Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP

Nadimi, Motahareh; Rahgozar, Soheila; Moafi, Alireza; Tavassoli, Manoochehr; Tanha, Hamzeh Mesrian

doi:10.1016/j.cancergen.2016.06.005

Cited by 10 publications

(11 citation statements)

References 21 publications

(26 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Detailed selection of targeted therapies can help us to explore more about the potential pathways or resistance mechanisms. Additional to the NGS, other methods had been used such as Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and gel electrophoresis [31], the tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) [32]. These are the simple and economical method to genotype single-nucleotide polymorphisms (SNPs) had been used as valuable tools for genotyping and genetic fingerprinting.…”

Section: Discussionmentioning

confidence: 99%

Gene mutational analysis by NGS and its clinical significance in patients with myelodysplastic syndrome and acute myeloid leukemia

et al. 2020

Exp Hematol Oncol

View full text Add to dashboard Cite

Background: In this study, we retrospectively summarized the differences of molecular gene mutations between MDS and AML patients, as well as the young and older age groups of MDS and AML patients. We also analyzed the response of newly diagnosed AML patients to standard DA or IA induction chemotherapy and the relationship between the chemotherapy outcome and the frequency of different gene mutation abnormalities. Methods: NGS assay covering 43 genes was studied in 93 de novo MDS and 325 non-M3 AML patients. Bone marrow samples from all patients underwent gene mutational analysis by NGS. Results: At least one non-synonymous gene mutation was detected in 279 AML patients (85.8%) and 85 MDS patients (91.4%). Contrary to 59 years and younger AML patients, there was a significantly higher incidence of gene mutation in 60 years and older AML patients (2.37 vs 1.94, p = 0.034). Gene mutation incidence in 60 years and older MDS patients increased, but no statistical significance was present (1.95 vs 1.64, p = 0.216). AML patients had a significantly higher gene mutation incidence compared with MDS-MLD patients (2.02 vs 1.63, p = 0.046). Gene mutation incidence was higher in patients with MDS-EB1/EB2 compared with patients with MDS-MLD but there was no statistical significance present (2.14 vs 1.63, p = 0.081). AML patients had significantly higher incidences of CEBPA, FLT3-ITD, DNMT3A, NPM1 and IDH1/2 gene mutations (p = 0.0043, 0.000, 0.030962, 0.002752, and 0.000628, respectively) and a lower incidence of TET2 and U2AF1 gene mutations (p = 0.000004 and 0.000, respectively) compared with MDS patients. Among the individual genes in different age groups, there were significantly higher incidences of RUNX1, IDH2, TP53 and SF3B1 gene mutations (p = 0.0478, 0.0028, 0.0024 and 0.005, respectively) as well as a trend of higher ASXL gene mutation (p = 0.057) in 60 years and older AML patients compared to 59 years and younger patients. There was no statistically significant difference in MDS patients with the different age groups and among the individual genes. Between AML patients and MDS patients among the different gene functional groups, AML patients had a significantly higher incidence of transcriptional deregulation (27.4% vs 15.1%, p = 0.014963), activated signalling (36.3% vs 10.8%, p = 0.000002) related gene mutations as well as a significantly lower incidence of RNA spliceosome (6.15% vs 60.1%, p = 0.000) related gene mutations. Furthermore, among the patients who received either IA or DA regimen

show abstract

Section: Discussionmentioning

confidence: 99%

Gene mutational analysis by NGS and its clinical significance in patients with myelodysplastic syndrome and acute myeloid leukemia

et al. 2020

Exp Hematol Oncol

View full text Add to dashboard Cite

show abstract

“…Based on our previous studies four target gene transcripts including ABCA2, ABCA3, ABCB1, and BAALC genes whose expressions were significantly higher in drug resistant ALL patients, were considered to identify a putative miRNA. Online prediction software miRWalk 2.0 (zmf.umm.uni‐heidelberg.de/apps/zmf/mirwalk2), TargetScan 7.1 (http://www.targetscan.org/vert_71/), http://microrna.org (http://www.microrna.org/microrna/home.do) and miRTar (http://mirtar.mbc.nctu.edu.tw/human/) were used to predict miRNAs targetting the aforementioned candidate mRNAs.…”

Section: Methodsmentioning

confidence: 99%

MicroRNA‐326 and microRNA‐200c: Two novel biomarkers for diagnosis and prognosis of pediatric acute lymphoblastic leukemia

Ghodousi

Rahgozar²

2018

J of Cellular Biochemistry

Self Cite

View full text Add to dashboard Cite

Multidrug resistance (MDR) is considered as the major obstacle for treating pediatric acute lymphoblastic leukemia (ALL). MicroRNAs (miRNAs) are small non coding RNAs which may potentially regulate response to chemotherapy. In this study, total RNA was isolated from bone marrow samples of 46 children with de novo ALL and 16 controls. Quantitative reverse transcriptase polymerase chain reaction was used to investigate the expression profile of the predicted miRNAs; miR-326 and miR-200c, and their predicted targets ABCA2, and ABCA3 transporters. The presence of minimal residual disease was studied using PCR-SSCP (single-strand conformation polymorphism) 1 year after treatment. The association between the miRNA expression and drug resistance was analyzed statistically. Results showed a significant down-regulation of both miR-326 and miR-200c expressions in ALL patients compared with non-cancer controls (P = 0.0002, AUC = 0.813 and P = 0.035, AUC = 0.79, respectively). A considerable negative association between miR-326 expression and MDR was identified which could raise the risk of chemoresistance by 4.8- fold. The expression profiles of miR-326 and ABCA2 transporter were inversely correlated. Data revealed, a novel diagnostic role for miR-326 and miR-200c as potential biomarkers of pediatric ALL. Down-regulation of miR-326 was introduced, for the first time, as a prognostic factor for drug resistance in childhood ALL. To the best of our knowledge, this is the first time that ABCA2 transporter is proposed as a target gene for miR-326, through which it can exert its impact on drug resistance. These data may provide novel approaches to new therapeutics and diagnostics.

show abstract

“…The GT genotype may lead to an increase in the risk of drug resistance in pre-B-ALL and T-ALL cases by 2.86 and 8.75 folds, respectively, compared with those with GG genotype. However, patients who have GG genotype show no difference in response to chemotherapy (27).…”

Section: Polymorphismsmentioning

confidence: 97%

“…These biomarkers are essential for the assessment of the risk of relapse at diagnosis and could be useful in identification of patients requiring more intensive therapy (5,16). The exact assignment of patients to various risk groups is critical to determine the premium therapeutic strategy for each patient and results in increased patient survival rate and reduced medical costs (27). Risk-based treatment is emphasized in therapeutic protocols for chALL to decrease the toxicity in low risk children and provide aggressive treatments for those with high risk of disease recurrence (21).…”

Section: All Prognostic Biomarkersmentioning

confidence: 99%

Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia

et al. 2020

Self Cite

View full text Add to dashboard Cite

Biomarkers are biological molecules found in body fluids or tissues, which can be considered as indications of a normal or abnormal process, or of a condition or disease. There are various types of biomarkers based on their application and molecular alterations. Treatment-sensitivity or drug resistance biomarkers include prognostic and predictive molecules with utmost importance in selecting appropriate treatment protocols and improving survival rates. Acute lymphoblastic leukemia (ALL) is the most prevalent hematological malignancy diagnosed in children with nearly 80% cure rate. Despite the favorable survival rates of childhood ALL (chALL), resistance to chemotherapeutic agents and, as a consequence, a dismal prognosis develops in a significant number of patients. Therefore, there are urgent needs to have robust, sensitive, and disease-specific molecular prognostic and predictive biomarkers, which could allow better risk classification and then better clinical results. In this article, we review the currently known drug resistance biomarkers, including somatic or germ line nucleic acids, epigenetic alterations, protein expressions and metabolic variations. Moreover, biomarkers with potential clinical applications are discussed.

show abstract

Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP

Cited by 10 publications

References 21 publications

Gene mutational analysis by NGS and its clinical significance in patients with myelodysplastic syndrome and acute myeloid leukemia

Gene mutational analysis by NGS and its clinical significance in patients with myelodysplastic syndrome and acute myeloid leukemia

MicroRNA‐326 and microRNA‐200c: Two novel biomarkers for diagnosis and prognosis of pediatric acute lymphoblastic leukemia

Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia

Contact Info

Product

Resources

About