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 …

Next-generation sequencing for clinical management of multiple myeloma: ready for prime time?

N Bolli, E Genuardi, B Ziccheddu, M Martello… - Frontiers in …, 2020 - frontiersin.org
Personalized treatment is an attractive strategy that promises increased efficacy with
reduced side effects in cancer. The feasibility of such an approach has been greatly boosted …

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 …

[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 …

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 …

Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma

J Smadbeck, JF Peterson, KE Pearce, BA Pitel… - Blood cancer …, 2019 - nature.com
Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect
recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since …

Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment

JJ Kim, SJ Kim, S Lim, ST Lee, JR Choi, S Shin… - Cancer Cell …, 2024 - Springer
Background Risk stratification in multiple myeloma (MM) patients is crucial, and molecular
genetic studies play a significant role in achieving this objective. Enrichment of plasma cells …

Section E6. 1–6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired …

Y Akkari, LB Baughn, A Kim, E Karaca, G Raca… - Genetics in …, 2024 - Elsevier
Cytogenomic analyses of acquired clonal chromosomal abnormalities in neoplastic blood,
bone marrow, and/or lymph nodes are instrumental in the clinical management of patients …

Superior detection rate of plasma cell FISH using FACS-FISH

MF Gagnon, SM Midthun, JA Fangel… - American journal of …, 2024 - academic.oup.com
Objectives Fluorescence in situ hybridization (FISH) for plasma cell neoplasms (PCNs)
requires plasma cell (PC) identification or purification strategies to optimize results. We …