Pancreas: Solid pseudopapillary tumour of the pancreas with t(11;22)(q24;q12) EWSR1/FLI1

2010-06-01   Jean-Loup Huret 

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

Cytogenetics

Cytogenetics morphological

A t(11;22)(q24;q12), accompanied with +8, was found in one case (Maitra et al., 2000).

Genes Involved and Proteins

Gene name

FLI1 (Friend leukemia virus integration 1)

Location

11q24.3

Protein description

From N-term to C-term: a 5 ETS domain, a Fli-1-specific transcriptional activation domain, and a 3 ETS transcriptional activation domain. Member of ETS transcription factor gene family. FLI1 binds to DNA in a sequence-specific manner.

Gene name

EWSR1 (Ewing sarcoma breakpoint region 1)

Location

22q12.2

Protein description

From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing.

Result of the chromosomal anomaly

Description

5 EWSR1 - 3 FLI1. EWSR1 exon 7 is fused in frame to FLI1 exon 6 (type 1 fusion).

Description

Fusion of the N terminal transactivation domain of EWSR1 to the ETS type DNA binding domain of FLI1.

Bibliography

Pubmed IDLast YearTitleAuthors
110003392000Detection of t(11;22)(q24;q12) translocation and EWS-FLI-1 fusion transcript in a case of solid pseudopapillary tumor of the pancreas.Maitra A et al
202221632010Solid pseudopapillary tumor of the pancreas: a review of 553 cases in Chinese literature.Yu PF et al

Citation

Jean-Loup Huret

Pancreas: Solid pseudopapillary tumour of the pancreas with t(11;22)(q24;q12) EWSR1/FLI1

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6284/pancreas-solid-pseudopapillary-tumour-of-the-pancreas-with-t(11;22)(q24;q12)-ewsr1-fli1