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

Written2010-06Jean-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 C250-C254,C257-C259 PANCREAS
ICD-Morpho 8452/3 Solid pseudopapillary carcinoma
Atlas_Id 6284
Phylum Digestive organs: Pancreas::Pseudopapillary tumor

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
 

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. 2011;15(3):302-302.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12PseudopapID6284.html


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

Genes EWSR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(q24;q12) EWSR1/FLI1

External links

Mitelman database t(11;22)(q24;q12) EWSR1/FLI1 [Case List]    t(11;22)(q24;q12) EWSR1/FLI1 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C25) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionEWSR1 (22q12.2) FLI1 (11q24.3)    [fusion1302] [fusion1303] [fusion165] [fusion166] [fusion167] [fusion168] [fusion169] [fusion170] [fusion171] [fusion172] [fusion173] [fusion174] [fusion175] [fusion176] [fusion177] [fusion178] [fusion179] [fusion180] [fusion181] [fusion182] [fusion183] [fusion184] [fusion185] [fusion204] [fusion205] [fusion227] [fusion228]
Mitelman databaseEWSR1/FLI1[MCList]    EWSR1 (22q12.2) FLI1 (11q24.3)   ins(11;22)(q24;q12q12)
TICdbEWSR1/FLI1    EWSR1 (22q12.2) FLI1 (11q24.3)
 
Disease databasePancreas: Solid pseudopapillary tumour of the pancreas with t(11;22)(q24;q12) EWSR1/FLI1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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