Particular aspects of acute leukaemia in children with Down syndrome – caseload analysis of the Paediatric Department of Fundeni Clinical Institute 2010-2018

Introduction. Down syndrome (DS) is an important medical problem because it is one of the most frequent genetic diseases in children despite thorough neonatal screening, with an incidence of approximately 1:10 to 1.000 live births worldwide (1,3,4). An essential aspect is that patients with DS have a 10-15 higher risk than the general paediatric population to develop malignant hemopathy, 20-30% develop acute leukaemia (AL) (5). Recent studies reveal a good response of AL to chemotherapy in patients with DS, mortality is due to multiple complications associated with associated morbidity, which makes the management of these pathologies a real challenge especially in adapting chemotherapy, which has determined the interest for the clinic's caseload analysis. We conducted an 8-year study at the Paediatric Department of Fundeni Clinical Institute of Bucharest, Romania. Objectives. Analysis of the particular diagnostic and therapeutic aspects of patients with DS and acute leukaemia (AL), ALL and AML, on the records of the Paediatric department of Fundeni Clinical Institute during 2010-2018. Material and method. The retrospective, observational, analytical study monitored the cohort from the following points of view: incidence, epidemiology, age at diagnosis, AL type, clinical symptoms at onset, survival rate, overall mortality, treatment related mortality (TRM), identification of relapse and the complex therapeutic attitude of both the underlying pathology and of leukaemia with the assessment of the response rate to chemotherapy. Conclusions. The complex approach of DS-associated hematologic pathology led to an increased percentage of complete remission, 91.6%, without identifying any relapse during the study. Low values of overall survival rate over 8 years and EFS at 3 years = 50% demonstrates an increased mortality rate during the chemotherapy due to the complications generated by this one (TRM 41.6%), which demonstrates the difficulty of managing such a child with two serious diseases, DS and AL. The DS-specific genetic profile produces increased sensitivity to chemotherapy toxicity and multiple organic impairment, which increases the morbidity and mortality rate in these patients, regardless the mortality due to malign hemopathy.