PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia

Abstract We compared 24 primary pediatric T‐cell acute lymphoblastic leukemias (T‐ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient‐derived xenografts (PDXs). DNA methylation profile was preserved in PDX mice in 97.5% of the promoters (ρ = 0.99). Sim...

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Main Authors: Paulina Richter‐Pechańska, Joachim B Kunz, Beat Bornhauser, Caroline von Knebel Doeberitz, Tobias Rausch, Büşra Erarslan‐Uysal, Yassen Assenov, Viktoras Frismantas, Blerim Marovca, Sebastian M Waszak, Martin Zimmermann, Julia Seemann, Margit Happich, Martin Stanulla, Martin Schrappe, Gunnar Cario, Gabriele Escherich, Kseniya Bakharevich, Renate Kirschner‐Schwabe, Cornelia Eckert, Martina U Muckenthaler, Jan O Korbel, Jean‐Pierre Bourquin, Andreas E Kulozik
Format: Article
Language:English
Published: Springer Nature 2018-11-01
Series:EMBO Molecular Medicine
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Online Access:https://doi.org/10.15252/emmm.201809443
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author Paulina Richter‐Pechańska
Joachim B Kunz
Beat Bornhauser
Caroline von Knebel Doeberitz
Tobias Rausch
Büşra Erarslan‐Uysal
Yassen Assenov
Viktoras Frismantas
Blerim Marovca
Sebastian M Waszak
Martin Zimmermann
Julia Seemann
Margit Happich
Martin Stanulla
Martin Schrappe
Gunnar Cario
Gabriele Escherich
Kseniya Bakharevich
Renate Kirschner‐Schwabe
Cornelia Eckert
Martina U Muckenthaler
Jan O Korbel
Jean‐Pierre Bourquin
Andreas E Kulozik
author_facet Paulina Richter‐Pechańska
Joachim B Kunz
Beat Bornhauser
Caroline von Knebel Doeberitz
Tobias Rausch
Büşra Erarslan‐Uysal
Yassen Assenov
Viktoras Frismantas
Blerim Marovca
Sebastian M Waszak
Martin Zimmermann
Julia Seemann
Margit Happich
Martin Stanulla
Martin Schrappe
Gunnar Cario
Gabriele Escherich
Kseniya Bakharevich
Renate Kirschner‐Schwabe
Cornelia Eckert
Martina U Muckenthaler
Jan O Korbel
Jean‐Pierre Bourquin
Andreas E Kulozik
author_sort Paulina Richter‐Pechańska
collection DOAJ
description Abstract We compared 24 primary pediatric T‐cell acute lymphoblastic leukemias (T‐ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient‐derived xenografts (PDXs). DNA methylation profile was preserved in PDX mice in 97.5% of the promoters (ρ = 0.99). Similarly, the genome‐wide chromatin accessibility (ATAC‐Seq) was preserved remarkably well (ρ = 0.96). Interestingly, both the ATAC regions, which showed a significant decrease in accessibility in PDXs and the regions hypermethylated in PDXs, were associated with immune response, which might reflect the immune deficiency of the mice and potentially the incomplete interaction between murine cytokines and human receptors. The longitudinal approach of this study allowed an observation that samples collected from patients who developed a type 1 relapse (clonal mutations maintained at relapse) preserved their genomic composition; whereas in patients who developed a type 2 relapse (subset of clonal mutations lost at relapse), the preservation of the leukemia's composition was more variable. In sum, this study underlines the remarkable genomic stability, and for the first time documents the preservation of the epigenomic landscape in T‐ALL‐derived PDX models.
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spelling doaj-art-a41b214baa0c4e7083befa1edbc532892025-08-20T04:03:02ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842018-11-01101211310.15252/emmm.201809443PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemiaPaulina Richter‐Pechańska0Joachim B Kunz1Beat Bornhauser2Caroline von Knebel Doeberitz3Tobias Rausch4Büşra Erarslan‐Uysal5Yassen Assenov6Viktoras Frismantas7Blerim Marovca8Sebastian M Waszak9Martin Zimmermann10Julia Seemann11Margit Happich12Martin Stanulla13Martin Schrappe14Gunnar Cario15Gabriele Escherich16Kseniya Bakharevich17Renate Kirschner‐Schwabe18Cornelia Eckert19Martina U Muckenthaler20Jan O Korbel21Jean‐Pierre Bourquin22Andreas E Kulozik23Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergDivision of Pediatric Oncology, University Children's HospitalDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergMolecular Medicine Partnership Unit (MMPU), European Molecular Biology Laboratory (EMBL), University of HeidelbergDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergDivision of Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ)Division of Pediatric Oncology, University Children's HospitalDivision of Pediatric Oncology, University Children's HospitalEuropean Molecular Biology Laboratory (EMBL)Department of Pediatric Hematology and Oncology, Hannover Medical SchoolDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergDepartment of Pediatric Hematology and Oncology, Hannover Medical SchoolDepartment of Pediatrics, University Hospital Schleswig‐HolsteinDepartment of Pediatrics, University Hospital Schleswig‐HolsteinClinic of Pediatric Hematology and Oncology, University Medical Center Hamburg‐EppendorfClinic of Pediatric Hematology and Oncology, University Medical Center Hamburg‐EppendorfDepartment of Pediatric Oncology/Hematology, Charité Universitätsmedizin BerlinDepartment of Pediatric Oncology/Hematology, Charité Universitätsmedizin BerlinDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergMolecular Medicine Partnership Unit (MMPU), European Molecular Biology Laboratory (EMBL), University of HeidelbergDivision of Pediatric Oncology, University Children's HospitalDepartment of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, and Hopp Children's Cancer Center at NCT HeidelbergAbstract We compared 24 primary pediatric T‐cell acute lymphoblastic leukemias (T‐ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient‐derived xenografts (PDXs). DNA methylation profile was preserved in PDX mice in 97.5% of the promoters (ρ = 0.99). Similarly, the genome‐wide chromatin accessibility (ATAC‐Seq) was preserved remarkably well (ρ = 0.96). Interestingly, both the ATAC regions, which showed a significant decrease in accessibility in PDXs and the regions hypermethylated in PDXs, were associated with immune response, which might reflect the immune deficiency of the mice and potentially the incomplete interaction between murine cytokines and human receptors. The longitudinal approach of this study allowed an observation that samples collected from patients who developed a type 1 relapse (clonal mutations maintained at relapse) preserved their genomic composition; whereas in patients who developed a type 2 relapse (subset of clonal mutations lost at relapse), the preservation of the leukemia's composition was more variable. In sum, this study underlines the remarkable genomic stability, and for the first time documents the preservation of the epigenomic landscape in T‐ALL‐derived PDX models.https://doi.org/10.15252/emmm.201809443ATAC‐SeqPDX stabilityT‐ALLT‐cell leukemia
spellingShingle Paulina Richter‐Pechańska
Joachim B Kunz
Beat Bornhauser
Caroline von Knebel Doeberitz
Tobias Rausch
Büşra Erarslan‐Uysal
Yassen Assenov
Viktoras Frismantas
Blerim Marovca
Sebastian M Waszak
Martin Zimmermann
Julia Seemann
Margit Happich
Martin Stanulla
Martin Schrappe
Gunnar Cario
Gabriele Escherich
Kseniya Bakharevich
Renate Kirschner‐Schwabe
Cornelia Eckert
Martina U Muckenthaler
Jan O Korbel
Jean‐Pierre Bourquin
Andreas E Kulozik
PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
EMBO Molecular Medicine
ATAC‐Seq
PDX stability
T‐ALL
T‐cell leukemia
title PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
title_full PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
title_fullStr PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
title_full_unstemmed PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
title_short PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
title_sort pdx models recapitulate the genetic and epigenetic landscape of pediatric t cell leukemia
topic ATAC‐Seq
PDX stability
T‐ALL
T‐cell leukemia
url https://doi.org/10.15252/emmm.201809443
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