RGD Reference Report - XPD gene polymorphisms and the effects of induction chemotherapy in cytogenetically normal de novo acute myeloid leukemia patients. - Rat Genome Database

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XPD gene polymorphisms and the effects of induction chemotherapy in cytogenetically normal de novo acute myeloid leukemia patients.

Authors: El-Tokhy, MA  Hussein, NA  Bedewy, AM  Barakat, MR 
Citation: El-Tokhy MA, etal., Hematology. 2014 Oct;19(7):397-403. doi: 10.1179/1607845413Y.0000000144. Epub 2013 Nov 28.
RGD ID: 11252190
Pubmed: PMID:24284041   (View Abstract at PubMed)
DOI: DOI:10.1179/1607845413Y.0000000144   (Journal Full-text)

BACKGROUND: Cytogenetically normal acute myeloid leukemia (AML) represents nearly half of newly diagnosed de novo AML cases. XPD is one of the DNA repair proteins, whose genetic polymorphisms are thought to affect their function as regards response to chemotherapeutic drugs and chemotherapy-induced toxicities. SUBJECTS AND METHODS: We investigated the XPD Asp312Asn and Lys751Gln polymorphisms by polymerase chain reaction-restriction fragment length polymorphism in 51 newly diagnosed cytogenetically normal de novo AML patients. The response to the standard induction chemotherapy protocol and chemotherapy-induced toxicities were monitored. RESULTS: The XPD Asp312Asn GG genotype was the most frequent (57%) followed by the GA variant (37%), and the AA variant was the least frequent (6%). As regards the XPD Lys751Gln polymorphism, the AA genotype was the most frequent (49%), followed by the AC (39%) and CC (12%) variants. These variants were not associated with age, sex, FAB subtype, CNS infiltration, chemotherapy-induced hepatotoxicity, nephrotoxicity, or metabolic toxicity. The XPD Lys751Gln CC polymorphic variant was associated with chemotherapy-induced cardiotoxicity and lower chance to achieve response to induction chemotherapy. CONCLUSION: XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients. Pretreatment assay of XPD Lys751Gln may help to anticipate cardiotoxicity in those at risk. Moreover, it may be considered a prognostic marker in AML cases. However, further large scale research is needed to verify its usefulness.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Anthracycline-induced Cardiotoxicity  IAGP 11252190associated with Leukemia more ...RGD 
Anthracycline-induced Cardiotoxicity  ISOERCC2 (Homo sapiens)11252190; 11252190associated with Leukemia more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)

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

Genes (Homo sapiens)
ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)


Additional Information