Pancreas: Solid pseudopapillary tumour of the pancreas with t(11;22)(q24;q12) EWSR1/FLI1
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
(Note : for Links provided by Atlas : click)
| Written | 2010-06 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
(Note : for Links provided by Atlas : click)
1. Identity
| ICD-Topo | C250-C254,C257-C259 PANCREAS |
| ICD-Morpho | 8452/3 Solid pseudopapillary carcinoma |
| Atlas_Id | 6284 |
| Phylum | Digestive organs: Pancreas::Pseudopapillary tumor |
| WHO/OMS Classification | Digestive organs |
2. 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). |
3. Cytogenetics
| Cytogenetics Morphological | A t(11;22)(q24;q12), accompanied with +8, was found in one case (Maitra et al., 2000). |
4. Genes involved and Proteins
| Gene Name | FLI1 (Friend leukemia virus integration 1) |
| Location | 11q24.3 |
| 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 (Ewing sarcoma breakpoint region 1) |
| Location | 22q12.2 |
| 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. |
5. 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. |
6. 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 |
7. 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.usal.es/classic/Tumors/t1122q24q12PseudopapID6284.html |
8. Translocations implicated (Data extracted from papers in the Atlas)
9. External links
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 28 16:26:33 CET 2018 |
For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.