Mutations detected in BM, PB, and serum using 454-PS and Sanger sequencing
| PB USN . | WHO Classification . | Gene . | Mutation Site . | PB Clone Size (%) . | PB Sanger . | BM USN . | BM Clone Size (%) . | Serum Sanger . |
|---|---|---|---|---|---|---|---|---|
| *682 | RAEB-1 | TET2 | D1844G | S | + | 683 | 68 | — |
| U2AF35 | S34F | 9 | — | 9 | — | |||
| *1196 | RARS-T | JAK2 | V617F | 21 | + | 1190 | 24 | |
| SF3B1 | K700E | 25 | + | 41 | ||||
| *1334 | RAEB-2 | DNMT3A | F751V | 9 | — | 1280 | 25 | |
| P904S | 10 | — | 20 | |||||
| *1337 | sAML | FLT3 | ITD | S | + | 1284 | 40 | + |
| CBL | Y368S | S | + | 8 | — | |||
| *1533 | RAEB-2 | ASXL1 | G646WfsX12 | 8 | — | 1532 | 22 | |
| NRAS | Q61R | Fail | — | 11 | ||||
| FLT3 | ITD | 2 | — | 5 | ||||
| SRSF2 | P95H | 50 | + | 45 | ||||
| *1591 | RAEB-1 | TP53 | L43X | 16 | — | 1590 | 40 | Fail |
| TP53 | C238Y | 15 | — | 41 | Fail | |||
| TET2 | R1878H | S | + | 6 | Fail | |||
| *1599 | RCMD | U2AF35 | Q157P | 17 | — | 1600 | 27 | |
| 1606 | RCMD | DNMT3A | W313X | 44 | + | 955 | 32 | |
| *1637 | RCMD | SF3B1 | E622D | S | + | 1636 | 40 | + |
| *1682 | RCMD | TET2 | I1195V | S | + | 1681 | 47 | |
| *1809 | RAEB-1 | TET2 | L1322fs | S | + | 1808 | 22 | + |
| 1850 | tMDS | TP53 | Y220C | 30 | + | 1393 | 42 | + |
| TP53 | Q331H | 23 | + | 41 | Fail | |||
| *1902 | RAEB-1 | TP53 | G266E | 15 | — | 1898 | 28 | |
| TET2 | Y1148C | S | + | 25 | ||||
| TP53 | G325fsX12 | 16 | — | 28 | ||||
| 2233 | RAEB-2 | TP53 | V157F | 1.5 | — | 1894 | 24 | Fail |
| 2301 | RCMD | ASXL1 | R860X | 31 | + | 2025 | 34 | + |
| *2734 | RCMD | SF3B1 | R625C | 45 | + | 2733 | 46 | |
| FLT3 | ITD | 50, 10 | + | 80 | ||||
| TET2 | S5835X | S | + | 35 | ||||
| *7664 | RARS | TET2 | Q652X | S | + | 7660 | 34 | + |
| SF3B1 | K700E | 18 | — | 30 | + | |||
| 7781 | RAEB-2 | ASXL1 | Q708X | 40 | + | 4242 | 35 | + |
| 8748 | RCMD | IDH2 | R140Q | 4.5 | — | 4323 | 35 | — |
| SF3B1 | K700E | 1.6 | — | 40 | — | |||
| 9235 | RCMD | DNMT3A | W581S | 25 | + | 5087 | 22 | |
| SF3B1 | H662Q | 42 | + | 30 | ||||
| 9999 | RARS | SF3B1 | H662Q | 40 | + | 4370 | 42 | — |
| PB USN . | WHO Classification . | Gene . | Mutation Site . | PB Clone Size (%) . | PB Sanger . | BM USN . | BM Clone Size (%) . | Serum Sanger . |
|---|---|---|---|---|---|---|---|---|
| *682 | RAEB-1 | TET2 | D1844G | S | + | 683 | 68 | — |
| U2AF35 | S34F | 9 | — | 9 | — | |||
| *1196 | RARS-T | JAK2 | V617F | 21 | + | 1190 | 24 | |
| SF3B1 | K700E | 25 | + | 41 | ||||
| *1334 | RAEB-2 | DNMT3A | F751V | 9 | — | 1280 | 25 | |
| P904S | 10 | — | 20 | |||||
| *1337 | sAML | FLT3 | ITD | S | + | 1284 | 40 | + |
| CBL | Y368S | S | + | 8 | — | |||
| *1533 | RAEB-2 | ASXL1 | G646WfsX12 | 8 | — | 1532 | 22 | |
| NRAS | Q61R | Fail | — | 11 | ||||
| FLT3 | ITD | 2 | — | 5 | ||||
| SRSF2 | P95H | 50 | + | 45 | ||||
| *1591 | RAEB-1 | TP53 | L43X | 16 | — | 1590 | 40 | Fail |
| TP53 | C238Y | 15 | — | 41 | Fail | |||
| TET2 | R1878H | S | + | 6 | Fail | |||
| *1599 | RCMD | U2AF35 | Q157P | 17 | — | 1600 | 27 | |
| 1606 | RCMD | DNMT3A | W313X | 44 | + | 955 | 32 | |
| *1637 | RCMD | SF3B1 | E622D | S | + | 1636 | 40 | + |
| *1682 | RCMD | TET2 | I1195V | S | + | 1681 | 47 | |
| *1809 | RAEB-1 | TET2 | L1322fs | S | + | 1808 | 22 | + |
| 1850 | tMDS | TP53 | Y220C | 30 | + | 1393 | 42 | + |
| TP53 | Q331H | 23 | + | 41 | Fail | |||
| *1902 | RAEB-1 | TP53 | G266E | 15 | — | 1898 | 28 | |
| TET2 | Y1148C | S | + | 25 | ||||
| TP53 | G325fsX12 | 16 | — | 28 | ||||
| 2233 | RAEB-2 | TP53 | V157F | 1.5 | — | 1894 | 24 | Fail |
| 2301 | RCMD | ASXL1 | R860X | 31 | + | 2025 | 34 | + |
| *2734 | RCMD | SF3B1 | R625C | 45 | + | 2733 | 46 | |
| FLT3 | ITD | 50, 10 | + | 80 | ||||
| TET2 | S5835X | S | + | 35 | ||||
| *7664 | RARS | TET2 | Q652X | S | + | 7660 | 34 | + |
| SF3B1 | K700E | 18 | — | 30 | + | |||
| 7781 | RAEB-2 | ASXL1 | Q708X | 40 | + | 4242 | 35 | + |
| 8748 | RCMD | IDH2 | R140Q | 4.5 | — | 4323 | 35 | — |
| SF3B1 | K700E | 1.6 | — | 40 | — | |||
| 9235 | RCMD | DNMT3A | W581S | 25 | + | 5087 | 22 | |
| SF3B1 | H662Q | 42 | + | 30 | ||||
| 9999 | RARS | SF3B1 | H662Q | 40 | + | 4370 | 42 | — |
TET2 was analyzed using 454-PS in BM and Sanger sequencing in both BM and PB. Serum was analyzed using Sanger sequencing.
+/− mutation detectable or undetectable using Sanger sequencing; fail, uninformative result; S, Sanger sequencing of TET2; USN, unique sample number; USN, patients who have been analyzed using 454-PS and Sanger sequencing from unamplified and whole genome amplified DNA; USN*, patients with concurrent BM and PB samples; WHO, World Health Organization.