Table 1.
The Prevalence of gene mutation in AML according to functional categories.
| Gene | Technique (n) | Sample size (n) | Frequency of mutation (%) | Region | References | |
|---|---|---|---|---|---|---|
| Adult | Childhood | |||||
| NUCLEOPLASMIN | ||||||
| NPMI | PCR & Direct Sequencing | 300 | 48.0 | Germany | Döhner et al., 2005 | |
| PCR & Direct Sequencing | 295 | 7.8 | USA | Brown et al., 2007 | ||
| WGS (1) Genotyping (187) | 188 | 23.9 | USA | Mardis et al., 2009 | ||
| Targeted Sequencing | 195 | 11.3 | Germany | Damm et al., 2011 | ||
| Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1000 | 29.2 | Germany | Grossmann et al., 2012 | ||
| WGS (50) & WES (150) | 200 | 27.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| PCR & Direct Sequencing | 206 | 4.0 | China | Liang et al., 2013 | ||
| PCR & Direct Sequencing | 216 | 4.2 | Argentina | Rubio et al., 2016 | ||
| WES (22) & Targeted Deep Sequencing (182) | 204 | 3.4 | Japan | Shiba et al., 2016 | ||
| DNA METHYLATION | ||||||
| DNMT3A | WGS (1) Targeted Sequencing (280) | 281 | 22.1 | USA | Ley et al., 2010 | |
| PCR & Direct Sequencing | 180 | 0 | USA | Ho et al., 2011 | ||
| PCR & Direct Sequencing | 195 | 1.0 | Germany | Thol et al., 2011 | ||
| PCR & Direct Sequencing | 206 | 1.2 | China | Liang et al., 2013 | ||
| WGS (50) & WES (150) | 200 | 26.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| Direct Sequencing | 71 | 24.0 | Canada | Shlush et al., 2014 | ||
| IDH1 | PCR & Direct Sequencing | 61 | 7.6 | Germany | Paschka et al., 2010 | |
| WGS (1) Genotyping (187) | 188 | 8.5 | USA | Mardis et al., 2009 | ||
| PCR & Direct Sequencing | 257 | 4.4 | USA | Ho et al., 2010 | ||
| PCR & Direct Sequencing | 274 | 0 | USA | Ho et al., 2010 | ||
| PCR & Direct Sequencing | 227 | 1.3 | USA | Andersson et al., 2011 | ||
| PCR & Direct Sequencing | 206 | 1.1 | China | Liang et al., 2013 | ||
| IDH2 | PCR & Direct Sequencing | 70 | 8.7 | Germany | Paschka et al., 2010 | |
| PCR & Direct Sequencing | 227 | 2.2 | USA | Andersson et al., 2011 | ||
| PCR & Direct Sequencing | 180 | 2.2 | USA | Ho et al., 2011 | ||
| PCR & Direct Sequencing | 206 | 0.6 | China | Liang et al., 2013 | ||
| IDH1 & IDH2 | PCR & Direct Sequencing | 459 | 4.0 | Germany | Damm et al., 2011 | |
| WGS (50) & WES (150) | 200 | 20.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| TET2 | PCR & Direct Sequencing | 169 | 6.5 | USA | Kutny et al., 2015 | |
| PCR & Direct Sequencing | 104 | 3.8 | Netherlands | Langemeijer et al., 2011 | ||
| Amplicon Deep Sequencing | 318 | 27.4 | Germany | Weissmann et al., 2012 | ||
| PCR & Direct Sequencing | 206 | 1.7 | China | Liang et al., 2013 | ||
| WGS (50) & WES (150) | 200 | 8.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| ACTIVATED SIGNALING PATHWAY | ||||||
| FLT3-ITD | PCR & Direct Sequencing | 160 | 32 | 21 | Netherlands | Cloos et al., 2006—Diagnosis Sample |
| 37 | 19 | Netherlands | Cloos et al., 2006—Relapse Sample | |||
| FLT3-ITD | Targeted sequencing | 195 | 12.8 | Germany | Thol et al., 2011 | |
| FLT3-ITD | Direct Ssequencing (190) & Amplicon Deep Sequencing (810) | 1000 | 15.9 | Germany | Grossmann et al., 2012 | |
| FLT3-ITD | PCR & Direct Sequencing | 206 | 15 | China | Liang et al., 2013 | |
| FLT3-TKD | PCR & Direct Sequencing | 206 | 7.4 | China | Liang et al., 2013 | |
| FLT3 | WGS (50) & WES (150) | 200 | 28.0 | USA | Cancer Genome Atlas Research, 2013 | |
| FLT3-ITD/FLT3-TKD | PCR & Direct Sequencing | 216 | 17.9 | Argentina | Rubio et al., 2016 | |
| FLT3-ITD | WES (22) and Targeted Deep Sequencing (182) | 204 | 10.8 | Japan | Shiba et al., 2016 | |
| NRAS | WGS(1) Genotyping (187) | 188 | 9.3 | USA | Mardis et al., 2009 | |
| NRAS | PCR & Direct Sequencing | 206 | 12.0 | China | Liang et al., 2013 | |
| K-RAS | PCR & Direct Sequencing | 206 | 6.9 | China | Liang et al., 2013 | |
| NRAS OR KRAS | WGS (50) & WES (150) | 200 | 12.0 | USA | Cancer Genome Atlas Research, 2013 | |
| NRAS | WES (22) and Targeted Deep Sequencing (182) | 204 | 12.7 | Japan | Shiba et al., 2016 | |
| K-RAS | WES (22) and Targeted Deep Sequencing (182) | 204 | 3.4 | Japan | Shiba et al., 2016 | |
| KIT | WGS (50) & WES (150) | 200 | 4.0 | USA | Cancer Genome Atlas Research, 2013 | |
| PCR & Direct Sequencing | 206 | 12.0 | China | Liang et al., 2013 | ||
| WES (22) and Targeted Deep Sequencing (182) | 204 | 20.1 | Japan | Shiba et al., 2016 | ||
| MYELOID TRANSCRIPTION FACTOR | ||||||
| CEBPA | Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1,000 | 7.5 | Germany | Grossmann et al., 2012 | |
| WGS (50) & WES (150) | 200 | 6.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| PCR & Direct Sequencing | 206 | 7.0 | China | Liang et al., 2013 | ||
| PCR & Direct Sequencing | 216 | 1.9 | Argentina | Rubio et al., 2016 | ||
| WES (22) and Targeted Deep Sequencing (182) | 204 | 11 | Japan | Shiba et al., 2016 | ||
| RUNX1 | PCR & Direct Sequencing | 945 | 5.6 | Germany | Gaidzik et al., 2011 | |
| Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1,000 | 17.9 | Germany | Grossmann et al., 2012 | ||
| WGS (50) & WES (150) | 200 | 10.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| PCR & Direct Sequencing | 206 | 1.3 | China | Liang et al., 2013 | ||
| PCR & Direct Sequencing | 178 | 5.6 | Iraq & jordan | Al-Kzayer et al., 2014 | ||
| CHROMATIN REMODELING | ||||||
| ASXL1 | Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1,000 | 15.4 | Germany | Grossmann et al., 2012 | |
| PCR & Direct Sequencing | 740 | 17.2 | Germany | Schnittger et al., 2012 | ||
| PCR & Direct Sequencing | 206 | 1.1 | China | Liang et al., 2013 | ||
| ASXL2 | WES (3) & Target Sequencing (110) | 35 | 25.7 | France | Micol et al., 2014 | |
| ASXL2 | WES (3) & Target Sequencing (110) | 75 | 21.3 | France | Micol et al., 2014 | |
| ASXL1/ASXL2 | WES (22) and Targeted Deep Sequencing (182) | 204 | 8.8 | Japan | Shiba et al., 2016 | |
| BCOR | WES (1), Amplicon Deep-Sequencing (200) & Direct Sequencing (353) | 553 | 3.8 | Germany (200) & italy (353) | Grossmann et al., 2011 | |
| WES (22) & Targeted Deep Sequencing (182) | 204 | 3.4 | Japan | Shiba et al., 2016 | ||
| MLL-PTD | Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1000 | 6.0 | Germany | Grossmann et al., 2012 | |
| PCR And Direct Sequencing | 206 | 1.9 | China | Liang et al., 2013 | ||
| EZH2 | WES (22) and Targeted Deep Sequencing (182) | 204 | 0.98 | Japan | Shiba et al., 2016 | |
| Direct Sequencing | 128 | 2.0 | USA | Khan et al., 2013 | ||
| COHESIN COMPLEX | ||||||
| RAD21, SMC3 & STAG2 | WES (22) and Targeted Deep Sequencing (182) | 204 | 8.3 | Japan | Shiba et al., 2016 | |
| SMC3 | WGS | 16 | USA | Ding et al., 2012 | ||
| TUMOUR SUPPRESSOR | ||||||
| TP53 | PCR & Direct Sequencing | 235 | 14 | Germany | Haferlach et al., 2008 | |
| Direct Sequencing (190) & Amplicon Deep Sequencing (810) | 1,000 | 11.5 | Germany | Grossmann et al., 2012 | ||
| WGS (50) & WES (150) | 200 | 8.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| PCR & Direct Sequencing | 206 | 1.1 | China | Liang et al., 2013 | ||
| PCR & Direct Sequencing | 67 | 7.8 | China | Kao et al., 2014 | ||
| WT1 | WGS | 24 | 12.5 | USA | Welch et al., 2012 | |
| WGS (50) & WES (150) | 200 | 6.0 | USA | Cancer Genome Atlas Research, 2013 | ||
| PCR & Direct Sequencing | 206 | 5.8 | China | Liang et al., 2013 | ||
| WES (22) and Targeted Deep Sequencing (182) | 204 | 7.8 | Japan | Shiba et al., 2016 | ||
| PHF6 | PCR & Direct Sequencing | 353 | 3 | USA | Van Vlierberghe et al., 2011 | |
| WGS | 24 | 8.3 | USA | Welch et al., 2012 | ||
| WGS | 16 | USA | Ding et al., 2012 | |||