Table 2.
Fresh mononuclear cell sample | dFFPE bone marrow trephine biopsy | ||||||
---|---|---|---|---|---|---|---|
|
|||||||
Sequence variation | Allele frequency (%) | Reads | Sanger | Allele frequency (%) | Reads | Sanger | |
Case 1 | TET2 p.Q916X | 42.92 | 890 | pos. | 45.9 | 1011 | pos. |
TET2 p.I1762V | 50.84 | 2026 | pos. | 49.13 | 2019 | pos. | |
TET2 p.I1873T | 42.97 | 1145 | pos. | 43.48 | 1334 | pos. | |
TET2 p.I1873MfsX14 | 6.2 | 1145 | neg. | 6.6 | 1334 | neg. | |
Case 2 | CBL p.L380P | 30.5 | 2279 | pos. | 31.6 | 883 | pos. |
TET2 p.Y1255LfsX13 | 49.1 | 1564 | pos. | 37.23 | 462 | pos. | |
TET2 p.L1816X | 46.5 | 1688 | pos. | 41.9 | 432 | pos. | |
Case 3 | CBL p.L380P | 51.91 | 836 | pos. | 45.71 | 862 | pos. |
TET2 p.G355D | 50.68 | 876 | pos. | 50.52 | 1348 | pos. | |
TET2 p.D527EfsX6 | 12.78 | 1221 | neg. | 11.37 | 1381 | neg. | |
TET2 p.D527EfsX6 | 27.17 | 530 | pos. | 30.8 | 685 | pos. | |
TET2 p.H1380Y | 50.59 | 597 | pos. | 42.23 | 753 | pos. | |
TET2 p.I1762V | 48.84 | 1116 | pos. | 43.86 | 1058 | pos. | |
Case 4 | TET2 p.N752KfsX59 | 34.59 | 743 | pos. | 38.51 | 1688 | pos. |
TET2 p.D1704EfsX9 | 5.19 | 752 | neg. | 4.19 | 1741 | neg. | |
TET2 p.I1762V | 48.94 | 1561 | pos. | 51.3 | 3302 | pos. |