From: Next Generation Sequencing of Acute Myeloid Leukemia: Influencing Prognosis
NGS Techniques | References | AML type | Recurrent Mutations identified (Frequency) | Mutation Type |
---|---|---|---|---|
Whole Genome Seq | Ley et al[11] | CN-AML/M1 | FLT3 (27.6), NPM1 (23.9) | Indels |
 | Mardis et al[12] | CN-AML | NPM1 (23.9), NRAS (9.3), IDH1 (8.5) | Frame shift insertion, missense |
 | Ley et al[13] | CN-AML | DNMT3A (22.1) | non-synonymous SNV |
 | Ding et al[17] | CN-AML | TTN, DNMT3A, NPM1, FLT3, WT1, RUNX1, IDH2 | non-synonymous SNVs |
Whole Genome, Exome seq | Cancer Genome Atlas Research Network [88] | De-novo AML | NPM1, FLT3, DNMT3A, IDH1, IDH2, NRAS, RUNX1, TET2 | non-synonymous SNVs |
Exome Seq | Yan et al[28] | AML-M5 | DNMT3A (20.5), GATA2 (3.6), MLL(19.6) | Missense, translocation |
 | Grossmann et al[30] | CN-AML (NPM-FLT-CEBPA-MLL-) | BCOR (17.1) | disruptive mutation |
 | Grief et al[31] | BiCEBPA+ AML | GATA2 (39.4) | Missense mutation |
 | Opatz et al[32] | CBF leukemia | FLT3-N676K (6) | Missense mutation |
Targeted DNA capture | Conte et al[34] | CN-AML | FLT3, NPM1, CEBPA, DNMT3A, TET2, IDH1, IDH2, WT1, RAS | Single base substitution, indels |
Transcriptome Seq | Grief et al[29] | AML-M1 | TLE4, SHKBP1, RUNX1 | Missense mutation, Stop mutation |
 | Wen et al[22] | CN-AML | CIITA-DEXI fusion transcript (14/29) |  |
 | Masetti et al[23] | pediatric CN-AML | CBFA2T3-GLIS2 fusion transcript (8.4) |  |
 | Masetti et al[24] | pediatric CN-AML CBFA2T3-GLIS2 positive | DHH-RHEBL1 fusion transcript ( 40) |  |