1. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update
- Author
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Laure Nizery, Oliver Tunstall, Irene Roberts, Paresh Vyas, and Neha Bhatnagar
- Subjects
0301 basic medicine ,Risk ,Cancer Research ,Down syndrome ,medicine.medical_specialty ,Spontaneous remission ,Acute leukaemia ,Leukemoid Reaction ,03 medical and health sciences ,0302 clinical medicine ,Myeloproliferative Disorders ,Transient abnormal myelopoiesis ,stomatognathic system ,Internal medicine ,Medicine ,Humans ,GATA1 Transcription Factor ,Hematology ,business.industry ,Myeloproliferative Disorders (C Harrison, Section Editor) ,GATA1 ,medicine.disease ,Myeloproliferative disorders ,Haematopoiesis ,Leukemia, Myeloid, Acute ,030104 developmental biology ,Oncology ,030220 oncology & carcinogenesis ,Immunology ,business ,Leukemoid reaction ,Trisomy ,Stem Cell Transplantation - Abstract
Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially 'silent'. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here.
- Published
- 2016