The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia

YL Behrens, S Pietzsch, Ž Antić, Y Zhang… - Best Practice & …, 2024 - Elsevier
Improvements made during the last decades in the management of patients with
hematologic neoplasia have resulted in increase of overall survival. These advancements …

[HTML][HTML] Comparison of optical genome mapping with conventional diagnostic methods for structural variant detection in hematologic malignancies

Y Shim, YK Koo, S Shin, ST Lee, KA Lee… - Annals of laboratory …, 2024 - ncbi.nlm.nih.gov
Background Structural variants (SVs) are currently analyzed using a combination of
conventional methods; however, this approach has limitations. Optical genome mapping …

Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco

H Skhoun, M El Fessikh, MEA Al Abdallaoui… - Archives de …, 2024 - Elsevier
Background Recurrent genetic abnormalities affecting pivotal signaling pathways are the
hallmark of childhood acute lymphoblastic leukemia (ALL). The identification of these …

[HTML][HTML] Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants

L Zipper, R Wagener, U Fischer, A Hoffmann… - …, 2024 - ncbi.nlm.nih.gov
First described in 1967, hyperdiploidy (HD) is the most frequent genetic abnormality in B‐
cell‐precursor leukemia (BCP‐ALL) in children, comprising about 25% of all cases. A not yet …

Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases

M Naik, N Ojha, T Sahoo, A Panchal, Y Naik, R Arora… - 2024 - preprints.org
Structural variations (SVs) play a key role in the pathogenicity of hematological
malignancies. Optical genome mapping (OGM) is an emerging technology that enables …