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t(11;22)(q24;q12) in solid pseudopapillary tumour of the pancreas

Clinics and Pathology

Disease Solid pseudopapillary tumour of the pancreas is a rare epithelial tumour of low malignancy, typically occuring in young female patients (mean age 27 years, sex ratio is 1 male to 8 or 9 female patients). It accounts for 1% of all pancreatic tumours. It is a encapsulated lesion with well-defined borders, with about 15% of cases demonstrating malignant behaviour with recurrence and metastasis (Yu et al., 2010).

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
Location 11q24
Protein 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
Location 22q12
Protein 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

Hybrid Gene
Description 5' EWSR1 - 3' FLI1. EWSR1 exon 7 is fused in frame to FLI1 exon 6 (type 1 fusion).
Fusion Protein
Description Fusion of the N terminal transactivation domain of EWSR1 to the ETS type DNA binding domain of FLI1.
  

Bibliography

Detection 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, Weinberg AG, Schneider N, Patterson K.
Pediatr Dev Pathol. 2000 Nov-Dec;3(6):603-5.
PMID 11000339
 
Solid pseudopapillary tumor of the pancreas: a review of 553 cases in Chinese literature.
Yu PF, Hu ZH, Wang XB, Guo JM, Cheng XD, Zhang YL, Xu Q.
World J Gastroenterol. 2010 Mar 14;16(10):1209-14.
PMID 20222163
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic se arch in PubMed

Contributor(s)

Written06-2010Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Citation

This paper should be referenced as such :
Huret JL . t(11;22)(q24;q12) in solid pseudopapillary tumour of the pancreas. Atlas Genet Cytogenet Oncol Haematol. June 2010 .
URL : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12PseudopapID6284.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/44991/06-2010-t1122q24q12PseudopapID6284.pdf   [ Bibliographic record ]

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