A summary of the inaugural WHO classification of pediatric tumors: transitioning from the optical into the molecular era

SM Pfister, M Reyes-Múgica, JKC Chan, H Hasle… - Cancer discovery, 2022 - AACR
Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Cytogenetics of pediatric acute myeloid leukemia: a review of the current knowledge

J Quessada, W Cuccuini, P Saultier, M Loosveld… - Genes, 2021 - mdpi.com
Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to
morphology, immunophenotyping, germline and somatic cytogenetic and genetic …

Recent advances and applications of CRISPR-Cas9 in cancer immunotherapy

Z Liu, M Shi, Y Ren, H Xu, S Weng, W Ning, X Ge… - Molecular Cancer, 2023 - Springer
The incidence and mortality of cancer are the major health issue worldwide. Apart from the
treatments developed to date, the unsatisfactory therapeutic effects of cancers have not …

Clinical and biological aspects of myeloid leukemia in Down syndrome

AC Boucher, KJ Caldwell, JD Crispino, JE Flerlage - Leukemia, 2021 - nature.com
Children with Down syndrome are at an elevated risk of leukemia, especially myeloid
leukemia (ML-DS). This malignancy is frequently preceded by transient abnormal …

The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis

IS Muskens, S Li, T Jackson, N Elliot… - Nature …, 2021 - nature.com
Down syndrome is associated with genome-wide perturbation of gene expression, which
may be mediated by epigenetic changes. We perform an epigenome-wide association study …

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

B Arkoun, E Robert, F Boudia, S Mazzi… - The Journal of …, 2023 - Am Soc Clin Investig
Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal
evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy …

Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome

AP Laurent, RS Kotecha, S Malinge - Leukemia, 2020 - nature.com
Structural and numerical alterations of chromosome 21 are extremely common in
hematological malignancies. While the functional impact of chimeric transcripts from fused …

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

RR West, KR Calvo, LJ Embree, W Wang… - Blood …, 2022 - ashpublications.org
Patients with GATA2 deficiencyharbor de novo or inherited germline mutations in the GATA2
transcription factor gene, predisposing them to myeloid malignancies. There is considerable …

Inherent genome instability underlies trisomy 21-associated myeloid malignancies

CC Chen, RE Silberman, D Ma, JA Perry, D Khalid… - Leukemia, 2024 - nature.com
Abstract Constitutional trisomy 21 (T21) is a state of aneuploidy associated with high
incidence of childhood acute myeloid leukemia (AML). T21-associated AML is preceded by …

Mapping the cellular origin and early evolution of leukemia in Down syndrome

E Wagenblast, J Araújo, OI Gan, SK Cutting, A Murison… - Science, 2021 - science.org
INTRODUCTION Leukemia is the most common cancer in children, with the first genetic
alterations often occurring during fetal development. These initiating events generate …