Skip to main content

Table 1 Mutations identified in Acute Myeloid Leukemia by different approaches of Next Generation Sequencing

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)

 
  1. Abbreviations: CN-AML: cytogenetically normal AML; CBF: core binding factor; SNV: single nucleotide variant; CN-AML (NPM-FLT-CEBPA-MLL-): CN-AML without mutation in NPM1, FLT3, CEBPA and MLL; BiCEBPA+: biallelic CEBPAs