Putative third-hit driver mutations/SCNAs in the studied DS TMDs/AMKLs
| Tumor . | Gene/locus . | Somatic mutation . | SCNA . | Pathway . | Catalog of Somatic Mutations in Cancer ID . | Other cancers* . | Reference PMID* . |
|---|---|---|---|---|---|---|---|
| AMKL15 | DLEC1 | p.D1772del_3nt | COSM308378 | AML, ccRCC, lymphoma | 23050586, 22461374, 22976956 | ||
| AMKL15 | EXT1 | Hemizygous loss, 6.2 Mb | WNT | AML, ALL, skin cancers | 15385438, 15797385 | ||
| AMKL15 | Chromosome 14 | Tetrasomy 14 | AML, CML, ALL | 21331167, 15942938, 19429805, 19148138, 15262443 | |||
| AMKL15 | Chromosome 21 | Tetrasomy 21 | AML,CML, ALL | 15339695, 15390279, 17431878 | |||
| AMKL16 | SMC3 | p.G1118R | Chromatin remodeling, TP53 signaling | AML | 22237025, 22237025 | ||
| AMKL16 | DHX29 | p.E178K | GBM, melanoma, ovarian cancer | 20018725 | |||
| AMKL16 | POLE | p.R976L | MMR | COSM937303 (p.R976S) | Endometrial, colorectal cancers | 23636398, 22810696 | |
| AMKL16 | JAK1 | p.S703T | JAK-STAT | COSM96541 | ALL | 21390130, 22237106 | |
| AMKL16 | PARK2/PAKRG | Hemizygous loss, 1 Mb | TP53 signaling | ALL/CLL | 16287063 | ||
| AMKL16 | Chromosome 7 | i(7q) | AML,ALL | 12959859, 3873587 | |||
| AMKL4 | EZH2 | p.D674_Y675ins_1nt | Chromatin remodeling | COSM52999 | AML | 21921040, 23099237, 20601953 | |
| AMKL4 | APC | Hemizygous loss, 35 Mb | WNT | AML | 21765021, 21339756, 20733155 | ||
| TMD4 | PIK3C2A | p.R1461× | PI3K | — | 22983395 | ||
| TMD12 | FLT3 | p.K663N | MAPK | COSM24667 (p.K663Q) | AML | 17359372 |
| Tumor . | Gene/locus . | Somatic mutation . | SCNA . | Pathway . | Catalog of Somatic Mutations in Cancer ID . | Other cancers* . | Reference PMID* . |
|---|---|---|---|---|---|---|---|
| AMKL15 | DLEC1 | p.D1772del_3nt | COSM308378 | AML, ccRCC, lymphoma | 23050586, 22461374, 22976956 | ||
| AMKL15 | EXT1 | Hemizygous loss, 6.2 Mb | WNT | AML, ALL, skin cancers | 15385438, 15797385 | ||
| AMKL15 | Chromosome 14 | Tetrasomy 14 | AML, CML, ALL | 21331167, 15942938, 19429805, 19148138, 15262443 | |||
| AMKL15 | Chromosome 21 | Tetrasomy 21 | AML,CML, ALL | 15339695, 15390279, 17431878 | |||
| AMKL16 | SMC3 | p.G1118R | Chromatin remodeling, TP53 signaling | AML | 22237025, 22237025 | ||
| AMKL16 | DHX29 | p.E178K | GBM, melanoma, ovarian cancer | 20018725 | |||
| AMKL16 | POLE | p.R976L | MMR | COSM937303 (p.R976S) | Endometrial, colorectal cancers | 23636398, 22810696 | |
| AMKL16 | JAK1 | p.S703T | JAK-STAT | COSM96541 | ALL | 21390130, 22237106 | |
| AMKL16 | PARK2/PAKRG | Hemizygous loss, 1 Mb | TP53 signaling | ALL/CLL | 16287063 | ||
| AMKL16 | Chromosome 7 | i(7q) | AML,ALL | 12959859, 3873587 | |||
| AMKL4 | EZH2 | p.D674_Y675ins_1nt | Chromatin remodeling | COSM52999 | AML | 21921040, 23099237, 20601953 | |
| AMKL4 | APC | Hemizygous loss, 35 Mb | WNT | AML | 21765021, 21339756, 20733155 | ||
| TMD4 | PIK3C2A | p.R1461× | PI3K | — | 22983395 | ||
| TMD12 | FLT3 | p.K663N | MAPK | COSM24667 (p.K663Q) | AML | 17359372 |
ccRCC, clear cell renal cell carcinoma; GBM, glioblastoma multiforme; MMR, mismatch repair pathway.
Mutations affecting the same amino acid are denoted in bold type.