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Soft Tissues: Ewing's tumors::Primitive neurectodermal tumor with 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-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 9364/3 9260/3 Peripheral neuroectodermal tumor
Atlas_Id 5329
Phylum Soft Tissues::Ewing sarcoma
WHO/OMS Classification Soft Tissues

Clinics and Pathology

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


Cytogenetics Molecular 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
Soft Tissues: Ewing's tumors::Primitive neurectodermal tumor with t(16;21)(p11;q22) FUS/ER
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :
History of this paper:
Huret, JL. t(16;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):36-38.

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

Genes EWSR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(16;21)(p11;q22) FUS/ERG

External links

Mitelman database t(16;21)(p11;q22) [CaseList]     t(16;21)(p11;q22) [Transloc - MCList]   FUS/ERG Fusion - MCList]
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseFUS/ERG[MCList]    FUS (16p11.2) ERG (21q22.2)   t(16;21)(p11;q22)
TICdbFUS/ERG    FUS (16p11.2) ERG (21q22.2)
Disease databaseSoft Tissues: Ewing's tumors::Primitive neurectodermal tumor with t(16;21)(p11;q22) FUS/ERG
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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