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

Written1998-02Christine Pérot
Laboratoire de Cytogenetique, Hopital Saint-Antoine, Paris, France
Updated2005-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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

Cytogenetics

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 Name FUS
Location 16p11
Protein RNA binding protein; member of the TET family, like EWSR1
Gene Name ERG
Location 21q22
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
  

Bibliography

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[Acute monoblastic leukemia (M5a) with dysmegakaryocytopoiesis associated with t(16;21) (p11;q22)]
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Citation

This paper should be referenced as such :
Huret, JL
t(16;21)(p11;q22)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):36-38.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1621ID1037.html
History of this paper:
Pérot, C. t(16;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):62-62.
http://documents.irevues.inist.fr/bitstream/handle/2042/37420/02-1998-t1621.pdf


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

Genes ERG EWSR1 FUS

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) [Case List]    t(16;21)(p11;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseFUS/ERG [MCList]  FUS (16p11.2) ERG (21q22.2)
TICdbFUS/ERG  FUS (16p11.2) ERG (21q22.2)
 
Disease databaset(16;21)(p11;q22) FUS/ERG
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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