A retrospective study of myeloid leukaemia in children with Down syndrome in Ireland

• DOI: 10.1007/s11845-020-02181-y
• Publication Date: 2020-02-01T00:00:15Z
• Authors: Gavin P. Dowling; Andrea Piccin; Katherine T. Gavin; David R Betts; Andrea Malone; Melanie Cotter; Aoife Sills; Pamela Evans; Aengus O’ Marcaigh; Owen P. Smith
• Keywords: Male; 0301 basic medicine; Infant, Newborn; Infant; 3. Good health; 03 medical and health sciences; Leukemia, Myeloid; Child, Preschool; Humans; Female; Down Syndrome; Ireland; Retrospective Studies

Acute megakaryoblastic leukaemia (AMKL) is a subtype of myeloid leukaemia and is the most common leukaemia type in children with Down syndrome (DS) under 4 years of age. AMKL is often preceded by a transient neonatal pre-leukaemic syndrome, transient myeloproliferative disorder (TMD). Although TMD often spontaneously resolves, 20-30% of these patients subsequently develop AMKL within the first 4 years of life.To perform a retrospective consecutive national audit of all documented cases of childhood TMD and AMKL-DS from 1990 to 2018 at Our Lady's Children's Hospital, Crumlin (OLCHC), Ireland.All patients with a diagnosis of AMKL treated consecutively at (OLCHC) between 1990 and 2018 were reviewed. Kaplan-Meier survival curves were constructed.Twenty-seven patients with AMKL-DS were identified. A prior neonatal diagnosis of TMD was described in 10 patients (37%). Nineteen patients (70%) are alive and well, in complete remission, at a median follow-up of 11.4 years. Overall survival (OS) of this cohort has risen from 54% from those treated between the years 1990 and 2004 (n = 13) to 93% for those treated between the years 2005 and 2018 (n = 14).High cure rates are observed in AMKL-DS using current polychemotherapy protocols. The finding of a low platelet count at time of diagnosis is in keeping with the knowledge that AMKL-DS is a malignancy of platelet progenitor cells.