Semi-Automated Interphase FISH (iFISH) Spot Scoring in CD138-Positive Cells: Validation Study for Genetic Abnormalities Detection in Multiple Myeloma.

Borri, Daniela, Lin, Chin Jia, Camillo, Victor, Kishimoto, Renata K., Santos, Mauren F. M., Safranauskas, Roberta M., Cordeiro, Maria G., Silva, Jason de L., Coimbra, Amanda A. C., Silva, Gilmara de S. E., Cervato, Murilo C., Velloso, Elvira D. R. P.

<p>We conducted a study to validate the automated scoring of Fluorescent in Situ Hybridization (FISH) in a routine cytogenetics laboratory using selected CD138-positive cells in samples from patients with multiple myeloma. A workstation was optimized based on the manufacturer's configurations. Six commercial probes (CDKN2C/CKS1B, RB1/DLEU1/LAMP1, TP53/CEN17, FGFR3::IGH, CCND1::IGH, and IGH::MAF) were examined to detect gains, losses, and rearrangements of genes across a total of 180 slides. We used reference values proposed by the European Myeloma Network (10% for rearrangements and 20% for gains and losses) to compare the accuracy of manual, automated, and semi-automated (automated coupled with manual revision) scoring. The time spent by the biologist to perform semi-automated and manual scoring was compared. Automated scoring was not effective and lacked validation. In contrast, semi-automated scoring proved to be efficient and highly accurate for all probes and offered time-saving benefits for deletion/gain probes. These findings suggest that semi-automated iFISH scoring for multiple myeloma is feasible and could become a routine practice in cytogenetics laboratories.</p>

Digital object identifier (DOI): 10.1002/jemt.24844