Onkologie. 2023:17(5):308-311 | DOI: 10.36290/xon.2023.057

Transient abnormal myelopoesis and acute leukemia in children with Down syndrome

Danica Zapletalová, Martin Baláž, Hana Bernatíková, Terézia Tureková

Klinika dětské onkologie, Fakultní nemocnice a Lékařská fakulta Masarykovy univerzity, Brno

Down syndrome is one of the best known and most common chromosomal aberrations. The presence of excess genetic material of chromosome 21 causes multiorgan impairment. From an oncological point of view, the predisposition of these individuals to hematological malignancies in childhood is especially important. Trisomy of chromosome 21 itself leads to perturbed hematopoiesis and it is the first step in the development of transient abnormal myelopoesis, a unique clonal disease that occurs only in the presence of trisomy of chromosome 21. It is a preleukemic phase with variable clinical manifestations from a completely asymptomatic course to a life-threatening condition, with ability of spontaneous regression but also transformation into myeloid leukemia. The prognosis of these children is very good with reduced chemotherapy regimens respecting their increased sensitivity to the toxicity of the treatment. Acute lymphoblastic leukemia associated with Down syndrome, on the other hand, is a heterogeneous disease with not really elucidated etiopathogenesis and a worse prognosis compared to pediatric patients with the same diagnosis but without the presence of Down syndrome.

Keywords: Down syndrome, transient abnormal myelopoesis, myeloid leukemia, acute lymphoblastic leukemia, GATA1 mutation.

Accepted: November 28, 2023; Published: November 29, 2023  Show citation