ATM studies in 20 MCL tumors
| Sample . | MCL variant . | Genetic analysis . | Gene product . | Protein expression . | CGH . | p53 and p14 ARF . | |||
|---|---|---|---|---|---|---|---|---|---|
| Polymorphisms . | Mutations . | Germline . | 11q . | N . | |||||
| 1 | T | — | 4182ins29 | NA | FS1349STOP | Absent | DEL | 6 | WT |
| 2 | T | — | 9023 GA | NA | R3008H | Low | DEL | 9 | p14 del |
| 3 | T | (1)(2)(4) | WT | — | WT | Absent | DEL | 8 | WT |
| 4 | T | — | WT | — | WT | NA | DEL | 8 | WT |
| 5 | T | (2)(4) | WT | — | WT | NA | DEL | 5 | WT |
| 6 | T | (4) | 8174 AT | NA | D2725V | NA | DEL | 8 | WT |
| 7 | B | (4) | 1 AT | NA | M(Start)1L | Absent | DEL | 8 | WT |
| 8 | B | (4) | 67 CT | Present | R23STOP | Absent | DEL | 9 | WT |
| Δ73-76 | NP | ||||||||
| 9 | B | (1)(3)(4) | WT | — | WT | Low | DEL | 9 | WT |
| 10 | T | (4) | WT | — | WT | Normal | WT | 4 | p53 mut |
| 11 | B | (4)(5) | WT | — | WT | Normal | WT | 20 | p53 mut |
| 12 | B | (4) | 8150 AT | NP | K2717M | Low | WT | 12 | p53 del |
| 13 | B | (4) | Δ1564-1565 | NP | FS564STOP† | Absent | WT | 9 | p53 del |
| 14 | T | (1)(4) | WT | — | WT | Normal | WT | 4 | WT |
| 15 | T | (1) | WT | — | WT | Normal | WT | 3 | WT |
| 16 | T | (1)(4) | WT | — | WT | Normal | WT | 3 | WT |
| 17 | T | (1)(4)(6) | WT | — | WT | Normal | WT | 3 | WT |
| 18 | T | — | WT* | — | WT | Normal | WT | 1 | WT |
| 19 | B | — | WT* | — | WT | Normal | WT | 7 | WT |
| 20 | B | — | WT* | — | WT | Normal | WT | 4 | WT |
| Sample . | MCL variant . | Genetic analysis . | Gene product . | Protein expression . | CGH . | p53 and p14 ARF . | |||
|---|---|---|---|---|---|---|---|---|---|
| Polymorphisms . | Mutations . | Germline . | 11q . | N . | |||||
| 1 | T | — | 4182ins29 | NA | FS1349STOP | Absent | DEL | 6 | WT |
| 2 | T | — | 9023 GA | NA | R3008H | Low | DEL | 9 | p14 del |
| 3 | T | (1)(2)(4) | WT | — | WT | Absent | DEL | 8 | WT |
| 4 | T | — | WT | — | WT | NA | DEL | 8 | WT |
| 5 | T | (2)(4) | WT | — | WT | NA | DEL | 5 | WT |
| 6 | T | (4) | 8174 AT | NA | D2725V | NA | DEL | 8 | WT |
| 7 | B | (4) | 1 AT | NA | M(Start)1L | Absent | DEL | 8 | WT |
| 8 | B | (4) | 67 CT | Present | R23STOP | Absent | DEL | 9 | WT |
| Δ73-76 | NP | ||||||||
| 9 | B | (1)(3)(4) | WT | — | WT | Low | DEL | 9 | WT |
| 10 | T | (4) | WT | — | WT | Normal | WT | 4 | p53 mut |
| 11 | B | (4)(5) | WT | — | WT | Normal | WT | 20 | p53 mut |
| 12 | B | (4) | 8150 AT | NP | K2717M | Low | WT | 12 | p53 del |
| 13 | B | (4) | Δ1564-1565 | NP | FS564STOP† | Absent | WT | 9 | p53 del |
| 14 | T | (1)(4) | WT | — | WT | Normal | WT | 4 | WT |
| 15 | T | (1) | WT | — | WT | Normal | WT | 3 | WT |
| 16 | T | (1)(4) | WT | — | WT | Normal | WT | 3 | WT |
| 17 | T | (1)(4)(6) | WT | — | WT | Normal | WT | 3 | WT |
| 18 | T | — | WT* | — | WT | Normal | WT | 1 | WT |
| 19 | B | — | WT* | — | WT | Normal | WT | 7 | WT |
| 20 | B | — | WT* | — | WT | Normal | WT | 4 | WT |
Only the kinase domain was analyzed by direct sequencing.
Absence of the normal wild-type allele in the sequencing analysis, suggesting a microdeletion.
Polymorphisms appear in parentheses as follows: (1) R2486R; (2) D1853N; (3) Q476Q; (4) N750K; (5) C532Y; (6) P1054R. 11q indicates 11q status by CGH; N, number of chromosomal imbalances by CGH; T, typical; B, blastoid; WT, wild-type; NA, not available; and NP, not present.