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

Written2016-04Carlos A. Tirado
UCLA Pathology and Laboratory Medicine, Los Angeles, CA.
This article is an update of :
2007-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1449

Clinics and Pathology

Disease Acute myeloid leukemia M0 (M0 AML)
Phenotype / cell stem 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 / cell stem 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 / cell stem 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 NameUSP42 (ubiquitin specific peptidase 42)
Location 7p22.1
Protein 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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Protein 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

Hybrid gene
Description 5' RUNX1- 3' UPS42

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.
Case Report A new case of Acute Myeloid Leukemia with semi-cryptic t(7;21)(p22;q22)
Case Report AML with t(7;21)(p22;q22) and 5q abnormality, a case report


Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myeldoysplastic syndrome and acute myeloid leukemia
Foster N, Paulsson K, Sales M, Cunningham J, Groves M, O'Connor N, Begum S, Stubbs T, McMullan C, Griffiths M, Pratt N, Tauro S
British Journal of Hematology: BJH. 2010; 148: 938-943.
PMID 20064152
Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia.
Giguere A, Hebert J
Genes, Chromosomes, and Cancer: 2011; 50: 228-238.
PMID 21319259
A 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, Gervais C, Radford-Weiss I, Zink E, Gangneux C, Eischen A, Cecile Galoisy A, Helias C, Dano L, Cammarata O, Jung G, Harzallah I, Guerin E, Martzolff L, Drenou B, Lioure B, Tancredi C, Rimelen V, Mauvieux L
Cancer Genetics: 2012; 205: 365-372.
PMID 22867997
Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review.
Ji J, Loo E, Pullarkat S, Yang L, Tirado C
Experimental Hematology and Oncology. 2014; 3:8.
PMID 4012275
The expression of Usp42 during embryogenesis and spermatogenesis in mouse.
Kim YK, Kim YS, Yoo KJ, Lee HJ, Lee DR, Yeo CY, Baek KH
Gene expression patterns : GEP. 2007 ; 7 (1-2) : 143-148.
PMID 16904385
A 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, Béká AN, Olofsson T, Mitelman F, Johansson B, Panagopoulos I
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 224-229.
PMID 16357831


This paper should be referenced as such :
Carlos A Tirado
t(7;21)(p22;q22) RUNX1/USP42
Atlas Genet Cytogenet Oncol Haematol. 2017;21(1):23-24.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(7;21)(p22;q22). Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):456-456.

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes SKI

Translocations implicated (Data extracted from papers in the Atlas)

 t(7;21)(p22;q22) RUNX1/USP42

External links

RUNX1 (21q22.12) USP42 (7p22.1)

RUNX1 (21q22.12) USP42 (7p22.1)

Mitelman databaset(7;21)(p22;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1::USP42 [MCList]  RUNX1 (21q22.12) USP42 (7p22.1)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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