BCR-ABL1 compound mutations in patients with ≥ 2 mutations
| Patient ID no. (N = 47)* . | ≥ 2 mutations detected by direct sequencing . | Confirmed BCR-ABL1 compound mutation(s)†‡ . |
|---|---|---|
| 1. CML#1 | V299L, M351T | V299L/M351T |
| 2. CML#2 | F317I, F359V | F317I/F359V |
| 3. CML#3 | Q252H, Y253H, T315I | None |
| 4. CML#4 | V299L, L384M | V299L/L384M |
| 5. CML#5 | E255V, T315I | None |
| 6. CML#6 | F311L, T315I | F311L/T315I |
| 7. CML#7 | T315I, F359V | T315I/F359V |
| 8. CML#8 | E255K, T315I | None |
| 9. CML#9 | V268A, F359V | V268A/F359V |
| 10. CML#10 | M244V, T315I | M244V/T315I |
| 11. CML#11 | G250E, M351T | G250E/M351T |
| 12. CML#12 | T315I, F317L | None |
| 13. CML#13 | E255K, F317L | E255K/F317L |
| 14. CML#14 | T315I, E355G, F359V | T315I/F359V§ |
| 15. CML#15 | T315I, D325G | None |
| 16. CML#16 | L298V, V299L | L298V/V299L |
| 17. CML#17 | T315I, F359C | T315I/F359C |
| 18. CML#18 | G250E, V299L | G250E/V299L |
| 19. CML#19 | E255K, M351T | E255K/M351T |
| 20. CML#20* | H396R, F317L | None |
| 21. CML#23 | G250E, T315I | G250E/T315I |
| 22. CML#24* | G250E, T315A | G250E/T315A |
| 23. CML#27 | V338F, L384M | V338F/L384M |
| 24. CML#28 | V299L, E459K | V299L/E459K |
| 25. CML#29 | G250E, E255V | None |
| 26. CML#30 | Y253H, F317L | Y253H/F317L |
| 27. CML#31 | M244V, F317L | M244V/F317L |
| 28. CML#32 | M244V, M351T | M244V/M351T |
| 29. CML#33 | M351T, F359V | None |
| 30. CML#34 | L248V, G250E | None |
| 31. CML#35 | Y253H, F359V | Y253H/F359V |
| 32. CML#36 | T315I, H396R | T315I/H396R |
| 33. CML#37 | V299L, F359V | V299L/F359V |
| 34. CML#38 | V299L, F359V | None |
| 35. CML#39 | Y253H, T315I | None |
| 36. CML#40 | M244V, E459K | M244V/E459K |
| 37. CML#41 | E255K, T315I | E255K/T315I |
| 38. CML#42 | G250E, Y253H, F317L | G250E/F317L |
| 39. CML#43 | F317L, M351T | F317L/M351T |
| 40. CML#44 | T315I, L387M | L387M/T315I |
| 41. CML#45 | F317L, Y253H | F317L/Y253H |
| 42. CML#46 | T315A, F317C, F317L, F317V | None |
| 43. CML#47 | Y253H, E255V | None |
| 44. CML#48 | T315I, F359V | None |
| 45. CML#49 | G250E, V299L | G250E/V299L |
| 46. CML#50 | G250E, E459K | G250E/E459K |
| 47. CML#51 | F311L, H396R | F311L/H396R |
| Patient ID no. (N = 47)* . | ≥ 2 mutations detected by direct sequencing . | Confirmed BCR-ABL1 compound mutation(s)†‡ . |
|---|---|---|
| 1. CML#1 | V299L, M351T | V299L/M351T |
| 2. CML#2 | F317I, F359V | F317I/F359V |
| 3. CML#3 | Q252H, Y253H, T315I | None |
| 4. CML#4 | V299L, L384M | V299L/L384M |
| 5. CML#5 | E255V, T315I | None |
| 6. CML#6 | F311L, T315I | F311L/T315I |
| 7. CML#7 | T315I, F359V | T315I/F359V |
| 8. CML#8 | E255K, T315I | None |
| 9. CML#9 | V268A, F359V | V268A/F359V |
| 10. CML#10 | M244V, T315I | M244V/T315I |
| 11. CML#11 | G250E, M351T | G250E/M351T |
| 12. CML#12 | T315I, F317L | None |
| 13. CML#13 | E255K, F317L | E255K/F317L |
| 14. CML#14 | T315I, E355G, F359V | T315I/F359V§ |
| 15. CML#15 | T315I, D325G | None |
| 16. CML#16 | L298V, V299L | L298V/V299L |
| 17. CML#17 | T315I, F359C | T315I/F359C |
| 18. CML#18 | G250E, V299L | G250E/V299L |
| 19. CML#19 | E255K, M351T | E255K/M351T |
| 20. CML#20* | H396R, F317L | None |
| 21. CML#23 | G250E, T315I | G250E/T315I |
| 22. CML#24* | G250E, T315A | G250E/T315A |
| 23. CML#27 | V338F, L384M | V338F/L384M |
| 24. CML#28 | V299L, E459K | V299L/E459K |
| 25. CML#29 | G250E, E255V | None |
| 26. CML#30 | Y253H, F317L | Y253H/F317L |
| 27. CML#31 | M244V, F317L | M244V/F317L |
| 28. CML#32 | M244V, M351T | M244V/M351T |
| 29. CML#33 | M351T, F359V | None |
| 30. CML#34 | L248V, G250E | None |
| 31. CML#35 | Y253H, F359V | Y253H/F359V |
| 32. CML#36 | T315I, H396R | T315I/H396R |
| 33. CML#37 | V299L, F359V | V299L/F359V |
| 34. CML#38 | V299L, F359V | None |
| 35. CML#39 | Y253H, T315I | None |
| 36. CML#40 | M244V, E459K | M244V/E459K |
| 37. CML#41 | E255K, T315I | E255K/T315I |
| 38. CML#42 | G250E, Y253H, F317L | G250E/F317L |
| 39. CML#43 | F317L, M351T | F317L/M351T |
| 40. CML#44 | T315I, L387M | L387M/T315I |
| 41. CML#45 | F317L, Y253H | F317L/Y253H |
| 42. CML#46 | T315A, F317C, F317L, F317V | None |
| 43. CML#47 | Y253H, E255V | None |
| 44. CML#48 | T315I, F359V | None |
| 45. CML#49 | G250E, V299L | G250E/V299L |
| 46. CML#50 | G250E, E459K | G250E/E459K |
| 47. CML#51 | F311L, H396R | F311L/H396R |
Discontinuous patient numbers reflect omission of sequential samples.
Confirmed by cloning and sequencing as described in “Methods” and “Results.”
Compound mutations were confirmed among 33 patients. Within the 33 compound mutations, 3 pairings occurred twice (G250E/V299L, Y253H/F317L, and T315I/F359V). Therefore, a total of 30 different compound mutations are represented in this dataset.
The K294K/V299L/M351T compound mutation was detected at a level similar to that of T315I/F359V during cloning and sequencing of the 10 colonies (K294K/V299L/M351T:4/10, T315I/F359V:4/10); however, it was undetected by direct sequencing so it is not considered a predominant mutation according to our definition (Table 1).