Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
To evaluate the roles of thiopurine methyltransferase (TPMT), inosine triphosphatase (ITPA), and Nudix hydrolase 15 (NUDT15) in 6-mercaptopurine (6-MP) sensitivity during treatment of pediatric patients with acute lymphoblastic leukemia (ALL).
|
31635813 |
2020 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These results support the role of PACSIN2 polymorphism on TPMT activity and mercaptopurine adverse effects in patients with ALL.
|
31792371 |
2019 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 96 children with ALL undergoing therapy with MCP-841 protocol were screened for all the ten exons of TPMT, exon 2, exon 3 and intron 2 of ITPA using bidirectional sequencing.
|
30806759 |
2019 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The present study assessed the genetic polymorphisms and activity of TPMT in children with AML at different treatment stages, and compared the results with those obtained for children with ALL.
|
30214603 |
2018 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The high frequency of risk variant for NUDT15, but not the very low frequency of risk variant for TPMT, was closely associated with the intolerance to mercaptopurine in children with ALL in Taiwan, contrast to that of European descent.
|
26503813 |
2016 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To note, the null homozygous TPMT*3A/TPMT*3A genotype was found in 2.5% of the non-ALL subjects.
|
28476189 |
2016 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
There are examples of germline genomic associations that warrant routine clinical use in the treatment of childhood ALL (eg, TPMT and mercaptopurine dosing), but most have not reached this level of actionability.
|
25999454 |
2015 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model.
|
25099492 |
2015 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to evaluate the influence of the most common genetic variants in methylenetetrahydrofolate reductase (MTHFR), thiopurine methyltransferase (TPMT) and glutathione-S-transferases (GSTs) on the outcome of acute lymphoblastic leukemia (ALL) treatment in Argentinean children.
|
25110820 |
2015 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, to date, TPMT is the only pharmacogenetic marker in ALL with clinical guidelines for drug dosing.
|
25155938 |
2014 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No statistically significant differences between admixed and indigenous ALL (p = 0.67) or controls (p = 0.41) groups were detected; however, 17 % of the admixed healthy group bore one TPMT mutant allele, and they have one of the highest reported frequencies of TPMT mutant allele carriers.
|
23377985 |
2013 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, TPMT*2, TPMT 719*G and CYP1A1*2 variants did not appear to influence ALL susceptibility (p > 0.05).
|
23065291 |
2013 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The rationale of this study was to explore the contribution of genetic variants of the folate pathway to toxicity of 6-mercaptopurine (6-MP)-mediated hematological toxicity in children with acute lymphoblastic leukemia (ALL) and to explore the interaction of these variants with TPMT and ITPA haplotypes using multifactor dimensionality reduction analysis.
|
22838948 |
2012 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To explore the role of genetic variants of thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) in 6-mercaptopurine (6-MP)-induced toxicity in Indian children with acute lymphoblastic leukemia (ALL).
|
22009189 |
2012 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To identify additional genetic determinants of mercaptopurine toxicity, a genome-wide analysis was performed in a panel of human HapMap cell lines to identify trans-acting genes whose expression and/or single-nucleotide polymorphisms (SNPs) are related to TPMT activity, then validated in patients with ALL.
|
22846425 |
2012 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Decision analysis was used to evaluate the impact of TPMT tests on preventing myelosuppression and improving survival in ALL patients receiving 6-MP.
|
21344614 |
2011 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency and distribution of common TPMT polymorphisms in Turkish children with ALL is similar to other Caucasian populations.
|
21400026 |
2011 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mercaptopurine dose can be adjusted on the basis of TPMT genotype to mitigate toxicity in pediatric patients with ALL.
|
20021291 |
2010 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of thiopurine S-methyltransferase (TPMT) polymorphism and its association with clinical and hematological toxicities was retrospectively analyzed in 71 Indian children with acute lymphoblastic leukemia (ALL).
|
20153897 |
2010 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data suggest that children with ALL and TPMT wild type might have their cure rate improved, if the pharmacokinetics/-dynamics of TPMT low-activity patients could be mimicked without a concurrent excessive risk of second cancers.
|
18987654 |
2009 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, genetic polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of severe febrile neutropenia, after combination chemotherapy for ALL in which mercaptopurine doses are individualized on the basis of TPMT genotype.
|
18685564 |
2009 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also characterized disease features and outcome according to the presence of TPMT SNPs in children with acute lymphoblastic leukemia (ALL).
|
19034904 |
2009 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping.
|
18385010 |
2008 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The TPMT genotype was determined in 55 patients with ALL.
|
16966276 |
2006 |
Adult Acute Lymphocytic Leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was euro 2100 (or euro 4800 after 3% discount) based on genotyping costs of euro 150 per patient.
|
16886902 |
2006 |