data provide the rationale for combined CTPS1 and ATR inhibition for the treatment of p53-deficient patients.
Journal
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MKI67 (Marker of proliferation Ki-67) • CTPS1 (CTP Synthase 1)
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TP53 mutation • TP53 deletion • TP53 R175H • TP53 expression
3ms
Tumor immunogenicity regulates host immune responses, and conventional dendritic cell type 2 uptakes the majority of tumor antigens in an orthotopic lung cancer model. (PubMed, Cancer Immunol Immunother)
The majority of ZsGreen conjugated with minOVA was observed in the conventional type 2 DCs (cDC2), whereas cDC1 has minimal. These data indicate that tumor immunogenicity regulates host immune responses, and tumor neoantigen is mostly recognized by cDC2 cells, which may play a critical role in initiating antitumor immune responses in an orthotopic murine lung cancer model.
Preclinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CD8 (cluster of differentiation 8) • CDK1 (Cyclin-dependent kinase 1) • ITGAX (Integrin Subunit Alpha X)
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TP53 mutation • KRAS mutation • TP53 deletion • KRAS deletion
3ms
Immunoglobulin D-Lambda Multiple Myeloma Initially Presenting in the Sphenoid Sinus, Orbital Apex, and Skull Base: A Systematic Review with a Case Report. (PubMed, J Neurol Surg Rep)
An endoscopic approach is popular for tissue biopsy. Bone marrow biopsy with a smear, serum or urine protein electrophoresis, and immunofixation electrophoresis are crucial upon the appearance of target organ damage.
Review • Journal
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
3ms
Targeted BET inhibition with OPN-51107 synergizes with venetoclax in chronic lymphocytic leukemia. (PubMed, Leuk Lymphoma)
Importantly, the combination of OPN-51107 and venetoclax exhibited synergistic cytotoxicity in ibrutinib-resistant CLL cells and patient-derived CLL samples regardless of R/R or deletion status. This study establishes the preclinical efficacy of using OPN-51107 and venetoclax in combination in therapy-resistant and/or high-risk CLL, lending support for its further development as a combination therapy.
Journal • IO biomarker
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TP53 (Tumor protein P53) • BRD4 (Bromodomain Containing 4)
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TP53 deletion
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Venclexta (venetoclax) • Imbruvica (ibrutinib)
3ms
17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas. (PubMed, Genes Chromosomes Cancer)
In conclusion, 17p13 deletions were most commonly seen in p53 negative cancers, supporting their role as a cause for the p53 null phenotype in urothelial cancer. The association of 17p13 deletions with high grade and advanced pT stage may reflect increasing genomic instability going along with stage and grade progression.
Journal
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TP53 (Tumor protein P53)
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TP53 deletion • TP53 expression
3ms
DEC10-VEN: Venetoclax and Decitabine in Treating Participants With Relapsed/Refractory Acute Myeloid Leukemia or Relapsed High-Risk Myelodysplastic Syndrome (clinicaltrials.gov)
P2, N=235, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025
Trial completion date • Trial primary completion date • Combination therapy
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
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Venclexta (venetoclax) • decitabine
3ms
A predictive risk-scoring model for survival prognosis of multiple myeloma based on gain/amplification of 1q21: Experience in a tertiary hospital in South-Western China. (PubMed, Cancer Med)
The UHR model, which integrates the presence of +1q21 with no-ASCT and TP53 deletion, is designed to identify the early relapse subgroup among patients with +1q21 in NDMM.
Journal
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TP53 (Tumor protein P53)
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TP53 deletion
7ms
A PHASE 2 STUDY OF MINIMAL RESIDUAL DISEASE (MRD)-ADAPTED, TIME-LIMITED ACALABRUTINIB AND OBINUTUZUMAB FOR THE INITIAL TREATMENT OF PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA (CLL): MRD OUTCOMES (EHA 2024)
Time limited AO was well tolerated and resulted in deep remissions allowing for time limited BTKi tx. 40% ofpts achieved U-MRD with 13C of tx, 86% of these patients maintained U-MRD 3 cycles post completion of tx. This study is fully accrued.
P2 data • Clinical • Minimal residual disease
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1)
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TP53 mutation • Chr del(11q) • TP53 deletion
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clonoSEQ
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Gazyva (obinutuzumab) • Calquence (acalabrutinib)
9ms
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation. (PubMed, Genes Chromosomes Cancer)
Nine tumors were tested with Nanocind CINSARC® signature and all were classified in low risk of recurrence. We propose, based on our observations, a diagnostic approach of these challenging lesions.
Journal
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TP53 (Tumor protein P53) • FH (Fumarate Hydratase)
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TP53 deletion • FH deletion
9ms
Haploinsufficiency of Adenomatous Polyposis Coli Coupled with Kirsten Rat Sarcoma Viral Oncogene Homologue Activation and P53 Loss Provokes High-Grade Glioblastoma Formation in Mice. (PubMed, Cancers (Basel))
Consequently, our GBM models have proven to be invaluable resources for identifying early disease biomarkers in glioblastoma, as they closely mimic the human disease. The insights gained from these models may pave the way for potential advancements in the diagnosis and treatment of this challenging brain tumor.
Preclinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • GFAP (Glial Fibrillary Acidic Protein)
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TP53 mutation • KRAS mutation • TP53 deletion • KRAS deletion
9ms
Albumin promoter-driven FlpO expression induces efficient genetic recombination in mouse liver. (PubMed, Am J Physiol Gastrointest Liver Physiol)
A highly efficient and liver-specific BAC-Alb-FlpO mouse model was developed. In combination with other Cre lines, different genes can be manipulated sequentially in the same cell, or distinct genetic changes can be induced in different cell types of the same organism.
Preclinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ALB (Albumin)
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TP53 mutation • KRAS mutation • KRAS G12D • TP53 deletion • KRAS G12 • KRAS deletion • KRAS expression
10ms
The frequency and clinical outcome of mono-hit and multi-hit TP53 aberrations in newly diagnosed multiple myeloma. (PubMed, Pathology)
TP53mut retained its significance even in the presence of any Revised International Staging System (HR 2.1; 95% CI 1.1-3.8; p=0.015) for OS. The detection of additional cases with TP53 aberrations, as well as poor survival associated with the presence of mutation alone, supports TP53mut testing in NDMM at least in patients without TP53del and other high-risk cytogenetic abnormalities.
Clinical data • Journal
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 wild-type • TP53 deletion
10ms
Paraptotic Cell Death as an Unprecedented Mode of Action Observed for New Bipyridine-Silver(I) Compounds Bearing Phosphane Coligands. (PubMed, J Med Chem)
Noteworthily, neither carboplatin and oxaliplatin resistance nor p53 deletion impacted on their anticancer efficacy. In contrast, dppe silver drugs induced paraptosis, a novel recently described form of programmed cell death. Together with the good tumor specificity of this compound's class, this work suggests that dppe-containing silver complexes could be interesting drug candidates for the treatment of resistant ovarian cancer.
Journal
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TP53 (Tumor protein P53)
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TP53 deletion
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carboplatin • oxaliplatin
10ms
Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations. (PubMed, Cancers (Basel))
Higher CHK2 expression was associated with poorer treatment responses and disease outcomes. Higher CHK2 expression and positive p53 together with a TP53 deletion could be a prognostic marker of unfavorable disease outcomes in patients with germline truncating mutations in CHEK2.
Journal
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TP53 (Tumor protein P53) • CHEK2 (Checkpoint kinase 2)
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TP53 mutation • TP53 deletion • CHEK2 mutation • TP53 expression
10ms
The Incidence of FISH Abnormalities in Patients with Post-Transplant Lymphomas (PT-NHLs) (USCAP 2024)
FISH analysis of FFPE PT-NHLs detects genetic abnormalities, even in small specimens, in approximately 60% of cases. While BCL2 and BCL6 abnormalities are infrequent, MYC and 11q abnormalities were seen in 1/3 of tested cases. Interestingly, the classic 11q aberration was seen only in GC-DLBCLs (all patients alive), while extra copies were seen in non-GC cases (all patients with follow-up have died), including 2 EBV positive, suggesting different pathogenetic pathways with unique biologic behavior.
Clinical • IO biomarker • Post-transplantation
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • BCL6 (B-cell CLL/lymphoma 6) • IRF4 (Interferon regulatory factor 4) • MME (Membrane Metalloendopeptidase)
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TP53 deletion • MYC rearrangement
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ZytoLight® SPEC 11q gain/loss Triple Color Probe
10ms
Strong p53 Expression Over 30% Associates with TP53 Mutations in Transformed DLBCL and DLBCL-NOS (USCAP 2024)
Strong p53 by IHC in more than 30% of neoplastic cells is a useful tool to screen TP53 mutations. In our series, aLBCL did not have significant concurrent alterations between p53 and MYC pathways.
TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion • MYC rearrangement • TP53 expression
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P53 (TP53) Deletion FISH Probe Kit
10ms
Enrollment open
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3)
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TP53 mutation • FLT3-ITD mutation • FLT3 mutation • TP53 deletion
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Venclexta (venetoclax) • Vanflyta (quizartinib) • decitabine
11ms
Human Fallopian Tube-Derived Organoids with TP53 and RAD51D Mutations Recapitulate an Early Stage High-Grade Serous Ovarian Cancer Phenotype In Vitro. (PubMed, Int J Mol Sci)
TP53 and RAD51D co-deleted organoids exhibited heightened sensitivity to platinum, poly-ADP ribose polymerase inhibitors (PARPi), and cell cycle-related medication. In summary, our research highlighted the use of FTE organoids with RAD51D mutations as an invaluable in vitro platform for the early detection of carcinogenesis, mechanistic exploration, and drug screening.
Preclinical • Journal • PARP Biomarker
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TP53 (Tumor protein P53) • RAD51D (RAD51 paralog D) • IL17A (Interleukin 17A)
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TP53 mutation • TP53 deletion • RAD51D mutation • RAD51 mutation
11ms
1q21+ is associated with poor prognosis in newly diagnosed multiple myeloma patients with extramedullary disease: a retrospective study. (PubMed, Ann Hematol)
Multivariate analysis suggested that 1q21+ , EMD-S, elevated lactate dehydrogenase (LDH) levels, and P53 deletion were independent risk factors for poor prognosis in patients with EMD. In patients with 1q21+ EMD, hypercalcemia, elevated LDH levels, and P53 deletion were independent adverse risk prognostic factors.
Retrospective data • Journal
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TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • B2M (Beta-2-microglobulin)
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LDH elevation • TP53 deletion
11ms
Genetically-engineered mouse models of small cell lung cancer: the next generation. (PubMed, Oncogene)
Notably, the development of allograft models and precancerous precursor models from SCLC GEMMs provides complementary approaches to GEMMs to study tumor cell-immune microenvironment interactions and test new therapeutic strategies to enhance response to immunotherapy. Ultimately, the new generation of SCLC models can accelerate research and help develop new therapeutic strategies for SCLC.
Preclinical • Review • Journal • IO biomarker
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)
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TP53 deletion • RB1 deletion
12ms
DEC10-VEN: Venetoclax and Decitabine in Treating Participants With Relapsed/Refractory Acute Myeloid Leukemia or Relapsed High-Risk Myelodysplastic Syndrome (clinicaltrials.gov)
P2, N=235, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | N=440 --> 235
Enrollment closed • Enrollment change • Combination therapy
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
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Venclexta (venetoclax) • decitabine
1year
Interleukin-30 subverts prostate cancer-endothelium crosstalk by fostering angiogenesis and activating immunoregulatory and oncogenic signaling pathways. (PubMed, J Exp Clin Cancer Res)
IL30 regulates the crosstalk between PC and EC and reshapes their transcriptional profiles, triggering angiogenic, immunoregulatory and oncogenic gene expression programs. These findings highlight the angiostatic and oncostatic efficacy of targeting IL30 to fight PC.
Journal • PD(L)-1 Biomarker • IO biomarker
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BCL2 (B-cell CLL/lymphoma 2) • PD-1 (Programmed cell death 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • CXCL10 (Chemokine (C-X-C motif) ligand 10) • STAT3 (Signal Transducer And Activator Of Transcription 3) • IDO1 (Indoleamine 2,3-dioxygenase 1) • FASLG (Fas ligand) • IGF1 (Insulin-like growth factor 1) • IL10 (Interleukin 10) • CCR7 (Chemokine (C-C motif) receptor 7) • CCND2 (Cyclin D2) • IL17A (Interleukin 17A) • STAT6 (Signal transducer and activator of transcription 6) • CCR2 (C-C Motif Chemokine Receptor 2) • CXCR5 (C-X-C Motif Chemokine Receptor 5) • IL13 (Interleukin 13) • LGALS4 (Galectin 4) • NOS2 (Nitric Oxide Synthase 2) • TNFSF10 (TNF Superfamily Member 10) • HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1) • JUN (Jun proto-oncogene) • KLK3 (Kallikrein-related peptidase 3) • PTGS1 (Prostaglandin-Endoperoxide Synthase 1)
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TP53 deletion
1year
Cytogenetics in the management of myelodysplastic neoplasms (myelodysplastic syndromes, MDS): Guidelines from the groupe francophone de cytogénétique hématologique (GFCH). (PubMed, Curr Res Transl Med)
A karyotype on bone marrow remains mandatory at diagnosis of MDS with complementary molecular analyses now required. Analyses with FISH or other technologies providing similar information can be necessary to complete and help in case of karyotype failure, for doubtful CA, for clonality assessment, and for detection of TP53 deletion to assess TP53 biallelic alterations.
Clinical guideline
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TP53 (Tumor protein P53)
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TP53 deletion • Chr del(5q) • Chr del(7q)
1year
Inhibition of PRL2 upregulates PTEN and attenuates tumor growth in Tp53-deficient sarcoma and lymphoma mouse models. (PubMed, Cancer Res Commun)
Additionally, inhibition of PRL2 with a small molecule inhibitor phenocopies the effect of genetic deletion of Prl2 and reduces Tp53 deficiency-induced tumor growth. Taken together, the results further establish PRL2 as a negative regulator of PTEN and highlight the potential of PRL2 inhibition for PTEN augmentation therapy in cancers with wild-type PTEN expression.
Preclinical • Journal
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TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog)
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TP53 mutation • TP53 deletion • PTEN expression
1year
p53R245W mutation fuels cancer initiation and metastases in NASH-driven liver tumorigenesis. (PubMed, Cancer Res Commun)
p53R245W GOF properties increased carcinoma initiation, fueled mixed hepatocholangial carcinoma incidence, and tripled metastatic disease. Collectively, our in vivo studies indicate that p53R245W has stronger tumor promoting activities than Trp53 loss in the context of NASH.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53)
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TP53 mutation • TP53 wild-type • TP53 deletion
1year
Static and Dynamic Assessment to Identify Ultra-High Risk Multiple Myeloma: Analysis for Patients with Overall Survival No More Than Three Years (ASH 2023)
With static and dynamic assessment, we can identify a group of UHR-MM with survival no more than 3 years as early as possible. For these patients, we need more potent therapy model to improve their survival.
Clinical
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
1year
Correlation of Flow Cytometric BCL2 and MCL1 Expression with Cytogenetic Characteristics and Outcome in Multiple Myeloma (ASH 2023)
Our study demonstrates an objective assessment of BCL2 and MCL1 expression by FCM. BCL2 PC/T,MCL1 PC/T and BCL2 PC /MCL1 PC were significantly higher in myeloma cells compared to non-clonal PCs. Low MCL1 expression or high BCL2/MCL1 ratio was associated with IGH: : CCND1; while strong MCL1 and low BCL2/MCL1 ratio was most frequent in 1q21 amplification.
IO biomarker
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TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • FGFR3 (Fibroblast growth factor receptor 3) • CCND1 (Cyclin D1) • MCL1 (Myeloid cell leukemia 1) • BCL2L1 (BCL2-like 1) • BCL2L2 (BCL2 Like 2) • BCL2L10 (BCL2 like 10) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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TP53 deletion • BCL2 expression • BCL2 positive • MCL1 expression
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Venclexta (venetoclax)
1year
1q21+ Is Associated with Poor Prognosis in Newly Diagnosed Multiple Myeloma Patients with Extramedullary Disease: A Retrospective Study (ASH 2023)
Taken together, our findings emphasized that 1q21+ increased the possibility of disease progression and predicted poor survival in EMD patients. 1q21+ EMD tends to be associated with other high risk disease factors. ASCT may not overcome the adverse effect of 1q21+ in EMD patients.
Retrospective data
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TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • B2M (Beta-2-microglobulin)
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LDH elevation • TP53 deletion
1year
Promising Safety and Efficacy of Trovocabtagene Autoleucel (C-CAR088) Followed ASCT in Ultra High-Risk Multiple Myeloma (UHR-MM) Patients Who Failed or Had Suboptimal Response to Standard First Line Triplet Based Therapy (ASH 2023)
Patients undergo conditioning (melphalan alone or plus fludarabine) followed by ASCT on Day 0 and trovo-cel 3...5%) had received daratumumab, with six having been treated with dara-based quadruplet or quintuplet therapy as a front setting...6%) received tocilizumab and glucocorticoid for CRS... The preliminary results of this clinical trial show a promising safety and efficacy profile of trovo-cel followed ASCT in UHR-MM patients. Although the follow-up time is relatively limited, we are looking forward to a consistently good safety and efficacy outcome in long-term follow-up and in more patients recruited later.
Clinical • IO biomarker
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
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Darzalex (daratumumab) • melphalan • fludarabine IV • Actemra IV (tocilizumab)
1year
Pulmonary Infection Associated with Immune Dysfunction Predicting Dismal Prognosis in Patients with Myelodysplastic Syndrome Accompanied By TP53 Gene Abnormalities (ASH 2023)
29 patients received azacitidine-based treatment and 42 patients received decitabine-based treatment, the median OS were 5. TP53 gene abnormalities in patients with MDS are frequently accompanied by complex karyotypes and abnormalities in chromosomes 5, 7, 8, and 20. Currently, the prognosis of MDS patients with TP53 gene abnormalities remains poor, and treatment regimens based on demethylating agents have limited efficacy in this population. In combination with venetoclax or Allo-HSCT also can not improve survival.
Clinical
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TP53 (Tumor protein P53) • CD8 (cluster of differentiation 8) • CD4 (CD4 Molecule)
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TP53 mutation • TP53 deletion • CD8 positive • CD4 positive
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Venclexta (venetoclax) • azacitidine • decitabine
1year
Phase II, Single-Center, Prospective Study of Intrathecal Thiotepa for the Prophylaxis of Secondary Central Nervous System Involvement in Highly Aggressive B-Cell Lymphoma (ASH 2023)
Evidence supporting the use of intravenous methotrexate (MTX) or arabinoside (AraC) in high-risk patients is growing, however, the use of other agents remains to be defined...All patients are need to receive IT thiotepa 10 mg and dexamethasone 5 mg on day 1 of each cycle of chemotherapy for at least 4 cycles...6%) patients received rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone (RCHOP), 5 (18...1%) patients received BTK inhibitor, lenalidomide with rituximab (ZR2) followed by RCHOP, and 4 (14...ConclusionProphylactic intrathecal thiotepa is an effective and side-effects manageable measure for preventing secondary central nervous system involvement in high-risk DLBCL. Longer follow-up and larger-scale prospective trial is needed to testify this measure.
Clinical • P2 data • IO biomarker
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • BCL6 (B-cell CLL/lymphoma 6)
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TP53 deletion
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Rituxan (rituximab) • lenalidomide • doxorubicin hydrochloride • cyclophosphamide • vincristine • prednisone • dexamethasone • thiotepa • methotrexate IV
1year
Optical Genome Mapping Provides New Molecular Insights in High-Risk Mantle Cell Lymphoma: A Lysa Study (ASH 2023)
Two patients had deletion of SMARCA4 at diagnosis, that confers resistance to the BCL-2 inhibitor venetoclax (Agarwal et al...Mutations in the NF-κB alternative pathway, responsible for resistance to ibrutinib, are found in both LR and HR patients. ConclusionIn this small cohort of MCL patients included in a trial, complex structural alterations were identified by OGM at the time of diagnosis. OGM is a very promising technology that demonstrated its potential in the cytogenetic prognostic staging of MCL.
IO biomarker
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TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
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TP53 deletion • CDKN2A deletion • MTAP deletion • SMARCA4 deletion
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Venclexta (venetoclax) • Imbruvica (ibrutinib)
1year
Cytogenetics in the management of multiple Myeloma: The guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). (PubMed, Curr Res Transl Med)
The GFCH present here the overview of genomics alterations identified in MM and related PCs diseases associated with their prognostic factor, when available, and recommendations from an expert group for identification and characterization of those alterations. This work is the update of previous 2016 recommendations.
Journal
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TP53 (Tumor protein P53) • SDC1 (Syndecan 1)
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Chr t(11;14) • TP53 deletion • Chr t(4;14)
1year
Cholesterol esterification and p53-mediated tumor suppression. (PubMed, Explor Target Antitumor Ther)
The recent study has shown that the loss of p53 leads to excessive cholesterol ester biosynthesis, which promotes hepatocellular carcinoma in mice. Blocking cholesterol esterification improves treatment outcomes, particularly for liver cancers with p53 deletions/mutations that originate in a background of non-alcoholic fatty liver disease.
Journal
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TP53 (Tumor protein P53)
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TP53 mutation • TP53 deletion
1year
Characteristic Mutational Damages in Gastric and Colorectal Adenocarcinomas. (PubMed, Asian Pac J Cancer Prev)
By identifying specific gene mutations and differences in genetic markers, the study provided insights for the development of targeted diagnostic methods and personalised treatment strategies, ultimately improving the clinical outcomes in the field of oncology.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)
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TP53 mutation • KRAS mutation • NRAS mutation • TP53 deletion • HRAS mutation