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Study Identifies Novel Diagnostic Tool for Patients With Multiple Myeloma

By: Joshua D. Madera, MS
Posted: Friday, April 14, 2023

The novel diagnostic tool immunophenotyped-suspension-multiplex (ISM) fluorescence in situ hybridization (FISH) may be reliable in identifying three critical translocations of the IGH gene in patients with multiple myeloma, according to a study published in the Journal of Human Genetics. Through this diagnostic modality, risk-adapted individualized therapy for patients may be developed and implemented to achieve optimal outcomes, suggested Junya Kuroda, MD, PhD, of Kyoto Prefectural University of Medicine, Japan, and colleagues.

“This system may facilitate rapid reliable cytogenic diagnosis and promote patient-oriented therapy according to the type of chromosomal translocation in the setting of clinical practice,” explained Dr. Kuroda and his colleagues.

A total of 70 bone marrow samples were obtained from patients with relapsing or remitting multiple myeloma (n = 35), newly diagnosed multiple myeloma (n = 23), and monoclonal gammopathy of undetermined significance (n = 12). All bone marrow samples were subjected to ISM-FISH using imaging flow cytometry. ISM-FISH was compared with standard double-color FISH.

The study findings revealed that ISM-FISH was able to effectively identify three chromosomal translocations—t(11;14), t(4;14), and t(14;16)—in human myeloma-derived cell lines with a statistically significant true-positive signal rate. In addition, the sensitivity of ISM-FISH was found to be at least 1% and may even reach 0.1%. Moreover, ISM-FISH was more sensitive as compared with double-color FISH, with its best sensitivity up to 1.0%. The authors reported positive and negative concordance rates of 96.6% and 98.8%, respectively.

Disclosure: For full disclosures of the study authors, visit nature.com.


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