Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression

Srinivasan, Vishrut K.; Naseem, Shano; Varma, Neelam; Lad, Deepesh; Malhotra, Pankaj

doi:10.5045/br.2020.2020080

Cited by 12 publications

(7 citation statements)

References 21 publications

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“…The male to female ratio in the control and CLL groups was 2:1 in the current study, with no significant difference between the two groups, which is similar to another conclusion from another study that mentions a comparable statistical ratio (1.8:1,1.5:1 respectively) (13) .…”

Section: Discussionsupporting

confidence: 91%

SF3B1 as a Diagnostic and Prognostic Factor in Iraqi Patient with Chronic Lymphocytic Leukemia

Abdullah¹,

Taher²,

Alwan³

et al. 2022

PJMHS

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An appropriate prognostic marker is crucial to evade cancer for a better prognosis and better life outcome and to raise the survival rate. The genesis of chronic lymphocytic leukemia has been linked to mutations in specific genes, such as SF3B1. A high rate of splicing factor 3 B1 mutation (SF3B1mut) has been linked to poor prognosis or treatment sensitivity in some forms of cancer.Thirty patients were grouped according to the first diagnosis, the staging of the CLL, follow-up examinations to measure their exposure to Rituximab after 3-6 months of treatment, and to the excluding criteria another Thirty healthy volunteers age and gender-matched were utilized as a control group.The mean age between study and control groups was (61.0 ± 10.7 vs. 59.8 ± 9.7 years); also, the male to female ratio was 2:1 in the control and CLL group, with no significant difference between both groups. Stage II was the most common type of CLL (53.3%), followed by III (35%) and stage IV (10%).SF3b1 was shown to be negative in all study groups, both (after ; before chemotherapy) and control group. Keywords: SF3B1,CLL,SF3B1mut

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Section: Discussionsupporting

confidence: 91%

SF3B1 as a Diagnostic and Prognostic Factor in Iraqi Patient with Chronic Lymphocytic Leukemia

Abdullah¹,

Taher²,

Alwan³

et al. 2022

PJMHS

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“…These mutations are recently identified as CLL disease parameters. The presence of these mutations is associated with at least one unfavorable prognostic marker [30][31][32][33]. However, these mutations were not detected in any of our patients.…”

Section: Discussioncontrasting

confidence: 50%

Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients

Eid

Kader

Fathalla

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Background Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia. This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic biomarkers. The most frequent aberrations include deletions in 13q14, followed by trisomy 12, and deletions in 11q22.3 and 17p13 (TP53). Currently, fluorescence in situ hybridization (FISH) is the most widely used molecular cytogenetic technique to detect these aberrations. However, FISH is laborious, time-consuming, expensive, and has a low throughput. In contrast, multiplex ligation-dependent probe amplification (MLPA) is a reliable, cost-effective, and relatively rapid technique that can be used as a first-line screening tool and complement with FISH analysis. This study aimed to evaluate the contributions of MLPA as a routine standalone screening platform for recurrent chromosomal aberrations in CLL in comparison to other procedures. Thirty patients with CLL were screened for the most common genomic aberrations using MLPA with SALSA MLPA probemix P038-B1 CLL and FISH. Results In 24 of the 30 cases (80%), the MLPA and FISH results were concordant. Discordant results were attributed to a low percentage of mosaicism. Moreover, the MLPA probemix contains probes that target other genomic areas known to be linked to CLL in addition to those targeting common recurrent CLL aberrations. Conclusions The usage of MLPA as the first screening platform followed by FISH technique for only the negative cases is the most appropriate approach for CLL diagnosis and prognosis.

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“…In this signature which consisted of nine prognostic lncRNAs related to redox genes, COLCA1 has been reported and identified as a key lncRNA in colorectal cancer [30][31][32], and DLEU2 has been reported related to the development of multiple cancers [33][34][35][36]. Chen et al reported that lncRNA DLEU2 could regulate miR-30a-5p and related to the aggressiveness of ccRCC [37].…”

Section: Discussionmentioning

confidence: 99%

Development and Validation of a Nine-Redox-Related Long Noncoding RNA Signature in Renal Clear Cell Carcinoma

Xia

Yang

et al. 2020

Oxidative Medicine and Cellular Longevity

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Background. Redox plays an essential role in the pathogeneses and progression of tumors, which could be regulated by long noncoding RNA (lncRNA). We aimed to develop and verify a novel redox-related lncRNA-based prognostic signature for clear cell renal cell carcinoma (ccRCC). Materials and Methods. A total of 530 ccRCC patients from The Cancer Genome Atlas (TCGA) were included in this study. All the samples were randomly split into training and test group at a 1 : 1 ratio. Then, we screened differentially expressed redox-related lncRNAs and constructed a novel prognostic signature from the training group using the least absolute shrinkage and selection operation (LASSO) and COX regression. Next, to verify the accuracy of the signature, we conducted risk and survival analysis, as well as the construction of ROC curve, nomogram, and calibration curves in the training group, test group, and all samples. Finally, the redox gene-redox-related lncRNA interaction network was constructed, and gene set enrichment analysis (GSEA) was performed to investigate the status of redox-related functions between high/low-risk groups. Results. A nine-redox-related lncRNA signature consisted of AC025580.3, COLCA1, AC027601.2, DLEU2, AC004918.3, AP006621.2, AL031670.1, SPINT1-AS1, and LAMA5-AS1 was significantly associated with overall survival in ccRCC patients. The signature proved efficient, and thus, a nomogram was successfully assembled. In addition, the GSEA results demonstrated that two major redox-related functions were enhanced in the high-risk group ccRCC patients. Conclusions. Our findings robustly demonstrate that the nine-redox-related lncRNA signature could serve as an efficient prognostic indicator for ccRCC.

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Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression

Cited by 12 publications

References 21 publications

SF3B1 as a Diagnostic and Prognostic Factor in Iraqi Patient with Chronic Lymphocytic Leukemia

SF3B1 as a Diagnostic and Prognostic Factor in Iraqi Patient with Chronic Lymphocytic Leukemia

Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients

Development and Validation of a Nine-Redox-Related Long Noncoding RNA Signature in Renal Clear Cell Carcinoma

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