Chr del(13)(q14)

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Combining targeted and cell therapy in elderly patients with high-risk MCL with a TP53 gene mutation is an effective and potentially curative strategy.

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.

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.

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

+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.

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.

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.

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.

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.

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.

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.