t(16;21)(p11;q22) FUS/ERG

2005-01-01   Jean-Loup Huret 

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

Clinics and Pathology


de novo acute myeloid leukemia (AML); to be noted is one case of chronic myelogenous leukemia (CML) -blast crisis.

Phenotype stem cell origin

AML cases: mainly M1, M2, M4, M5a, M5b, or M7 AML; may be preceded by a myelodysplastic syndrome (MDS).


about 40 reported cases, mainly found in young adults; children cases are described; median age is about 30 yrs; balanced sex ratio


blood data: anemia, thrombocytopenia, mild hyperleucocytosis; with high monocytic cell count at times


myelocytic and monocytoid features are often present; eosinophils in the bone marrow are sometimes abnormal and/or elevated; erythrophagocytosis may be found


seems poor: complete remission may not be achieved; there is high incidence of relapse within a year and a median of survival is about 22 months (cases herein reviewed)


Ewing tumours


t(16;21)(p11;q22) has been found in rare cases of Ewing tumours, a paediatric neoplasm with small round-cells derived from neural crests cells usually associated with translocations involving EWSR1


Ewing tumours are usually associated with a t(11;22)(q24;q12) with 5 EWSR1 - 3 FLI1 involvement, less often associated with t(21;22)(q22;q12) with 5 EWSR1 - 3 ERG involvement, rarely associated with t(2;22)(q36; q12) (5 EWSR1 - 3 FEV) or with t(17;22)(q21;q12) (5 EWSR1-3 ETV4)


recent treatments have improved the prognosis of Ewings tumours. The prognosis is mainly determined by the presence of metastases at the time of diagnosis

Genes Involved and Proteins

Gene name
FUS (fusion involved in t (12;16) in malignant liposarcoma)
Protein description
RNA binding protein; member of the TET family, like EWSR1
Gene name
ERG (v-ets erythroblastosis virus E26 oncogene like (avian))
Protein description
ETS transcription factor

Result of the Chromosomal Anomaly


5 FUS including exons 1 to 6, 7 or 8 - 3 ERG from exon 7, 8 or 9 to C-term.N-term FUS transactivation domain fused to the C-term DNA binding ETS domain of ERG


seems to act as a transcriptional activator


Pubmed IDLast YearTitleAuthors
23576841990Acute nonlymphocytic leukemia with t(16;21)Berkowicz M et al
120913562002Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH).Dastugue N et al
16065691992t(16;21) in a Ph positive CML.Ferro MR et al
95498301997Detection of minimal residual disease in cerebro-spinal fluid of a patient with acute myelogenous leukemia with t(16;21)(p11;q22) translocation by reverse transcriptase-polymerase chain reaction.Harigae H et al
146549492004Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints.Heller A et al
87198981995Acute non-lymphoblastic leukaemia with t(16;21): case report with a review of the literature.Hiyoshi M et al
77947651995Establishment and characterization of IRTA17 and IRTA21, two novel acute non-lymphocytic leukaemia cell lines with t(16;21) translocation.Hiyoshi M et al
104464931999Hemophagocytosis by leukemic blasts in a case of acute megakaryoblastic leukemia with t(16;21)(p11;q22).Imashuku S et al
92425521997Consistent detection of TLS/FUS-ERG chimeric transcripts in acute myeloid leukemia with t(16;21)(p11;q22) and identification of a novel transcript.Kong XT et al
20653161991Translocation (16;21)(p11;q22) in acute monoblastic leukemia with erythrophagocytosis.Marosi C et al
84531031993The 8;21 chromosome translocation in acute myeloid leukemia is always detectable by molecular analysis using AML1.Maseki N et al
38602821985Acute nonlymphoblastic leukemia with bone marrow eosinophilia and structural anomaly of chromosome 16.Mecucci C et al
31642431988Translocation (8;21) and its variants in acute nonlymphocytic leukemia. The relative importance of chromosomes 8 and 21 to the genesis of the disease.Minamihisamatsu M et al
20366421991t(16;21)(p11.2;q22): a recurrent primary rearrangement in ANLL.Morgan R et al
82425971993Acute non-lymphocytic leukemia with t(16;21).Nobbs MC et al
80391661994Translocation (16;21)(p11;q22) in acute nonlymphocytic leukemia.Okada K et al
106346492000Acute myeloid leukemia possessing jumping translocation is related to highly elevated levels of EAT/mcl-1, a Bcl-2 related gene with anti-apoptotic functions.Okita H et al
75335291994Fusion of the FUS gene with ERG in acute myeloid leukemia with t(16;21)(p11;q22).Panagopoulos I et al
105720831999Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821.Raimondi SC et al
2125791199016;21 translocation in acute nonlymphocytic leukemia with abnormal eosinophils: a unique subtype.Sadamori N et al
81391141994[Acute monoblastic leukemia (M5a) with dysmegakaryocytopoiesis associated with t(16;21) (p11;q22)].Satoh K et al
75172111994HLA-DR-, CD33+, CD56+, CD16- myeloid/natural killer cell acute leukemia: a previously unrecognized form of acute leukemia potentially misdiagnosed as French-American-British acute myeloid leukemia-M3.Scott AA et al
103541361999Myeloid differentiation antigen and cytokine receptor expression on acute myelocytic leukaemia cells with t(16;21)(p11;q22): frequent expression of CD56 and interleukin-2 receptor alpha chain.Shikami M et al
129076332003FUS/ERG gene fusions in Ewing's tumors.Shing DC et al
95921831998Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia.Tamura S et al


Fusion gene

FUS/ERG FUS (16p11.2) ERG (21q22.2) M t(16;21)(p11;q22) t(16;21;22)(p11;q22;p11)|FUS/ERG FUS (16p11.2) ERG (21q22.2) TIC
Atlas Image
t(16;21)(p11;q22) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.


Jean-Loup Huret

t(16;21)(p11;q22) FUS/ERG

Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1037/t(16;21)(p11;q22)-fus-erg

Historical Card

1998-02-01 t(16;21)(p11;q22) FUS/ERG by  Christine Pérot 

External Links