PAX5::AUTS2 childhood B-ALL: a relapse-prone genetic subtype with frequent central nervous system involvement and a poor outcome

Aurélie Caye-Eude; Grazia Fazio; Agata Pastorczak; Judith M Boer; Doris Steinemann; Debdutta Ganguli; Edwin Sonneveld; Sabrina Haslinger; Lucía D'Andrea; Jutta Bradtke; Bruno A Lopes; Marketa Zaliova; Gabriele Escherich; Margit König; Klaus Fortschegger; Andrea Inthal; Irina Stasevich; Mariana Emerenciano; Jan Trka; Luis Castillo; Mayur Parihar; Anthony V Moorman; Anke K Bergmann; Monique L den Boer; Wojciech Młynarski; Giovanni Cazzaniga; Hélène Cavé; Karin Nebral; Dagmar Schinnerl; Sabine Strehl

doi:10.1038/s41375-024-02502-5

PAX5::AUTS2 childhood B-ALL: a relapse-prone genetic subtype with frequent central nervous system involvement and a poor outcome

Leukemia. 2025 Feb;39(2):482-486. doi: 10.1038/s41375-024-02502-5. Epub 2024 Dec 19.

Authors

Aurélie Caye-Eude^{1

2}, Grazia Fazio^{3

4}, Agata Pastorczak⁵, Judith M Boer⁶, Doris Steinemann⁷, Debdutta Ganguli⁸, Edwin Sonneveld^{6

9}, Sabrina Haslinger^{10

11}, Lucía D'Andrea¹², Jutta Bradtke¹³, Bruno A Lopes¹⁴, Marketa Zaliova^{15

16

17}, Gabriele Escherich¹⁸, Margit König^{10

11}, Klaus Fortschegger¹⁰, Andrea Inthal^{10

11}, Irina Stasevich¹⁹, Mariana Emerenciano²⁰, Jan Trka^{15

16

17}, Luis Castillo¹², Mayur Parihar²¹, Anthony V Moorman²², Anke K Bergmann⁷, Monique L den Boer⁶, Wojciech Młynarski²³, Giovanni Cazzaniga^{3

4}, Hélène Cavé^{1

2}, Karin Nebral^{10

11}, Dagmar Schinnerl¹⁰, Sabine Strehl²⁴

Affiliations

¹ Department of Genetics, University Hospital Robert Debré, Paris, France.
² INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris, France.
³ Tettamanti Center, Fondazione IRCCS, San Gerardo dei Tintori, Monza, Italy.
⁴ School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
⁵ Department of Genetic Predisposition to Cancer, Medical University of Łódź, Łódź, Poland.
⁶ Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
⁷ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
⁸ Administrative-Lead Genomics, Tata Translational Cancer Research Center/Tata Medical Center, Kolkata, India.
⁹ Dutch Childhood Oncology Group (DCOG), Utrecht, The Netherlands.
¹⁰ St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
¹¹ Labdia Labordiagnostik, Vienna, Austria.
¹² Department of Pediatric Hematology and Oncology, Hospital Pereira Rossell, Pérez Scremini Foundation, Montevideo, Uruguay.
¹³ Universitätsklinikum Gießen und Marburg, Institut für Pathologie, Onkogenetisches Labor Molekularpathologie, Gießen, Germany.
¹⁴ Leukemia DataLab, Instituto Nacional de Câncer-INCA, Rio de Janeiro, Brazil.
¹⁵ CLIP (Childhood Leukaemia Investigation Prague), Prague, Czech Republic.
¹⁶ Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University, Prague, Czech Republic.
¹⁷ University Hospital Motol, Prague, Czech Republic.
¹⁸ University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹⁹ NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
²⁰ Genetics of Acute Leukaemia Laboratory-GenLAb, Instituto Nacional de Câncer-INCA, Rio de Janeiro, Brazil.
²¹ Department of Laboratory Haematology and Cytogenetics, Tata Medical Centre, Kolkata, India.
²² Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK.
²³ Department of Pediatrics, Oncology and Hematology, Medical University of Łódź, Łódź, Poland.
²⁴ St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria. sabine.strehl@ccri.at.

PAX5::AUTS2 childhood B-ALL: a relapse-prone genetic subtype with frequent central nervous system involvement and a poor outcome

Authors

Affiliations

Abstract

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