Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.


Journal

Journal of experimental & clinical cancer research : CR
ISSN: 1756-9966
Titre abrégé: J Exp Clin Cancer Res
Pays: England
ID NLM: 8308647

Informations de publication

Date de publication:
13 Jan 2023
Historique:
received: 07 12 2022
accepted: 26 12 2022
entrez: 13 1 2023
pubmed: 14 1 2023
medline: 18 1 2023
Statut: epublish

Résumé

Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze the impact of therapy-related hyperbilirubinemia on treatment outcome and to identify contributing genetic risk factors of this well-recognized adverse effect we evaluated serum bilirubin levels in 1547 pediatric patients with acute lymphoblastic leukemia (ALL) and conducted a genome-wide association study (GWAS). Patients were treated in multicenter trial AIEOP-BFM ALL 2000 for pediatric ALL. Bilirubin toxicity was graded 0 to 4 according to the Common Toxicity Criteria (CTC) of the National Cancer Institute. In the GWAS discovery cohort, including 650 of the 1547 individuals, genotype frequencies of 745,895 single nucleotide variants were compared between 435 patients with hyperbilirubinemia (CTC grades 1-4) during induction/consolidation treatment and 215 patients without it (grade 0). Replication analyses included 224 patients from the same trial. Compared to patients with no (grade 0) or moderate hyperbilirubinemia (grades 1-2) during induction/consolidation, patients with grades 3-4 had a poorer 5-year event free survival (76.6 ± 3% versus 87.7 ± 1% for grades 1-2, P = 0.003; 85.2 ± 2% for grade 0, P < 0.001) and a higher cumulative incidence of relapse (15.6 ± 3% versus 9.0 ± 1% for grades 1-2, P = 0.08; 11.1 ± 1% for grade 0, P = 0.007). GWAS identified a strong association of the rs6744284 variant T allele in the UGT1A gene cluster with risk of hyperbilirubinemia (allelic odds ratio (OR) = 2.1, P = 7 × 10 Chemotherapy-related hyperbilirubinemia is a prognostic factor for treatment outcome in pediatric ALL and genetic variation in UGT1A aids in predicting the clinical impact of hyperbilirubinemia. http://www. gov ; #NCT00430118.

Sections du résumé

BACKGROUND BACKGROUND
Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze the impact of therapy-related hyperbilirubinemia on treatment outcome and to identify contributing genetic risk factors of this well-recognized adverse effect we evaluated serum bilirubin levels in 1547 pediatric patients with acute lymphoblastic leukemia (ALL) and conducted a genome-wide association study (GWAS).
PATIENTS AND METHODS METHODS
Patients were treated in multicenter trial AIEOP-BFM ALL 2000 for pediatric ALL. Bilirubin toxicity was graded 0 to 4 according to the Common Toxicity Criteria (CTC) of the National Cancer Institute. In the GWAS discovery cohort, including 650 of the 1547 individuals, genotype frequencies of 745,895 single nucleotide variants were compared between 435 patients with hyperbilirubinemia (CTC grades 1-4) during induction/consolidation treatment and 215 patients without it (grade 0). Replication analyses included 224 patients from the same trial.
RESULTS RESULTS
Compared to patients with no (grade 0) or moderate hyperbilirubinemia (grades 1-2) during induction/consolidation, patients with grades 3-4 had a poorer 5-year event free survival (76.6 ± 3% versus 87.7 ± 1% for grades 1-2, P = 0.003; 85.2 ± 2% for grade 0, P < 0.001) and a higher cumulative incidence of relapse (15.6 ± 3% versus 9.0 ± 1% for grades 1-2, P = 0.08; 11.1 ± 1% for grade 0, P = 0.007). GWAS identified a strong association of the rs6744284 variant T allele in the UGT1A gene cluster with risk of hyperbilirubinemia (allelic odds ratio (OR) = 2.1, P = 7 × 10
CONCLUSIONS CONCLUSIONS
Chemotherapy-related hyperbilirubinemia is a prognostic factor for treatment outcome in pediatric ALL and genetic variation in UGT1A aids in predicting the clinical impact of hyperbilirubinemia.
TRIAL REGISTRATION BACKGROUND
http://www.
CLINICALTRIALS RESULTS
gov ; #NCT00430118.

Identifiants

pubmed: 36639636
doi: 10.1186/s13046-022-02585-x
pii: 10.1186/s13046-022-02585-x
pmc: PMC9838013
doi:

Substances chimiques

Bilirubin RFM9X3LJ49

Banques de données

ClinicalTrials.gov
['NCT00430118']

Types de publication

Multicenter Study Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

21

Informations de copyright

© 2023. The Author(s).

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Auteurs

Stefanie V Junk (SV)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Elke Schaeffeler (E)

Margarete-Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.

Martin Zimmermann (M)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Anja Möricke (A)

Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.

Rita Beier (R)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Peter Schütte (P)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Birthe Fedders (B)

Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.

Julia Alten (J)

Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.

Laura Hinze (L)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Norman Klein (N)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Andreas Kulozik (A)

Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany.

Martina U Muckenthaler (MU)

Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany.

Rolf Koehler (R)

Department of Human Genetics, University of Heidelberg, Heidelberg, Germany.

Arndt Borkhardt (A)

Clinic for Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.

Jayaram Vijayakrishnan (J)

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, UK.

David Ellinghaus (D)

Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.

Michael Forster (M)

Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.

Andre Franke (A)

Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.

Astrid Wintering (A)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Christian P Kratz (CP)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Martin Schrappe (M)

Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.

Matthias Schwab (M)

Margarete-Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
Departments of Clinical Pharmacology, and of Biochemistry and Pharmacy, University of Tuebingen, Tuebingen, Germany.
Cluster of Excellence iFIT (EXC 2180) "Image-Guided and Functionally Instructed Tumor Therapies", University of Tuebingen, Tuebingen, Germany.
German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ) Partner Site Tübingen, Tübingen, Germany.

Richard S Houlston (RS)

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, UK.

Gunnar Cario (G)

Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.

Martin Stanulla (M)

Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. stanulla.martin@mh-hannover.de.

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