The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)

F Nguyen-Khac, A Bidet, A Daudignon… - Leukemia, 2022 - nature.com
Karyotype complexity has major prognostic value in many malignancies. There is no
consensus on the definition of a complex karyotype, and the prognostic impact of karyotype …

[HTML][HTML] High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and …

H Yang, G Garcia-Manero, K Sasaki… - Leukemia, 2022 - nature.com
Chromosome banding analysis (CBA) remains the standard-of-care for structural variant
(SV) assessment in MDS. Optical genome mapping (OGM) is a novel, non-sequencing …

[HTML][HTML] Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA

N Coccaro, L Anelli, A Zagaria, F Tarantini, C Cumbo… - Diagnostics, 2023 - mdpi.com
Optical genome mapping (OGM) is a new genome-wide technology that can reveal both
structural genomic variations (SVs) and copy number variations (CNVs) in a single assay …

Guiding the global evolution of cytogenetic testing for hematologic malignancies

YMN Akkari, LB Baughn, AM Dubuc… - Blood, The Journal …, 2022 - ashpublications.org
Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …

[HTML][HTML] Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multicenter study

AC Leeksma, P Baliakas, T Moysiadis, A Puiggros… - …, 2021 - ncbi.nlm.nih.gov
Complex karyotype identified by chromosome-banding analysis has been shown to have
prognostic value in chronic lymphocytic leukemia (CLL). Genomic arrays offer high …

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of …

L Shao, Y Akkari, LD Cooley, DT Miller, BA Seifert… - Genetics in …, 2021 - nature.com
Chromosomal microarray technologies, including array comparative genomic hybridization
and single-nucleotide polymorphism array, are widely applied in the diagnostic evaluation …

[HTML][HTML] Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic …

FM Mikhail, JA Biegel, LD Cooley, AM Dubuc… - Genetics in …, 2019 - Elsevier
The detection of acquired copy-number abnormalities (CNAs) and copy-neutral loss of
heterozygosity (CN-LOH) in neoplastic disorders by chromosomal microarray analysis …

[HTML][HTML] Genetic aspects of myelodysplastic/myeloproliferative neoplasms

L Palomo, P Acha, F Solé - Cancers, 2021 - mdpi.com
Simple Summary Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal
myeloid neoplasms characterized, at the time of their presentation, by the simultaneous …

Application of optical genome mapping for comprehensive assessment of chromosomal structural variants for clinical evaluation of myelodysplastic syndromes

H Yang, G Garcia-Manero, D Rush, G Montalban-Bravo… - medRxiv, 2021 - medrxiv.org
Structural chromosomal variants [copy number variants (CNVs): losses/gains and structural
variants (SVs): inversions, balanced and unbalanced fusions/translocations] are important …

The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure

S Keel, A Geddis - Hematology, 2021 - ashpublications.org
The overlap in clinical presentation and bone marrow features of acquired and inherited
causes of hypocellular marrow failure poses a significant diagnostic challenge in real case …