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BIOMARKER:

Chr del(13)(q14)

8ms
Genomic imbalances analysis provides new insight into prognostic factors in adult and pediatric T-ALL. (PubMed, Blood)
Genomic complexity, del(16)(p13)/CREBBP and gain at 6q27 involving MLLT4 maintained their significance in multivariate analysis for survival outcome. Our study thus demonstrated that whole genome analysis of imbalances provides new insights to refine risk stratification in T-ALL.
Journal
|
CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CREBBP (CREB binding protein) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • AFDN (Afadin, Adherens Junction Formation Factor) • CASP8AP2 (Caspase 8 Associated Protein 2) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit) • RPL22 (Ribosomal Protein L22)
|
Chr del(13)(q14)
11ms
Clinicopathological and genetic landscape of plasmablastic lymphoma in Taiwan. (PubMed, Pathol Res Pract)
Deletion of chromosome 13q14 was frequent. The PBL cases in Taiwan showed recurrent mutations involving JAK-STAT, RAS-MAPK, epigenetic regulation, and NOTCH signaling pathways, findings similar to that from the West.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • FGFR3 (Fibroblast growth factor receptor 3) • CD20 (Membrane Spanning 4-Domains A1) • CCND1 (Cyclin D1) • BCL6 (B-cell CLL/lymphoma 6) • STAT3 (Signal Transducer And Activator Of Transcription 3) • SDC1 (Syndecan 1) • CD79A (CD79a Molecule) • IRF4 (Interferon regulatory factor 4)
|
KRAS mutation • NRAS mutation • MYC expression • MYC rearrangement • FGFR3 fusion • STAT3 mutation • Chr del(13)(q14)
12ms
Whole-Genome Sequencing for Copy Number Abnormalities in Multiple Myeloma Supersedes Karyotype Analysis and Fluorescent in Situ Hybridization (ASH 2023)
ConclusionsLeukoPrint is an automated, convenient and cost-effective approach to depict CNA profile in genomic DNA or cfDNA. This method is superior to conventional approaches when used for CNA testing, and the practice of this method could improve prognostic stratification of MM patients.
Whole genome sequencing
|
SDC1 (Syndecan 1)
|
Chr del(13)(q14) • Chr del(1p)
|
LeukoPrint®
12ms
Bone Marrow Plasma Cell Infiltration Is a Prognostic Factor for Response to AL Amyloidosis Therapy (ASH 2023)
In a low risk population defined by <10% BMPC, patients treated with HD melphalan did not show a statistical PFS difference when compared to patients treated without ASCT.
CD38 (CD38 Molecule)
|
Chr del(13)(q14)
|
melphalan
1year
Cytogenomic features of Richter transformation. (PubMed, Mol Cytogenet)
Cytogenomic profile was concordant with the literature data, however the role of IGH rearrangement, 14q deletion and 5q35.2 gain need to be explored. We anticipate that further characterization of RT lesions will probably facilitate better understanding of the RT clonal evolution.
Journal
|
CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1)
|
CDKN2A deletion • MYC rearrangement • Chr del(13)(q14)
1year
Genomic and Transcriptomic Profiles of Blastoid and Pleomorphic Mantle Cell Lymphoma Are Distinct from Classic Histology Mantle Cell Lymphoma (ASH 2023)
P and B-MCL have the highest degree of aneuploidy and exhibit an immune cold tumor microenvironment. Further studies are ongoing to refine the molecular differences among B and P-MCL compared to C-MCL.
IO biomarker
|
TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • CCND1 (Cyclin D1) • BCL6 (B-cell CLL/lymphoma 6) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NOTCH2 (Notch 2) • CARD11 (Caspase Recruitment Domain Family Member 11) • MALT1 (MALT1 Paracaspase) • NFKBIE (NFKB Inhibitor Epsilon) • MIR15A (MicroRNA 15a)
|
TP53 mutation • ATM mutation • DNMT3A mutation • CDKN2A deletion • SMARCA4 mutation • CARD11 amplification • Chr del(13)(q14) • CCND1 mutation
1year
Chromothripsis and Genomic Complexity As Pejorative Prognostic Markers in Pediatric and Adult T-ALL (ASH 2023)
Our study demonstrated that the whole genome analysis of imbalances provides new insights to refine the risk stratification in T-ALL. Notably, genomic complexity (≥ 15 genomic imbalances) and chromothripis demonstrated an association with an inferior outcome in terms of EFS and CIR in pediatric and adult T-ALL.
Clinical
|
CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CREBBP (CREB binding protein) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • SH2B3 (SH2B Adaptor Protein 3) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • AFDN (Afadin, Adherens Junction Formation Factor) • CASP8AP2 (Caspase 8 Associated Protein 2) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit) • RPL22 (Ribosomal Protein L22)
|
Chr del(13)(q14) • Chr del(1p)
1year
11q Gain with t(11; 14) or Alone Were Associated with Poor Prognosis in Newly-Diagnosed Multiple Myeloma Patients By SNP-Array Analysis and FISH (ASH 2023)
It demonstrated a statistically significant coexisting with t (11; 14) (p<0.001), complex karyotypes (involves at least 6 chromosomes) (p<0.001), high plasma cell ratio in bone marrow (p=0.001) and poor response to VRD (bortezomib, lenalidomide, dexamethasone) treatment (p<0.001), but mutually exclusive with monosome 13, del(13q14), dup1q21 and t (4; 14). Gain of 11q13.3-q25 is a reproducible chromosomal copy number abnormality in NDMM characterized by coexisting with t (11; 14), complex karyotypes, higher plasma cell ratio in bone marrow and poor treatment response to VRD. t(11; 14) patients with 11q gain had a poorer PFS compared to patients with t(11; 14) only, mPFS was only 9 months for TIE patients. t(11; 14) with 11q gain NDMM patients needs to be considered as high risk and ASCT could improve patients' survival.
Clinical
|
CCND1 (Cyclin D1)
|
Chr del(13)(q14)
|
lenalidomide • bortezomib • dexamethasone
1year
Prediction of Time-to-First Treatment (TTFT) in Favorable-Risk Chronic Lymphocytic Leukemia (CLL) Patients Using a Novel Stratification through Transcriptome Risk Scoring (ASH 2023)
A transcriptome risk score utilizing novel SPECTRA variables identified a substantial subset of CLL patients with IGHV-mutated status and presence of del(13q) who have uncharacteristically short TTFT, but who would be classified as favorable risk under current best practice stratification. Future directions include validating our results with external patient cohorts from Mayo Clinic and investigating the genetic and transcriptomic profile of SPECTRA low- and high-risk cohorts to determine targetable pathways for treatment.
Clinical
|
IGH (Immunoglobulin Heavy Locus) • CD5 (CD5 Molecule)
|
IGH mutation • Chr del(13)(q14)
1year
Longitudinal Profiling Identifies Genetic Mechanisms of Resistance to Four Different Drug Classes in a t(4; 14) Positive Patient (IMW 2023)
At relapse they received daratumumab based salvage in combination with lenalidomide and then pomalidomide...The first profiled bone marrow was collected during leukapheresis for cilta-cel but due to progressive disease the patient received an FCRL5 directed bispecific, and a second sample was collected at progression after a brief sCR to this agent... This case represents the first known bi-allelic loss of CD38 and acquired loss of FCRL5 expression. These events, along with the loss of BCMA highlight the need for more advanced clinical testing to assess the actionability of the diverse therapeutic targets available to treat patients today.
Clinical • IO biomarker
|
CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • TNFRSF17 (TNF Receptor Superfamily Member 17) • BCL2L11 (BCL2 Like 11) • IKZF3 (IKAROS Family Zinc Finger 3) • SDC1 (Syndecan 1)
|
CDKN2A deletion • RB1 deletion • SDC1 positive • Chr del(13)(q14)
|
lenalidomide • Darzalex (daratumumab) • pomalidomide • Carvykti (ciltacabtagene autoleucel)
1year
Ibrutinib and Venetoclax Followed by CAR‑T Cell Therapy as First‑Line Treatment in an Elderly Patient With Mantle Cell Lymphoma With a TP53 Gene Mutation and Hyperleukocytosis (SOHO 2023)
Combining targeted and cell therapy in elderly patients with high-risk MCL with a TP53 gene mutation is an effective and potentially curative strategy.
Clinical • CAR T-Cell Therapy • IO biomarker
|
TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2)
|
TP53 mutation • Chr del(13)(q14)
|
Venclexta (venetoclax) • Imbruvica (ibrutinib)
over1year
Subgroup-specific gene expression profiles and mixed epistasis in chronic lymphocytic leukemia. (PubMed, Haematologica)
We detected strong differentially expressed gene signatures associated with major gene mutations and copy-number aberrations including SF3B1, BRAF and TP53, as well as del(17)(p13), del(13)(q14) and del(11)(q22.3) beyond dosage effect. Our study reveals previously underappreciated gene expression signatures for the major molecular subtypes in CLL and the presence of epistasis between them.
Journal • Gene Expression Profile
|
BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus)
|
TP53 mutation • BRAF mutation • SF3B1 mutation • IGH mutation • Chr del(13)(q14) • TS 12
over1year
APPLICATION OF WHOLE-GENOME SEQUENCING FOR COPY NUMBER ABNORMALITY IN MULTIPLE MYELOMA (EHA 2023)
sWGS is superior to conventional approaches when used for CNA testing, the practice of this method maybe improves prognostic stratification of MM patients and the clinical significance of some variation remains to be studied.
SDC1 (Syndecan 1)
|
Chr del(13)(q14) • Chr del(1p)
|
LeukoPrint®
over1year
ASSESSMENT OF THE DEVELOPMENT OF B CELL MALIGNANCIES IN A NOVEL MURINE MODEL CARRYING DLEU2 DELETION (EHA 2023)
Despite the small sample number, our preliminary data suggest that both Dleu2 deletions could promote the development of a lymphoproliferative disorder in aged mice; however, up to now, the small number of mice did not allow us to define whether the RPIII regulation impact differently on the development and progression of a B cells malignancies. Transcriptional regulation, B cell lymphoma, B cell chronic lymphocytic leukemia, Animal model
Preclinical
|
CD5 (CD5 Molecule) • MIR16 (MicroRNA 16) • MIR15A (MicroRNA 15a)
|
Chr del(13)(q14)
over1year
GENE-GENE INTERACTIONS IN PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA WITH VARIOUS CYTOGENETIC PROGNOSTIC FACTORS (EHA 2023)
The presence of gene polymorphisms IL1β -1473G>C, IL10 -1082G>A, TLR3 1234C>G, TLR4 896A>G, and TGFβ 74G>C can serve to identify groups of patients with poor prognosis for CLL. Gene polymorphism, Chronic lymphocytic leukemia, Cytogenetics, Prognosis
Clinical
|
IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • IL10 (Interleukin 10) • CD14 (CD14 Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • TLR4 (Toll Like Receptor 4) • FCGR2A (Fc fragment of IgG receptor IIa) • TLR3 (Toll Like Receptor 3) • IL1B (Interleukin 1, beta) • TLR2 (Toll Like Receptor 2)
|
Chr del(17p) • Chr del(11q) • Chr del(13)(q14) • TS 12
over1year
Platelet-Derived Growth Factor-D Fusion-Positive Dermatofibrosarcoma Protuberans: Case Report of an Atypical Breast Mass and Literature Review. (PubMed, Int J Surg Pathol)
The tumor was completely resected with clear margins, showed no fibrosarcomatous areas, and no evidence of recurrence is documented 2 years since resection. This review and case report adds to the literature regarding PDGFD-translocation positive DFSP as a differential diagnosis of CD34-positive spindle cell tumors of the breast, while emphasizing the prognostic importance of EMILIN2::PDGFD fusions.
Review • Journal
|
CD34 (CD34 molecule) • COL1A1 (Collagen Type I Alpha 1 Chain) • PDGFB (Platelet Derived Growth Factor Subunit B) • STAT6 (Signal transducer and activator of transcription 6)
|
CD34 positive • Chr del(13)(q14)
over1year
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions. (PubMed, Cancer Genet)
In addition, RNA-seq analyses identified four chimeric transcripts (ATG4B::PTMA, OAZ1::PTMA, ZFP36::PTMA, and PIM3::BRD1), two of which (ATG4B::PTMA and ZFP36::PTMA) failed to be detected at the remission, suggesting a possible transcriptional remodeling during the disease course. Overall, our results indicate a favorable prognostic impact of the described chromosomal aberration, as it arises a permissive molecular landscape to the spontaneous B-CLL regression in the patient, highlighting ARHGAP24 as a potentially relevant concurrent alteration to the 13q14 deletion in delineating B-CLL disease evolution.
Journal • IO biomarker
|
TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • TOP2A (DNA topoisomerase 2-alpha) • PCNA (Proliferating cell nuclear antigen) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • CHN1 (Chimerin 1) • MIR16 (MicroRNA 16) • ATG4B (Autophagy Related 4B Cysteine Peptidase) • MIR15A (MicroRNA 15a) • MIR16-1 (MicroRNA 16-1) • ZFP36 (ZFP36 Ring Finger Protein)
|
Chr del(13)(q14)
almost2years
Incremental Clinically Relevant Information in 70 CLL Cases with Optical Genome Mapping: Going Beyond Karyotype and FISH (ASH 2022)
The deletion of the RB1 gene along with miR15a/16-1 has been associated with poor prognosis, while the deletion of miR15a/16-1 deletion alone reflects a good prognosis in CLL cases.Conclusion :OGM provides a genome-wide analysis that reveals a simple or complex profile along with 13q14 deletion, which is of high significance, as a complex profile is associated with poor prognosis in CLL, and required additional methods such as karyotyping and CMA. OGM alleviates the need for multiple technologies, and can better assist the physician in correlating the genetic profile with disease progression/response to therapy compared to a targeted approach, and exemplifies its utility compared to SOC methods.
Clinical
|
RB1 (RB Transcriptional Corepressor 1) • MIR15A (MicroRNA 15a)
|
RB1 deletion • Chr del(13)(q14)
almost2years
Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients. (PubMed, Cancer Rep (Hoboken))
The correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities and CD38 expression may reveal the overall patient's survival rate. The mutations may be effective in the clonal expansion and progression of CLL, particularly in the diagnosis stage, as well as the control and management of the treatment.
Journal • IO biomarker
|
NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • CD38 (CD38 Molecule)
|
NOTCH1 mutation • Chr del(11q) • SF3B1 mutation • CD38 expression • CD38 positive • NOTCH1 expression • Chr del(13)(q14) • SF3B1 K666E
2years
The Independent Adverse Prognostic Significance of 1q21 Gain/Amplification in Newly Diagnosed Multiple Myeloma Patients (ASH 2022)
1q21+ is an independent high-risk cytogenetic factor for poor prognosis in NDMM patients, of which 4 or more copy numbers and main clone position significantly associated with prognosis results. By combining FISH, CytoScan and other technologies with related abnormalities such as 1q21+,17p-, 1p32-,t (4; 14), t(14; 16), etc., clinical characteristics, efficacy evaluation, and prognosis can be analyzed more accurately, aiming to identify patients with poor prognosis earlier and enhancing the possibility of moving forward to the treatment strategy based on risk stratification in the future.
Clinical • IO biomarker
|
CD38 (CD38 Molecule)
|
Chr del(13)(q14)
2years
Rapid Generation of Murine CLL/Richter Syndrome Models By Multiplexed CRISPR/Cas9 Editing of Common CLL Driver Genes (ASH 2022)
The effects of the introduced genetic lesions on leukemia cell growth and treatment resistance were investigated by analyzing the mutant allele frequency (MAF) of the injected cells and cells recovered from the spleens of untreated or venetoclax-treated mice... This study shows that multiplex CRISPR/Cas9 editing can be used to rapidly generate murine leukemias with the genetic make-up of human CLL or Richter Syndrome. These models can represent an important preclinical tool to study how individual genetic lesions cooperate during CLL development and progression and how they affect the response to treatment with novel therapeutic agents.
Preclinical
|
TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • CD19 (CD19 Molecule) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • BIRC3 (Baculoviral IAP repeat containing 3) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD5 (CD5 Molecule) • MGA (MAX Dimerization Protein MGA) • POT1 (Protection of telomeres 1) • NFKBIE (NFKB Inhibitor Epsilon) • CHD2 (Chromodomain Helicase DNA Binding Protein 2)
|
TP53 mutation • ATM mutation • NOTCH1 mutation • Chr del(13)(q14) • MGA mutation
|
Venclexta (venetoclax)
2years
Whole-Genome Sequencing for Copy Number Abnormalities in Multiple Myeloma Supersedes Karyotyping and Fluorescent in situ Hybridization (AMP 2022)
LeukoPrint is an automated, convenient, and cost-effective approach to depict CNA profile in gDNA or cfDNA. This method is superior to conventional approaches when used for CNA testing, and the practice of this method could improve prognostic stratification of MM patients.
SDC1 (Syndecan 1)
|
Chr del(13)(q14)
|
LeukoPrint®
2years
Competing endogenous RNA networks related to prognosis in chronic lymphocytic leukemia: comprehensive analyses and construction of a novel risk score model. (PubMed, Biomark Res)
The comprehensive analyses of RNA expression profiles provide pioneering insights into the molecular mechanisms of CLL. The novel risk score model and survival-related ceRNA networks promote the development of prognostic biomarkers and potential therapeutic vulnerabilities for CLL.
Journal
|
TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus) • CD123 (Interleukin 3 Receptor Subunit Alpha) • MIR324 (MicroRNA 324) • miR-185 (MicroRNA 185)
|
TP53 mutation • IGH mutation • Chr del(13)(q14)
2years
CLL-527 Significance of TP53 Codon 72 in a Cohort of Egyptian Chronic Lymphocytic Leukemia Patients. (PubMed, Clin Lymphoma Myeloma Leuk)
Our results can suggest that Pro/Pro genotype contributes to increased susceptibility to CLL risk in our population. Also, it has been observed that genotype (Pro/Pro) has been associated with expression of CD38, 17p del and male gender.
Journal • IO biomarker
|
TP53 (Tumor protein P53) • CD38 (CD38 Molecule)
|
CD38 expression • Chr del(13)(q14)
2years
Signifi cance of TP53 Codon 72 in a Cohort of Egyptian Chronic Lymphocytic Leukemia Patients (SOHO 2022)
Our results can suggest that Pro/Pro genotype contributes to increased susceptibility to CLL risk in our population. Also, it has been observed that genotype (Pro/Pro) has been associated with expression of CD38, 17p del and male gender.
Clinical • IO biomarker
|
TP53 (Tumor protein P53) • CD38 (CD38 Molecule)
|
CD38 expression • Chr del(13)(q14)
2years
Correlation of VEGF Expression with Serous Effusion in Multiple Myeloma Patients (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
The prognosis of MM patients with serous effusion is poor, and the expression of VEGF in serum of these patients is significantly high. The increased VEGF may be involved in the occurrence and development of serous effusion.
Journal
|
VEGFA (Vascular endothelial growth factor A)
|
VEGFA expression • Chr del(13)(q14)
2years
Study of cytogenetics and molecular biology in typical and atypical immunophenotypic chronic lymphocytic leukemia (PubMed, Zhonghua Xue Ye Xue Za Zhi)
No significant differences in overall survival (OS) and treatment-free survival (TFS) occurred between aCLL and tCLL using Kaplan-Meier analysis (P>0.05) . aCLL has characteristic immunophenotype, cytogenetic, and somatic mutation that differ from tCLL, and this can provide reliable information for the diagnosis and differential diagnosis between the two groups.
Journal
|
NOTCH1 (Notch 1) • CD22 (CD22 Molecule) • CD5 (CD5 Molecule) • CD200 (CD200 Molecule) • MME (Membrane Metalloendopeptidase) • ITGA4 (Integrin, alpha 4) • FCER2 (Fc Fragment Of IgE Receptor II)
|
NOTCH1 mutation • Chr del(13)(q14) • TS 12
over2years
The independent adverse prognostic significance of 1q21 gain in newly diagnosed multiple myeloma patients (IMW 2022)
The patients with 1q21 gain have obvious endorgan injury and higher tumor burden. They are easy to be combined with a variety of cytogenetic abnormalities such as 1p32-, 13q14-, t (4;14), characterized by complex karyotypes. Among them, patients with 4 copies and more of 1q21 amplification had a worse PFS than patients with 3 copies , and the median PFS was only 24 months.
Clinical
|
SDC1 (Syndecan 1)
|
Chr del(13)(q14)
over2years
Plasmablastic myeloma in Taiwan frequently presents with extramedullary and extranodal mass mimicking plasmablastic lymphoma. (PubMed, Virchows Arch)
FISH for targeted genetic alterations such as del(13q14), gain of chromosome 1q, loss of chromosome 1p, and IGH-FGFR3 might be helpful for the differential diagnoses. Larger studies are warranted to investigate the genetic alterations between PBM and PBL.
Retrospective data • Journal • IO biomarker
|
TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • BCL2 (B-cell CLL/lymphoma 2) • FGFR3 (Fibroblast growth factor receptor 3) • CCND1 (Cyclin D1) • BCL6 (B-cell CLL/lymphoma 6) • NCAM1 (Neural cell adhesion molecule 1)
|
TP53 deletion • MYC expression • CCND1 expression • BCL2 rearrangement • Chr del(13)(q14)
over2years
CD43 is an adverse prognostic factor in newly diagnosed multiple myeloma. (PubMed, Leuk Lymphoma)
The poorer prognosis of CD43-positive patients was retained in multivariate analysis (p = 0.005 for PFS; p = 0.013 for OS). Our study indicated that CD43 was an independent adverse prognostic factor in multiple myeloma.
Journal
|
SPN (Sialophorin)
|
Chr del(13)(q14) • SPN positive
over2years
CLINICOBIOLOGICAL CHARACTERISTICS AND TREATMENT EFFICACY OF NOVEL AGENTS IN CHRONIC LYMPHOCYTIC LEUKEMIA WITH IGLV3-21R110 (EHA 2022)
The HOVON-139/GIVE phase-II trial evaluated first-line minimal residual disease (MRD)-guided duration of treatment with obinutuzumab and venetoclax in CLL patients unfit for treatment with chemoimmunotherapy...There was no evidence for a predictive impact of the IGLV3-21 R110 genotype on the efficacy of the novel therapies with venetoclax and ibrutinib employed in the HOVON-139/GIVE and HOVON-141/VIsion trials. Our results suggest that novel targeted therapies may mitigate the adverse risk profile of IGLV3-21 R110 CLL. To determine whether these patients should preferentially receive novel therapies, characterization of the predictive impact of IGLV3-21 R110 in the setting of chemoimmunotherapy is warranted.
Clinical • IO biomarker
|
ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus)
|
ATM mutation • Chr del(11q) • SF3B1 mutation • Chr del(13)(q14) • TS 12
|
Venclexta (venetoclax) • Imbruvica (ibrutinib) • Gazyva (obinutuzumab)
over2years
The impact of bortezomib-based induction in newly diagnosed multiple myeloma with chromosome 1q21 gain. (PubMed, Ther Adv Hematol)
+1q is an adverse factor for OS in MM uniformly treated with bortezomib-based induction but was partially mitigated by ASCT. A risk scoring system comprising +1q, LDH, high-risk FISH, and ISS is a potential tool for risk stratification in MM.
Journal
|
SDC1 (Syndecan 1)
|
Chr t(4;14) • Chr t(14;16) • Chr del(13)(q14)
|
bortezomib
almost3years
Gene Mutation and Overexpression of Newly Diagnosed Multiple Myeloma Patients (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
There are multiple gene mutations and overexpression in NDMM. However, there is no dominated single mutation or overexpression of genes. The most common gene mutations are those in the RAS/MAPK pathway and the genes of cyclin family CCND are overexpression.
Journal • IO biomarker
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • FGFR3 (Fibroblast growth factor receptor 3) • CCND1 (Cyclin D1) • CRBN (Cereblon) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3) • PRDM1 (PR/SET Domain 1) • TENT5C (Terminal Nucleotidyltransferase 5C)
|
MYC overexpression • FGFR3 overexpression • CCND1 overexpression • CRBN expression • CRBN overexpression • KRAS overexpression • Chr del(13)(q14) • FGF3 overexpression
almost3years
Chronic lymphocytic leukemia in a young population. (PubMed, Leuk Res)
CLL is a rare hematological malignancy in the Middle East. Our CLL cohort is younger and expresses less del13q, but has similar rates of IGHV mutations.
Clinical • Retrospective data • Journal
|
IGH (Immunoglobulin Heavy Locus)
|
Chr del(11q) • IGH mutation • Chr del(13)(q14) • TS 12
almost3years
Utilization of a Targeted Next Generation Sequencing Assay to Identify Copy Number Alterations in Chronic Lymphocytic Leukemia and Monoclonal B-Cell Lymphocytosis (ASH 2021)
Here we show a high sensitivity, specificity, and NPV when comparing targeted sequencing with FISH. FISH panel testing is widely used in clinical practice to characterize highly prognostic chromosomal abnormalities in CLL. Comprehensive genetic profiling with NGS has become increasingly important in the work up of hematologic malignancies and provides additional prognostic and predictive information, including clinically relevant mutations such as TP53, SF3B1 , and NOTCH1, tumor mutation load and mutations associated with resistance to chemo-immunotherapy and targeted therapies, such as BTK or BCL2 inhibitors, that FISH cannot offer.
Next-generation sequencing • Tumor Mutational Burden • IO biomarker
|
TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NOTCH1 (Notch 1) • CD19 (CD19 Molecule) • SF3B1 (Splicing Factor 3b Subunit 1) • CD5 (CD5 Molecule)
|
TP53 mutation • Chr del(17p) • ATM mutation • NOTCH1 mutation • Chr del(11q) • SF3B1 mutation • Chr del(13)(q14) • Chr del(17p) + Chr del(11q) • TS 12
almost3years
Relapse with BCR-ABL1 Elevation in Chronic Myeloid Leukemia after Progression to Multiple Myeloma from Monoclonal Gammopathy of Undetermined Significance with a Persistent KMT2D Mutation (ASH 2021)
The patient started oral imatinib 400 mg per day and achieved a complete cytogenetic response at 3 months...Then the patient was started on treatment for ISS stage II standard risk myeloma with ID regimen: ixazomib 4 mg on days 1, 8 , 15 and dexamethasone 20 mg on days 1, 8, 15 , 22 in 28-day cycles...N1 Shangcheng Road. Yiwu, Zhejiang, Peoples R China.
IO biomarker
|
ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • FGFR3 (Fibroblast growth factor receptor 3) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2D (Lysine Methyltransferase 2D) • CD38 (CD38 Molecule) • NCAM1 (Neural cell adhesion molecule 1) • SDC1 (Syndecan 1) • CUX1 (cut like homeobox 1) • ZMYM3 (Zinc Finger MYM-Type Containing 3)
|
KMT2D mutation • CD38 expression • Chr t(4;14) • ABL1 expression • BCR expression • Chr del(13)(q14) • ZMYM3 mutation
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imatinib • Ninlaro (ixazomib) • dexamethasone
3years
Investigating the Addition of Ianalumab (VAY736) to Ibrutinib in Patients with Chronic Lymphocytic Leukemia (CLL) on Ibrutinib Therapy: Results from a Phase Ib Study (ASH 2021)
Although Bruton’s tyrosine kinase inhibitors (BTKis; acalabrutinib, ibrutinib) are the current standard of care for CLL, the indefinite length of monotherapy required may result in cumulative clinical or economic toxicity and/or acquired treatment resistance. VAY736 + ibrutinib was well tolerated with an acceptable safety profile enabling dose expansion. Clinical activity was observed including multiple pts attaining uMRD status in blood and BM, allowing 6 to discontinue ibrutinib therapy for an extended period. These data provide clinical evidence of the potent anti-leukemia activity of VAY736 and the potential to safely discontinue ibrutinib or other BTKi by VAY736 add-on therapy.
Clinical • P1 data
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IGH (Immunoglobulin Heavy Locus) • PLCG2 (Phospholipase C Gamma 2)
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Chr del(17)(p13.1) • PLCG2 mutation • BTK C481 • Chr del(13)(q14)
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Imbruvica (ibrutinib) • Calquence (acalabrutinib) • ianalumab (VAY736)
3years
13q14 Deletion and Its Effect on Prognosis of Chronic Lymphocytic Leukemia. (PubMed, Cureus)
Regarding CLL treatment, conventional therapy with alkylating agents has been used for a long time, which reported low- to non-existent complete remission rates and adverse events after prolonged use. Moreover, research into the 13q14 deletion has also provided new insights into the molecular genetics and pathways that interact in such a way, making it possible to transform healthy cells into malignant cells in an entirely new fashion with a complete disregard to its original form, resulting in CLL.
Review • Journal
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MIR15A (MicroRNA 15a)
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Chr del(13)(q14)