Blood Research

Frequency and spectra of chromosomal aberrations according to the type of acute leukemia and detection method in all patients using conventional cytogenetics, including FISH.

Chromosomal aberration by conventional cytogenetics Fusion transcript AML ALL MPAL Total



K F K F K F
t(15;17)(q24;q21) PML/RARA 54 13 67
t(9;22)(q34;q11) BCR/ABL1 3 4 22 8 4 41
t(8;21)(q22;q22) RUNX1/RUNX1T1 36 36
11q23
t(4;11)(q21;q23) KMT2A /AFF1 1 1
t(6;11)(q27;q23) KMT2A /AFDN 5 5
t(11;19)(q23;p13.3) KMT2A /ELL 0
t(9;11)(p22;q23) KMT2A /MLLT3 6 1 7
t(10;11)(p12;q23) KMT2A /MLLT10 4 1 5
t(11;19)(q23;p13.3) KMT2A /MLLT1 1 1
t(12;21)(p13;q22) ETV6/RUNX1 5 7 12
t(1;19)(q23;p13) TCF3/PBX1 1 1
inv(16)(p13;q22) CBFB/MYH11 21 1 22
t(9;9)(q34;q34) SET/NUP214 0
del(1p32) STIL/TAL1 0
t(16;21)(p11;q22) FUS/ERG 2 2
t(6;9)(p23;q34) DEK/NUP214 2 2
Extra-aberrationa) 113 5 43 7 2 170

Positive cases excluding extra-aberration 151 46 5 202
Positive cases 269 96 7 372

Total cases 521 187 9 717
Cases of ‘NT’ 15 12 0 27
Cases excluding ‘NT’ 506 175 9 690
Positive cases excluding ‘extra-aberration’ & ‘NT’ (%) 30 26 56 29
Positive cases excluding ‘NT’ (%) 53 55 78 54

a)Extra-aberrations are the numerical abnormalities or structural rearrangements, excluding 28 fusion transcripts of the multiplex RT-PCR system.

Abbreviations: F, fluorescence in situ hybridization; K, karyotype; NT, not tested.

Blood Res 2020;55:225~245 https://doi.org/10.5045/br.2020.2020255
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