t(7;21)(p22;q22) RUNX1/USP42

2016-04-01   Carlos A. Tirado 

1.UCLA Pathology and Laboratory Medicine, Los Angeles, CA. ctirado@mednet.ucla.edu
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Acute myeloid leukemia M0 (M0 AML)

Phenotype stem cell origin



Three cases to date; a 7-year old male, a 32-year old male, and a 52-year old female


The 7-year old male patient relapsed; however, he is still alive,with a bone marrow graft, 10 years after diagnosis. The 32-year old male died of alternative causes shortly after diagnosis. The female patient did not relapse, and is still alive.


Acute myeloid leukemia M4 (M4-AML)

Phenotype stem cell origin



Three cases to date, with the possibility of a fourth. Excluding fourth: 2 males (ages 39 and 13), and 1 female (age 57). The fourth case was a 54 year old male with either M4 or M5 subtype.


39-year old male is dead from alternative causes, no relapse; 57-year old female and 13-year old male are both alive, with no evidence of relapse.


Acute myeloid leukemia M5 (M5-AML)

Phenotype stem cell origin



Two cases with the possibility of a third (overlap with aforementioned M4 cases). First case is a 33-year old male; second case is a 68-year old female. The third case is, as mentioned, a 54-year old male.


The 33-year old male had no relapse and is still alive. The 68-year old female is dead, 5 years after diagnosis. The 54-year old male is, as mentioned, dead 3 months after diagnosis.

Genes Involved and Proteins

Gene name
USP42 (ubiquitin specific peptidase 42)
Protein description
USP42 (ubiquitin specific protease 42), belongs to the ubiquitin specific protease family. Ubiquitins are highly conserved proteins. Ubiquitins target proteins for degradation in the proteasome.
Some USPs, however, act in the opposite reaction. These ubiquitin specific proteases (cysteine proteases) are also called deubiquitinating enzymes. They cleave ubiquitin from ubiquitin-conjugated target proteins and may lead to protein stabilization.
Usp42 can cleave ubiquitin from ubiquitinated substrates. Usp42 seems to be a deubiquitinating enzyme.
It may play an important role in mouse embryogenesis.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Protein description
Transcription factor (activator) for various hematopoietic-specific genes, which expression is limited to hematopoetic stem cells, and endothelial cells and mesenchymal cells in the embryo; core binding factor family member which forms heterodimers with CBFB; binds to the core site 5 PyGPyGGTPy 3 of promotors and enhancers

Result of the Chromosomal Anomaly


5 RUNX1- 3 UPS42


Pubmed IDLast YearTitleAuthors
200641522010Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.Foster N et al
213192592011Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia.Giguère A et al
228679972012A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity.Jeandidier E et al
40122751985Sex and age related differences in trace element concentrations in hair.Gordon GF et al
169043852007The expression of Usp42 during embryogenesis and spermatogenesis in mouse.Kim YK et al
163578312006A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42.Paulsson K et al


Fusion gene

RUNX1/USP42 RUNX1 (21q22.12) USP42 (7p22.1) M t(7;21)(p22;q22)|RUNX1/USP42 RUNX1 (21q22.12) USP42 (7p22.1) TIC


Carlos A. Tirado

t(7;21)(p22;q22) RUNX1/USP42

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1449/t(7;21)(p22;q22)

Historical Card

2007-10-01 t(7;21)(p22;q22) RUNX1/USP42 by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

External Links