|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
TPMT activity exhibits genetic polymorphism, with about 1/300 inheriting TPMT deficiency as an autosomal recessive trait.
|
10764140 |
2000 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four patients (10%) had 2 mutant alleles associated with TPMT deficiency, 7 (17%) had 1 mutant allele, and 30 (73%) had no known TPMT mutation.
|
10833476 |
2000 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of 23 patients evaluated, six had TPMT deficiency (activity < 5 U/mL of packed RBCs [pRBCs]; homozygous mutant), nine had intermediate TPMT activity (5 to 13 U/mL of pRBCs; heterozygotes), and eight had high TPMT activity (> 13.5 U/mL of pRBCs; homozygous wildtype).
|
11304783 |
2001 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The development of severe bone marrow toxicity, in patients taking standard doses of thiopurine drugs, is associated with TPMT deficiency whilst the TPMT heterozygote is at an increased risk of developing myelosuppression.
|
23962279 |
2014 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutant alleles TPMT*2 (238G>C), TPMT*3A (460G>A, 719A>G), TPMT*3B (460G>A), and TPMT*3C (719A>G) account for 80-95% of TPMT deficiency observed in Caucasian populations.
|
14967158 |
2004 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The TPMT biochip was used to detect 6 TPMT single nucleotide polymorphisms (SNPs) corresponding to 7 TPMT-deficiency alleles (TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C, TPMT*3D, TPMT*7, and TPMT*8).
|
19034904 |
2009 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The specially designed TPMT biochip can recognize six point mutations in the TPMT gene and seven corresponding alleles associated with TPMT deficiency: TPMT*2; TPMT*3A, TPMT*3B, TPMT*3C, TPMT*3D, TPMT*7, and TPMT*8.
|
16724002 |
2006 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three main TPMT alleles: TPMT*2 (c.238G>C), TPMT*3A (c.460G>A, c.719A>G) and TPMT*3C (c.719A>G) account for 80-95 % of inherited TPMT deficiency in different populations in the world.
|
27307154 |
2016 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pharmacogenetic screening for TPMT polymorphisms before commencing azathioprine therapy may help to prevent severe hematotoxicity in patients with TPMT deficiency.
|
17241387 |
2007 |
|
Thiopurine S methyltranferase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
TPMT deficiency in one patient had led to pancytopenia whereas only two of the remaining four patients with hematotoxicity displayed an intermediate phenotype of TPMT.
|
12172211 |
2002 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, our results indicated that TPMT or COMT genetic variation was not related to cisplatin ototoxicity in children with cancer and did not influence cisplatin-induced hearing damage in laboratory models.
|
23820299 |
2013 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NUDT15 and TPMT genetic polymorphisms are related to 6-mercaptopurine intolerance in children treated for acute lymphoblastic leukemia at the Children's Cancer Center of Lebanon.
|
27577869 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This finding raises the question whether the TPMT genotype can contribute to any genetic predisposition for development of the malignancy.
|
10679940 |
2000 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts.
|
25551397 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The clinical course of this patient raises the possibility that low-activity TPMT genotypes may influence 6TG toxicity in patients with AML and lead to an increased risk of developing secondary malignant neoplasms.
|
25000470 |
2015 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Insights gained from studies of the TPMT polymorphism illustrate the potential of pharmacogenomics to optimize cancer therapy by avoiding toxic side effects in genetically distinct subgroups of patients.
|
14576848 |
2003 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sixty hundred and ninety-five patients (90.6%) included in the TOPIC-trial had no variant in TPMT, of which 45 (6.5%) developed leucopenia.
|
28914446 |
2017 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition to variation in TPMT (thiopurine S-methyltransferase), the NUDT15 p.R139C variant was recently identified to have a strong association with AZA-induced leukopenia.
|
28566182 |
2017 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heritable deficiency of TPMT enzyme activity and polymorphisms may lead to leukopenia.
|
24322830 |
2014 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our work supports the strong evidence that individuals with TPMT variant homozygosity are at high risk of severe neutropenia, whereas TPMT heterozygotes are not at increased risk of ADRs at standard doses of azathioprine.
|
21692613 |
2011 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in TPMT might be associated with myelotoxicity and leukopenia in AZA treated patients, while ITPA variant alleles appear not to be linked with treatment-related side effects.
|
26674571 |
2016 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
TPMT genotype correlated with 6-TGN concentrations (0.576, P < 0.01), and patients with mutant alleles had a relative risk (RR) of 12.0 (CI95% 1.7-92.3) of developing leukopenia.
|
15167634 |
2004 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In Koreans, this variant demonstrated sensitivity and specificity of 89.4% and 93.2%, respectively, for thiopurine-induced early leukopenia (in comparison to 12.1% and 97.6% for TPMT variants).
|
25108385 |
2014 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
White blood cell count-based dose adjustments are regularly performed for known TPMT- deficient patients and results in a reduced risk of neutropenia and febrile neutropenia.
|
31635813 |
2020 |
|
Leukopenia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The study confirmed the association of thiopurine methyltransferase heterozygosity with leucopenia and neutropenia in ALL patients and reported a significant association between inosine triphosphatase IVS2+21A-->C variants with thrombocytopenia (P = 0.012).
|
18662289 |
2008 |