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

Written2005-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1998-02Christine Pérot
Laboratoire de Cytogenetique, Hopital Saint-Antoine, Paris, 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 1037
  t(16;21)(p11;q22) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Clinics and Pathology

Disease de novo acute myeloid leukemia (AML); to be noted is one case of chronic myelogenous leukemia (CML) -blast crisis.
Phenotype / cell stem origin AML cases: mainly M1, M2, M4, M5a, M5b, or M7 AML; may be preceded by a myelodysplastic syndrome (MDS).
Epidemiology about 40 reported cases, mainly found in young adults; children cases are described; median age is about 30 yrs; balanced sex ratio
Clinics blood data: anemia, thrombocytopenia, mild hyperleucocytosis; with high monocytic cell count at times
Cytology myelocytic and monocytoid features are often present; eosinophils in the bone marrow are sometimes abnormal and/or elevated; erythrophagocytosis may be found
Prognosis 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)

Disease Ewing tumours
Note 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
Cytogenetics 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)
Prognosis recent treatments have improved the prognosis of Ewing's tumours. The prognosis is mainly determined by the presence of metastases at the time of diagnosis


Additional anomalies AML cases: found solely in about 60% of cases in at least a subclone; associated with +10, +8, or de(9q)/-9 in about 10% of cases each

Genes involved and Proteins

Gene NameFUS (fusion involved in t (12;16) in malignant liposarcoma)
Location 16p11.2
Protein RNA binding protein; member of the TET family, like EWSR1
Gene NameERG (v-ets erythroblastosis virus E26 oncogene like (avian))
Location 21q22.2
Protein ETS transcription factor

Result of the chromosomal anomaly

Hybrid gene
Description 5' FUS including exons 1 to 6, 7 or 8 - 3' ERG from exon 7, 8 or 9 to C-term.
Fusion Protein
Description N-term FUS transactivation domain fused to the C-term DNA binding ETS domain of ERG
Oncogenesis seems to act as a transcriptional activator


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This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):36-38.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Pérot, C. t(16;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):62-62.

Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(16;21)(p11;q22) FUS/ERG

External links

FUS (16p11.2) ERG (21q22.2)

FUS (16p11.2) ERG (21q22.2)

Mitelman databaset(16;21)(p11;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseFUS::ERG [MCList]  FUS (16p11.2) ERG (21q22.2)
REVIEW articlesautomatic search in PubMed
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indexed on : Fri Oct 8 16:37:30 CEST 2021

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