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. 2020 Mar 3;35(1):47–61. doi: 10.1038/s41375-020-0762-8

Table 1.

Characteristics of AML samples analyzed by RNAseq.

Characteristics No. of AML
Number of patients 100
Age (median, years) 53 (22–77)
Gender
  Male 55
  Female 45
WHO diagnosis
  AML with t(9;11); KMT2A-MLLT3a 4
  AML with inv(16); CBFB-MYH11a 10
  AML with t(8;21); RUNX1-RUNX1T1a 3
  Acute promyelocytic leukemia with t(15;17); PML-RARAa 2
  AML with inv(3); GATA2, MECOMa 2
  AML with t(6;9); DEK-NUP214 1
  AML with mutated NPM1b 35
  Acute monoblastic/monocytic leukemia 11
  AML with myelodysplasia-related changes 13
  AML NOS with maturati 9
  AML NOS with minimal differentiation 1
  AML NOS without maturation 12
  Acute myelomonocytic leukemia 3
  Therapy-related AML 2
AML
  Primary 95
  Relapse 5
Source
  Bone marrow (BM) 78
  Peripheral blood (PB) 22
Blast percentage (median) 75 (13–99)
Karyotypec
  Normal karyotype 45
  Complex karyotype 8
 Abnormal karyotype 37
  No metaphases 2
 FLT3-ITDb 34

aRecurrent fusion transcripts CBFB-MYH11 inv(16)(p13q22), KMT2A-MLLT3 t(9;11)(p21;q23), RUNX1-RUNX1T1 t(8;21)(q22;q22), and PML-RARA t(15;17)(q24;q21) as well as chromosomal translocation GATA2, MECOM inv(3)(q21q26) were detected by fluorescence in situ hybridization (FISH) on 200 interphases per probe set.

bGenotyping for NPM1 and FLT3-ITD mutations was performed by routine diagnostic PCR on genomic DNA followed by electrophoretic fragment size analysis.

cKaryotype was determined by cytogenetics on at least 20 metaphases per case.