Importance of Down syndrome in haematology
Authors:
L. Kolařík 1,2; H. Zůnová 3; H. Kollárová 2
Authors‘ workplace:
Oddělení klinické hematologie, FN Motol, Praha
1; Ústav veřejného zdravotnictví, LF UP, Olomouc
2; Oddělení Lékařské cytogenetiky, Ústav biologie a lékařské genetiky, 2. LF a FN Motol, Praha
3
Published in:
Transfuze Hematol. dnes,28, 2022, No. 2, p. 101-111.
Category:
Original Papers
doi:
https://doi.org/10.48095/cctahd2022prolekare.cz7
Overview
Down syndrome (DS) is one of the most common congenital syndromes in humans. The cause of DS is complete or partial trisomy of chromosome 21. The disease is associated with a typical phenotypic manifestation and a higher risk of health complications, including haemato-oncological diseases. The most serious haematological complications include transient myeloproliferative disease (TMD), myelodysplastic syndrome and acute leukaemia. TMD affects up to 10% of new-borns with DS. While spontaneous remission occurs in most cases, 20–30% of cases develop into acute leukaemia. Acute leukaemia associated with DS is most often of myeloid origin, rarely of lymphoid origin. TMD is not defined by unambiguous morphological criteria and characterised by the transient presence of megakaryocyte lineage blasts in the peripheral blood of children with chromosome 21 trisomy.
Keywords:
leukaemia – Down syndrome – peripheral blood – blastic elements – GATA1 mutation – transient myeloproliferative disease – chromosome 21
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Haematology Internal medicine Clinical oncologyArticle was published in
Transfusion and Haematology Today
2022 Issue 2
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