Table 3.
Limit of detection of translocations, V(D)J rearrangements and mutations in myeloma cell lines diluted into peripheral blood mononuclear cells.
| Cell line | Dilution | Translocations | IG rearrangements | Somatic mutations | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Barcoding analysisa | Filtering analysis | ||||||||||
| Breakpoint 1 | Breakpoint 2 | Breakpoint 3 | Breakpoint 4 | V(D)J 1 | V(D)J 2 | Mutation 1 | Mutation 2 | Mutation 1 | Mutation 2 | ||
| KMS11 | 1/10 | t(4;14)—1 | t(4;14)—2 | t(4;14)—3 | t(14;16) | IGKV3-15_J5 | IGKV1-37_J4 | FGFR3 p.Y373C | NA | FGFR3 p.Y373C | NA |
| 1/102 | t(4;14)—1 | t(4;14)—2 | t(4;14)—3 | t(14;16) | IGKV3-15_J5 | IGKV1-37_J4 | FGFR3 p.Y373C | ||||
| 1/103 | t(4;14)—1 | t(14;16) | IGKV3-15_J5 | FGFR3 p.Y373C | |||||||
| 1/104 | t(4;14)—3 | ||||||||||
| 1/105 | t(4;14)—1 | ||||||||||
| 1/106 | |||||||||||
| RPMI-8226 | 1/10 | t(16;22)—1 | t(16;22)—2 | NA | NA | IGKV2-28_J4 | IGLV2-14_J3 | KRAS p.G12A | TP53 p.E285K | KRAS p.G12A | TP53 p.E285K |
| 1/102 | t(16;22)—1 | t(16;22)—2 | IGKV2-28_J4 | IGLV2-14_J3 | KRAS p.G12A | TP53 p.E285K | |||||
| 1/103 | t(16;22)—1 | IGKV2-28_J4 | KRAS p.G12A | TP53 p.E285K | |||||||
| 1/104 | |||||||||||
| 1/105 | |||||||||||
| 1/106 | |||||||||||
| MM1S | 1/10 | t(14;16) | NA | NA | NA | IGHV3-30_D2-2_J6 | IGLV2-14_J3 | KRAS p.G12A | NA | KRAS p.G12A | NA |
| 1/102 | t(14;16) | IGHV3-30_D2-2_J6 | IGLV2-14_J3 | KRAS p.G12A | |||||||
| 1/103 | IGHV3-30_D2-2_J6 | IGLV2-14_J3 | KRAS p.G12A | ||||||||
| 1/104 | |||||||||||
| 1/105 | |||||||||||
| 1/106 | |||||||||||
a
All four of these mutations were all detected down to 1/103 with barcoding but filtered out after 1/10 with LOD score calling.