Table 1.
EML4-ALK variant | Gene fusion points | Mutation frequency1 | Cell lines | Structural features | References |
---|---|---|---|---|---|
V1 | E13;A20 | 33 % (25 %) | H3122, DFCI032, STE-1 |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[7, 6, 51, 55] |
V2 | E20;A20 | 9 % (7.5 %) |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[7, 51] | |
E20;ins18A20 | (<1 %) |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[108] | ||
V3a | E6a;A20 | 29 % (18.5 %)2 | H2228 |
EML4- TD, basic No HELP or TAPE ALK TK |
[51] |
V3b | E6b;A20 | 29 % (18.5 %)2 | H2228 |
EML4- TD, basic No HELP or TAPE ALK TK |
[6, 51] |
V4 | E15del60;del71A20 | 2 % (<1 %) |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[51] | |
V4′ | E14;ins11del49A20 | 3 % (<1 %)3,5 |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[52] | |
V5a | E2;A20 | 2 % (<1 %)4 |
EML4- TD No basic, HELP or TAPE ALK TK |
[52] | |
V5b | E2;ins117A20 | (<1 %) |
EML4- TD No basic, HELP or TAPE ALK TK |
[52] | |
V5′ | E18;A20 | 2 % (<1 %) |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[109] | |
V6 | E13;ins69A20 | (<1 %) |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[110] | |
V7 | E14;del12A20 | See V4′ (<1 %)3,5 |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[110] | |
V8a | E17;ins30A20 | (<1 %)6 |
EML4- TD, basic, HELP motif, incomplete TAPE No functional ALK domain |
[111] | |
V8b | E17ins61;ins34A20 | (<1 %)6 |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[111] | |
E17;ins68A20 | 1 % (<1 %)6 |
EML4- TD, basic, HELP motif, incomplete TAPE ALK TK |
[108] | ||
Unknown | 19 % (45 %) |
1Mutation frequency obtained from [53] and COSMIC (Catalogue of somatic mutations in cancer), shown in parentheses [112]
2Note that frequency of V3a and V3b are the same because they are splice variants
3Note that V4′ and V7 are combined in the source Ref. [53]
4Note that V5a and V5b are combined in the source Ref. [53]
5Note that COSMIC lists E14;A20 translocations, but not V4′ and V7
6Note that COSMIC lists E17;A20 translocations, but not V8a or V8b