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We assessed the applicability of next-generation sequencing (NGS)-based  IGH / IGK  clonality testing and analyzed the repertoire of immunoglobulin heavy chain ( IGH ) or immunoglobulin kappa light chain ( IGK ) gene usage in Korean patients with multiple myeloma (MM) for the first time.    Methods  Fifty-nine bone marrow samples from 57 Korean patients with MM were analyzed, and NGS-based clonality testing that targeted the  IGH  and  IGK  genes was performed using  IGH  FR1 and  IGK  primer sets.    Results  Clonal  IGH  and  IGK  rearrangements were observed in 74.2% and 67.7% of samples from Korean patients with kappa-restricted MM, respectively (90.3% had one or both), and in 60.7% and 95.5% of samples from those with lambda-restricted MM, respectively (85.7% had one or both). In total, 88.1% of samples from Koreans with MM had clonal  IGH  and/or  IGK  rearrangement. Clonal rearrangement was not significantly associated with the bone marrow plasma cells as a proportion of all BM lymphoid cells.  IGHV3-9  (11.63%) and  IGHV4-31  (9.30%) were the most frequently reported  IGHV  genes and were more common in Koreans with MM than in Western counterparts.  IGHD3-10  and  IGHD3-3  (13.95% each) were the most frequent IGHD genes;  IGHD3-3  was more common in Koreans with MM. No  IGK  rearrangement was particularly prevalent, but single  IGKV-J  rearrangements were less common in Koreans with kappa-restricted MM than in Western counterparts.  IGKV4-1  was less frequent in Koreans regardless of light chain type. Otherwise, the usages of the  IGH  V, D, and J genes and of the  IGK  gene were like those observed in previous Western studies.    Conclusion  NGS-based  IGH / IGK  clonality testing ought to be applicable to most Koreans with MM. The overrepresentation of  IGHV3-9 ,  IGHV4-31 , and  IGHD3-3  along with the underrepresentation of  IGKV4-1  and the differences in  IGK  gene rearrangement types suggest the existence of ethnicity-specific variations in this disease.

Immunoglobulin gene rearrangement in Koreans with multiple myeloma: Clonality assessment and repertoire analysis using next-generation sequencing