OnkoSight Advanced^TM Virtual Karyotyping in CLL and Plasma Cell Myeloma

OnkoSight Advanced NGS panels for Chronic Lymphoid Neoplasms and Plasma Cell Myeloma offer enhanced capabilities, enabling simultaneous detection of somatic gene mutations and genome-wide copy number alterations (CNAs), ranging from single-gene changes to entire chromosome aberrations.

Copy number alterations (CNAs) are a structural genetic variation (>50 bp) that involves a gain or loss of DNA segments.

• Approximately 80% of chronic lymphocytic leukemia (CLL) carries somatically acquired recurrent genomic copy number aberrations, including gains of entire chromosomes (e.g., trisomy 12) and losses of various lengths at 13q14 (RB1), 11q (ATM), and 17p (TP53).
• Multiple myeloma is characterized by high genetic heterogeneity. Development of chromosomal hyperdiploidy can be observed in up to half of patients with multiple myeloma and is considered a favorable prognostic factor.

CNA assessments are included in OnkoSight Advanced CLL and multiple myeloma panels [Fig.1]*.  This important feature can inform the presence of large-scale, whole chromosome, chromosome arm, large deletion, or large gain in a sample. Traditionally, such analysis has been restricted to fluorescent in-situ hybridization (FISH), chromosomal metaphase karyotyping, and microarray.

In some instances, a normal cytogenetic result in lymphoid neoplasms, such as CLL/SLL and MM, maybe a false-negative due to lack of clonal growth of neoplastic cells. Adding CNA information alongside SNV analysis enables the detection of chromosomal gains and losses that enhance diagnostic accuracy, prognostic assessments, and therapeutic stratification in CLL and MM cases, empowering healthcare professionals to make informed decisions.

Fig.1 Genome-Wide Distribution of CNV and SNV

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