RGD Reference Report - Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. - Rat Genome Database

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Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.

Authors: Strom, SS  Estey, E  Outschoorn, UM  Garcia-Manero, G 
Citation: Strom SS, etal., Leuk Lymphoma. 2010 Apr;51(4):598-605. doi: 10.3109/10428190903582804.
RGD ID: 11252173
Pubmed: PMID:20141440   (View Abstract at PubMed)
PMCID: PMC2918264   (View Article at PubMed Central)
DOI: DOI:10.3109/10428190903582804   (Journal Full-text)

In acute myeloid leukemia (AML), cytogenetics predicts treatment outcome for the favorable and poor subgroups but not for the intermediate subgroup. Polymorphisms within the nucleotide excision repair (NER) pathway may lead to interindividual differences in DNA repair capacity, influencing outcome. We studied the role of six polymorphisms (ERCC1 Gln504Lys, XPD Lys751Gln, XPC Ala499Val, XPC Lys939Gln, XPG Asp1104His, and CCNH Val270Ala) in overall and disease-free survival among 170 adult de novo patients with intermediate cytogenetics (diploid [n = 117]; non-diploid [n = 53]), treated with induction chemotherapy. Kaplan-Meier and Cox proportional hazards models were performed. Diploid patients with the XPD AC/CC genotype survived shorter than those with the wild-type genotype (median survival 22 vs. 40 months, p = 0.03). Diploid patients with XPC CT/TT genotype survived shorter than those with the wild-type genotype (median survival 15 vs. 30 months, p = 0.02). After adjusting for clinical and sociodemographic variables, patients carrying both XPD AC/CC and XPC CT/TT had a greater than two-fold increased risk of dying, compared to those with the wild-type genotypes (HR = 2.49; 95% CI: 1.06-5.85). No associations were observed for disease-free survival. This combined genotype may modulate treatment effect, decreasing overall survival. These findings could in the future help select treatments for patients with normal cytogenetics.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
ERCC1Humanacute myeloid leukemia no_associationIAGP DNA:SNP: :p.Q504K (human)RGD 
ERCC2Humanacute myeloid leukemia disease_progressionIAGP DNA:polymorphism: :p.K751Q (rs13181) (human)RGD 
Ercc1Ratacute myeloid leukemia no_associationISOERCC1 (Homo sapiens)DNA:SNP: :p.Q504K (human)RGD 
Ercc1Mouseacute myeloid leukemia no_associationISOERCC1 (Homo sapiens)DNA:SNP: :p.Q504K (human)RGD 
Ercc2Ratacute myeloid leukemia disease_progressionISOERCC2 (Homo sapiens)DNA:polymorphism: :p.K751Q (rs13181) (human)RGD 
Ercc2Mouseacute myeloid leukemia disease_progressionISOERCC2 (Homo sapiens)DNA:polymorphism: :p.K751Q (rs13181) (human)RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
ERCC1HumanAbnormality of blood and blood-forming tissues no_associationIAGP DNA:SNP: :p.Q504K RGD 
ERCC2HumanAbnormality of blood and blood-forming tissues disease_progressionIAGP DNA:polymorphism: :p.K751Q (rs13181)RGD 

Genes (Rattus norvegicus)
Ercc1  (ERCC excision repair 1, endonuclease non-catalytic subunit) Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)

Genes (Mus musculus)
Ercc1  (excision repair cross-complementing rodent repair deficiency, complementation group 1) Ercc2  (excision repair cross-complementing rodent repair deficiency, complementation group 2)

Genes (Homo sapiens)
ERCC1  (ERCC excision repair 1, endonuclease non-catalytic subunit) ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)