| Written | 2010-06 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:25:17 CEST 2017 |
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