Table 1.
Patients used in the study, ALK mutations and clinical data.
| Case | ALK mut. status - Sanger | ALK mut. status - Deep seq (% of mutated allele) | Effect on ALK | Outcome | SNP array genomic profile | aad (age at diagnosis) | INRG |
|---|---|---|---|---|---|---|---|
| 1 | Not done | Neg | NED > 5 y | Other segm. | 18 | L | |
| 2 | Neg | Neg | DOD | NMA | 27 | M | |
| 3 | Neg | Neg | DOD | 11q-del | 76 | L | |
| 4 | Not done | Neg | NED > 5 y | 17q-gain | 14 | L | |
| 5 | Neg | Neg | NED > 5 y | 17q-gain | 102 | L | |
| 6 | Not done | Neg | NED > 5 y | Num only | 32 | L | |
| 7 | Neg | Neg | NED > 5 y | Other segm. | 12 | L | |
| 8 | Neg D1160D | Neg | NED > 5 y | Num only | 21 | L | |
| 9 | Neg | Neg | DOD | NMA | 19 | M | |
| 10 | Neg | Neg | DOD | Num only | 48 | M | |
| 11 | Not done | Neg | NED > 5 y | 11q-del | 30 | L | |
| 12 | F1174L | F1174L (24,7%) | GOF | DOD | NMA | 15 | M |
| 13 | Neg | Neg | NED > 5 y | Num only | 30 | L | |
| 14 | Neg | Neg | NED > 5 y | 17q-gain | 19 | L | |
| 15 | Neg | Neg | DOD | 11q-del | 80 | L | |
| 16 | Neg | Neg | DOD | NMA | 18 | M | |
| 17 | F1174C | F1174C (19%) | GOF | NED > 5 y | Num only | 25 | L |
| 18 | Neg | I1171T (2,7%) | GOF | NED > 5 y | NMA | 29 | M |
| 19 | Neg | Neg | DOD | NMA | 37 | L | |
| 20 | Neg | Neg | NED > 5 y | Other segm. | 21 | L | |
| 21 | Neg | Neg | NED > 5 y | 11q-del | 9 | L | |
| 22 | Neg | Neg | DOD | 11q-del | 80 | M | |
| 23 | Neg | Neg | DOD | NMA | 8 | L | |
| 24 | Neg | Neg | NED > 5 y | NMA | 35 | L | |
| 25 | Neg | Neg | NED > 5 y | Num only | 43 | L | |
| 26 | F1245I | F1245I (53%) | GOF | AWD | Other segm. | 5 | L |
| 27 | Neg | Neg | NED > 5 y | Num only | 0 | L | |
| 28 | Neg | Neg | DOD | NMA | 21 | M | |
| 29 | Neg | Neg | NED > 5 y | 11q-del | 74 | M | |
| 30 | Neg | Neg | DOD | 11q-del | 6 | M | |
| 31 | Neg | Neg | NED > 5 y | 11q-del | 43 | M | |
| 32 | Neg | Neg | DOD | 17q-gain | 10 | L | |
| 33 | Not done | Neg | NED > 5 y | Other segm. | 12 | L | |
| 34 | Neg | Neg | DOD | 11q-del | 170 | L | |
| 35 | Neg | Neg | DOD | NMA | 37 | M | |
| 36 | Neg | Neg | NED > 5 y | Other segm. | 4 | L | |
| 37 | Neg | Neg | NED > 5 y | Other segm. | 63 | L | |
| 38 | F1245C | F1245C (52,4%) | GOF | NED > 5 y | 17q-gain | 92 | M |
| 39 | Neg | Neg | NED > 5 y | Num only | 11 | L | |
| 40 | 1st Neg/2nd F1147S | 2nd F1174S (58,7) and F1174I (7,7%) | GOF & GOF | DOD | 17q-gain | 12 | M |
| 41 | Not done | Neg | NED > 5 y | 17q-gain | 6 | L | |
| 42 | F1174I | F1174I (22%) | GOF | NED > 5 y | Other segm. | 27 | L |
| 43 | F1174L | F1174L (22%) | GOF | NED > 5 y | Other segm. | 90 | M |
| 44 | Neg | Neg | DOD | NMA | 12 | M | |
| 45 | Not done | Neg | Amp. | DOD | NMA ( + ALK-amp) | 11 | M |
| 46 | Neg | Neg | DOD | Other segm. | 33 | M | |
| 47 | Neg | F1245I (14%) | GOF | DOD | NMA | 21 | M |
| 48 | Neg | Neg | DOD | 17q-gain | 55 | M | |
| 49 | Not done | Neg | NED > 5 y | NMA | 15 | M | |
| 50 | 1st Neg /2nd F1174L | F1174L (25,9%) | GOF | DOD | NMA | 29 | M |
| 51 | Not done | Neg | NED > 5 y | 11q-del | 33 | M | |
| 52 | Neg | Neg | DOD | 11q-del | 32 | M | |
| 53 | F1174I, const. | F1174I (61,2%) | GOF | DOD | Other segm. | 1 | M |
| 54 | Neg | Neg | DOD | Num only | 0 | MS | |
| 55 | Neg | Neg | DOD | 11q-del | 21 | M | |
| 56 | Neg | Neg | DOD | NMA | 14 | M | |
| 57 | Neg | Neg | Amp. | DOD | NMA ( + ALK-amp) | 31 | M |
| 58 | Not done | Neg | NED > 5 y | 11q-del | 10 | L | |
| 59 | Not done | Neg | NED > 5 y | 17q gain | 98 | L | |
| 60 | Neg | Neg | Amp. | DOD | NMA ( + ALK-amp) | 25 | M |
| 61 | F1174L | F1174L (18%) | GOF | DOD | NMA | 41 | L |
| 62 | Neg | Neg | NED > 5 y | 11q-del | 92 | M | |
| 63 | Not done | Neg | NED < 5 y | Other segm. | 6 | L | |
| 64 | Neg | Neg | NED < 5 y | Other segm. | 5 | L | |
| 65 | Not done | Neg | NED < 5 y | NMA | 28 | M | |
| 66 | Not done | Neg | NED < 5 y | Other segm. | 32 | L | |
| 67 | Not done | Neg | NED < 5 y | Num only | 2 | L | |
| 68 | Not done | Neg | NED < 5 y | 17q gain | 37 | L | |
| 69 | Not done | Neg | DOD | NMA | 39 | M | |
| 70 | Neg | Neg | DOD | NMA + 11q-del | 28 | M | |
| 71 | Not done | Neg | NED < 5 y | NMA | 18 | L | |
| 72 | Neg | Neg | NED < 5 y | 11q-del | 18 | L | |
| 73 | Not done | Neg | NED < 5 y | 11q-del | 26 | L | |
| 74 | Not done | Neg | NED < 5 y | Other segm. | 11 | M | |
| 75 | Neg | Neg | NED < 5 y | 11q-del | 70 | L | |
| 76 | Not done | Neg | NED < 5 y | Num only | 1 | L | |
| 77 | Not done | Neg | NED < 5 y | Num only | 18 | L | |
| 78 | Neg | Neg | NED < 5 y | Other segm. | 0 | L | |
| 79 | Neg | Neg | DOD | NMA + 11q-del | 30 | M | |
| 80 | Neg | Neg | NED < 5 y | Other segm. | 37 | L | |
| 81 | Neg | Neg | NED < 5 y | NMA | 13 | L | |
| 82 | Neg | Neg | NED < 5 y | NMA | 10 | L | |
| 83 | Neg | Neg | NED < 5 y | 11q-del | 18 | L | |
| 84 | Neg | F1174L (15,1%) | GOF | NED < 5 y | NMA | 23 | M |
| 85 | Neg | Neg | NED < 5 y | Num only | 6 | L | |
| 86 | Neg | Neg | NED < 5 y | 11q-del | 158 | M | |
| 87 | Neg | Neg | NED < 5 y | Other segm. | 12 | L | |
| 88 | Neg | Neg | NED < 5 y | NMA | 33 | M | |
| 89 | Neg | Neg | Amp. | NED < 5 y | NMA ( + ALK-amp) | 39 | M |
| 90 | Neg | Neg | NED < 5 y | Num only | 2 | L | |
| 91 | Neg | Neg | DOD | NMA + 11q-del | 11 | M | |
| 92 | Neg | F1174L (14%) | GOF | NED < 5 y | 17q gain | 37 | L |
| 93 | Neg | Neg | NED < 5 y | 11q-del | 124 | L | |
| 94 | Neg | Neg | NED < 5 y | 11q-del | 51 | L | |
| 95 | Neg | Neg | NED < 5 y | 11q-del | 13 | L | |
| 96 | Neg | Neg | NED < 5 y | 11q-del | 29 | L | |
| 97 | F1174L | F1174L (22,1%) | GOF | NED < 5 y | NUM only | 8 | L |
| 98 | Neg | Neg | NED < 5 y | 11q-del | 50 | M | |
| 99 | L1240V | L1240V (57,4%) | GOF | DOD | 17q gain + chrom.tr | 44 | M |
| 100 | Not done | Neg | NED < 5 y | Other segm. | 2 | L | |
| 101 | Not done | Neg | NED < 5 y | NMA | 27 | L | |
| 102 | Not done | Neg | NED < 5 y | 17q-gain | 66 | M | |
| 103 | Not done | Neg | NED < 5 y | Num only | 8 | L | |
| 104 | Not done | Neg | NED < 5 y | NMA | 15 | L | |
| 105 | Not done | Neg | AWD | NMA | 37 | M |