Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge

Julie Quessada (1) , Wendy Cuccuini (2, 3) , Paul Saultier (1, 4) , Marie Loosveld (5, 6) , Christine Harrison (7) , Marina Lafage-Pochitaloff (1)

1 Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM]
2 AP-HP - Hopital Saint-Louis [AP-HP]
3 GFCH - Groupe francophone cytogenet hemato GFCH
4 C2VN - Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research
5 CIML - Centre d'Immunologie de Marseille - Luminy
6 TIMONE - Hôpital de la Timone [CHU - APHM]
7 Newcastle University [Newcastle]

Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to morphology, immunophenotyping, germline and somatic cytogenetic and genetic abnormalities. Over recent decades, outcomes have greatly improved, although survival rates remain around 70% and the relapse rate is high, at around 30%. Cytogenetics is an important factor for diagnosis and indication of prognosis. The main cytogenetic abnormalities are referenced in the current WHO classification of acute myeloid leukemia, where there is an indication for risk-adapted therapy. The aim of this article is to provide an updated review of cytogenetics in pediatric AML, describing well-known WHO entities, as well as new subgroups and germline mutations with therapeutic implications. We describe the main chromosomal abnormalities, their frequency according to age and AML subtypes, and their prognostic relevance within current therapeutic protocols. We focus on de novo AML and on cytogenetic diagnosis, including the practical difficulties encountered, based on the most recent hematological and cytogenetic recommendations.

Mots clés: cytogenetics; pediatrics; acute myeloid leukemia; genomics; risk-adapted therapy; therapeutic trials; children hematological; malignancies; karyotype; FISH; acute megakaryoblastic leukemiainfant leukemia

Domaines: Sciences du Vivant [q-bio]

Julie Quessada, Wendy Cuccuini, Paul Saultier, Marie Loosveld, Christine Harrison, et al.. Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge. Genes, 2021, 12 (6), pp.924. ⟨10.3390/genes12060924⟩. ⟨hal-03374740⟩