Down syndrome and leukemia: from basic mechanisms to clinical advances
André Baruchel,
Jean-Pierre Bourquin,
John Crispino,
Sergi Cuartero,
Henrik Hasle,
Johann Hitzler,
Jan-Henning Klusmann,
Shai Izraeli,
Andrew A. Lane,
Sébastien Malinge,
Karen R. Rabin,
Irene Roberts,
Sandra Ryeom,
Sarah K. Tasian,
Elvin Wagenblast
Affiliations
André Baruchel
Hôpital Universitaire Robert Debré (APHP and Université Paris Cité), Paris
Jean-Pierre Bourquin
University Children’s Hospital, Zurich
John Crispino
St. Jude Children’s Research Hospital, Memphis, TN
Sergi Cuartero
Josep Carreras Leukemia Research Institute, Barcelona
Henrik Hasle
Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark
Johann Hitzler
The Hospital for Sick Children, Toronto
Jan-Henning Klusmann
Department of Pediatrics, Goethe University Frankfurt, Frankfurt
Shai Izraeli
Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Dept. of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Aviv University
Andrew A. Lane
Dana-Farber Cancer Institute, Boston, MA
Sébastien Malinge
Telethon Kids Institute - Cancer Centre, Perth
Karen R. Rabin
Baylor College of Medicine, Texas Children's Cancer Center, Houston, TX
Irene Roberts
University of Oxford, Oxford
Sandra Ryeom
Department of Surgery, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY
Sarah K. Tasian
Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA
Elvin Wagenblast
Icahn School of Medicine at Mount Sinai, New York, NY; USA
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21 and leukemia initiation and progression have been conducted over the last two decades. Despite improved treatment regimens and significant progress in iden - tifying genes on chromosome 21 and the mechanisms by which they drive leukemogenesis, there is still much that is unknown. A focused group of scientists and clinicians with expertise in leukemia and DS met in October 2022 at the Jérôme Lejeune Foundation in Paris, France for the 1st International Symposium on Down Syndrome and Leukemia. This meeting was held to discuss the most recent advances in treatment regimens and the biology underlying the initiation, progression, and relapse of acute lymphoblastic leukemia and acute myeloid leukemia in children with DS. This review provides a summary of what is known in the field, challenges in the management of DS patients with leukemia, and key questions in the field.