Genetic aberrations in paediatric acute leukaemias and implications for management of patients

T Szczepański, CJ Harrison, JJM van Dongen - The lancet oncology, 2010 - thelancet.com
The process of malignant transformation in paediatric acute leukaemias is complex,
requiring at least two deleterious events resulting in DNA damage. This damage ranges …

The role of chromosome 21 in hematology and oncology

C Fonatsch - Genes, Chromosomes and Cancer, 2010 - Wiley Online Library
Newborns and children with Down syndrome (DS) often present with congenital transient
leukemia and have an increased risk of acute myeloid leukemia and acute lymphoblastic …

NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern

IHIM Hollink… - Blood, The Journal …, 2011 - ashpublications.org
Translocations involving nucleoporin 98kD (NUP98) on chromosome 11p15 occur at
relatively low frequency in acute myeloid leukemia (AML) but can be missed with routine …

[图书][B] Leukaemia diagnosis

BJ Bain - 2017 - books.google.com
From the bestselling author, Barbara J. Bain, the new edition of this practical reference on
the principles of leukaemia diagnosis and classification has been fully updated, and …

[HTML][HTML] Generation and proof-of-concept for allogeneic CD123 CAR-Delta One T (DOT) cells in acute myeloid leukemia

DS Martínez, N Tirado, S Mensurado… - … for Immunotherapy of …, 2022 - ncbi.nlm.nih.gov
Background Chimeric antigen receptor (CAR)-T cells have emerged as a breakthrough
treatment for relapse/refractory hematological tumors, showing impressive complete …

Recurrent cytogenetic abnormalities in acute myeloid leukemia

JJ Yang, TS Park, TSK Wan - Cancer Cytogenetics: Methods and Protocols, 2017 - Springer
The spectrum of chromosomal abnormality associated with leukemogenesis of acute
myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid …

[HTML][HTML] Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

R Hochstenbach, T Liehr, RJ Hastings - European Journal of Human …, 2021 - nature.com
Participation of clinical genetic laboratories in External Quality Assessment schemes (EQAs)
is a powerful method to ascertain if any improvement or additional training is required in the …

Germinal and somatic trisomy 21 mosaicism: how common is it, what are the implications for individual carriers and how does it come about?

MA Hultén, J Jonasson, A Nordgren… - Current …, 2010 - ingentaconnect.com
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of
normal and Trisomy 21 cells within individual tissues, may exist in the human population …

[HTML][HTML] Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del (5q) myelodysplastic syndromes

M Fernandez-Mercado, A Burns, A Pellagatti… - …, 2013 - ncbi.nlm.nih.gov
Interstitial deletion of chromosome 5q is the most common chromosomal abnormality in
myelodysplastic syndromes. The catalogue of genes involved in the molecular pathogenesis …

Disease‐associated patterns of disomic chromosomes in hyperhaploid neoplasms

N Mandahl, B Johansson, F Mertens… - Genes, Chromosomes …, 2012 - Wiley Online Library
The chromosome number of human tumors varies widely, from near‐haploidy to more than
decaploidy. Overt hyperhaploid (24–34 chromosomes) tumors constitute a small minority …