Down syndrome-associated leukaemias: current evidence and challenges-Reference-Cited by-同舟云学术

Down syndrome-associated leukaemias: current evidence and challenges

Published:2024-01 Issue: Volume:15 Page:
ISSN:2040-6207
Container-title:Therapeutic Advances in Hematology
language:en
Short-container-title:Therapeutic Advances in Hematology

Author:

Mason Nicola R.¹^ORCID,Cahill Hilary¹,Diamond Yonatan¹,McCleary Karen¹²,Kotecha Rishi S.³⁴⁵,Marshall Glenn M.⁶,Mateos Marion K.⁷²⁸

Affiliation:

1. Kids Cancer Centre, Sydney Children’s Hospital, Randwick, NSW, Australia

2. School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW, Australia

3. Department of Clinical Haematology, Oncology, Blood and Bone Marrow Transplantation, Perth Children’s Hospital, Perth, WA, Australia

4. Leukaemia Translational Research Laboratory, Telethon Kids Cancer Centre, Telethon Kids Institute, University of Western Australia, Perth, WA, Australia

5. Curtin Medical School, Curtin University, Perth, WA, Australia

6. Kids Cancer Centre, Sydney Children’s Hospital, Randwick, Randwick, NSW, Australia School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW, Australia Children’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia

7. Kids Cancer Centre, Sydney Children’s Hospital, Level 1 South Wing, High Street, Randwick, NSW 2031, Australia

8. Children’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia

Abstract

Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS. GATA-binding protein 1 ( GATA1) somatic mutations are implicated in the development of transient abnormal myelopoiesis and the progression to myeloid leukaemia of DS (ML-DS) and provide a model of the multi-step process of leukaemogenesis in DS. This review summarises key genetic drivers for the development of leukaemia in patients with DS, the biology and treatment of ML-DS and DS-associated acute lymphoblastic leukaemia, late effects of treatments for DS-leukaemias and the focus for future targeted therapy.

Funder

The Kids Cancer Project Col Reynolds Clinical Research Fellowship

Cancer Institute NSW

Publisher

SAGE Publications

Link

https://journals.sagepub.com/doi/pdf/10.1177/20406207241257901

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