Research Article Revealing Genomic Profile That Underlies Tropism of Myeloma Cells Using Whole Exome Sequencing

Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background. Previously we established two cell lines (SNU MM1393 BM and SNU MM1393 SC) from different tissues (bone marrow and subcutis) of mice which were injected with single patient’s myeloma sample.We tried to define genetic changes specific for each cell line using whole exome sequencing (WES).Materials and Methods.We extracted DNA from SNU MM1393 BM and SNU MM1393 SC and performed WES. For single nucleotide variants (SNV) calling, we used Varscan2. Annotation of mutation was performed using ANNOVAR. Results. When calling of somatic mutations was performed, 68 genes were nonsynonymously mutated only in SNU MM1393 SC, while 136 genes were nonsynonymously mutated only in SNU MM1393 BM. KIAA1199, FRY, AP3B2, andOPTC were representative genes specifically mutated in SNU MM1393 SC.When comparison analysis was performed using TCGA data, mutational pattern of SNU MM1393 SC resembled that of melanoma mostly. Pathway analysis using KEGG database showed that mutated genes specific of SNU MM1393 BMwere related to differentiation, while those of SNU MM1393 SC were related to tumorigenesis.Conclusion.We found out genetic changes that underlie tropismofmyeloma cells usingWES.Genetic signature of cutaneous plasmacytoma shares that of melanoma implying common mechanism for skin tropism. KIAA1199, FRY, AP3B2, and OPTC are candidate genes for skin tropism of cancers. 1