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

Disease

Acute myeloid leukemia M0 (M0 AML)

Phenotype stem cell origin

M0 AML

Epidemiology

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

Evolution

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.

Disease

Acute myeloid leukemia M4 (M4-AML)

Phenotype stem cell origin

M4-AML

Epidemiology

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.

Evolution

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.

Disease

Acute myeloid leukemia M5 (M5-AML)

Phenotype stem cell origin

M5/M5a-AML

Epidemiology

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.

Evolution

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)
Location
7p22.1
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))
Location
21q22.12
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

Description

5 RUNX1- 3 UPS42

Highly cited references

Pubmed IDYearTitleCitations
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.10
238771992013Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion.9
200641522010Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.9
213192592011Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia.7
317567772020Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.4
246736272014Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.4
307066252019Pediatric acute myeloid leukemia with t(7;21)(p22;q22).2
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0
349742912022Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature.0

Article Bibliography

Pubmed IDLast YearTitleAuthors

Summary

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

Citation

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/gene-fusions-explorer/js/lib/deep-insight-explorer/

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