SELECTED CHROMOSOMAL TRANSLOCATIONS IN AML


Translocations involving core binding factor (CBF)

Translocation Genes Proteins Comments
t(8;21)(q22;q22) AML1 

ETO

transcription factor

probable transcription factor

40% of M2 AML
t(3;21)(q26;q22) AML1

EVI1

transcription factor

transcription factor

 
t(3;21)(q26;q22) AML1

EAP

transcription factor

ribosomal protein

 
t(3;21)(q26;q22) AML1

MDS1

transcription factor

RIZ-related

 
inv(16)(q13;q11) CBFb

MYH11

heterodimeric partner of AML1

smooth muscle myosin heavy chain

80% of M4Eo AML

Translocations involving retinoic acid receptor a (RARa )

Translocation Genes Proteins Comments
t(15;17)(q21;q11) PML1

RARa

zinc finger

nuclear hormone receptor

98% of M3 AML
t(11;17)(q23;q11) PLZF

RARa

transcriptional repressor

nuclear hormone receptor

1% of M3 AML
t(5;17)(q31;q11) NPM

RARa

nucleolar phosphoprotein

nuclear hormone receptor

1% of M3 AML
t(11;17)(q13;q11) NUMA

RARa

mitotic spindle component

nuclear hormone receptor

 

Translocations involving transcriptional co-activators

Translocation Genes Proteins
t(11;16)(q23;p13.3) MLL

CBP

trithorax homology

histone acetylase

t(11;22)(q23;q13) MLL

p300

thrithorax homology

histone acetylase

t(8;16)(p23;p13) MOZ

CBP

histone acetylase

histone acetylase

inv(8)(p11;q13) MOZ

TIF2

histone acetylase

transcriptional co-activator

Source: 1999 American Society of Hematology Education Program Book