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Soft Tissues: Inflammatory myofibroblastic tumor with t(2;2)(p23;q13) EWSR1/PBX1

Written2003-08Jean-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 C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 8825/1 Inflammatory myofibroblastic tumour
Atlas_Id 5214
Phylum Soft Tissue Tumors:Fibroblastic/Myofibroblastic tumors:Inflammatory myofibroblastic tumor:t(2;2)(p23;q13)

Clinics and Pathology

Disease Inflammatory myofibroblastic tumors (IMT)
Clinics rare soft tissue tumour found in children and young adults
Pathology spindle cell proliferation with myofibroblastic differenciation and an inflammatory infiltrate; staining of ALK-positive cases, representing 60% of IMT cases, is usually confined to the cytoplasm, but it showed a nuclear membran pattern in one of the two t(2;2) available cases
Prognosis Inflammatory myofibroblastic tumors have a low malignant potential and good prognosis; however, the 2 cases with a t(2;2) showed (relatively) aggressive clinical course with tumor recurrence and round cell transformation

Genes involved and Proteins

Gene Name ALK
Location 2p23
Protein 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor

Gene Name RANBP2
Location 2q13
Protein 3224 amino acids; nuclear pore protein involved in nuclear export

Result of the chromosomal anomaly

Hybrid Gene
Description 5' RANBP2 - 3' ALK
Fusion Protein
Description 1430 amino acids; 6867 N-term amino acid from RANBP2, fused to the 562 C-term amino acids from ALK (i.e. the leucine-rich domain, including the leucine zipper, of RANBP2 and the entire cytoplasmic portion of ALK with the tyrosine kinase domain).
Oncogenesis the leucine zipper of RANBP2 could mediate oligomerization of RANBP2-ALK
  

Bibliography

Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.
Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ
Cancer research. 1999 ; 59 (12) : 2776-2780.
PMID 10383129
 
Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms.
Ladanyi M
The American journal of pathology. 2000 ; 157 (2) : 341-345.
PMID 10934137
 
Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor.
Ma Z, Hill DA, Collins MH, Morris SW, Sumegi J, Zhou M, Zuppan C, Bridge JA
Genes, chromosomes & cancer. 2003 ; 37 (1) : 98-105.
PMID 12661011
 
Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.
Morris SW, Xue L, Ma Z, Kinney MC
British journal of haematology. 2001 ; 113 (2) : 275-295.
PMID 11380391
 

Citation

This paper should be referenced as such :
Huret, JL
t(2;2)(p23;q13)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):289-289.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0202p23q13ID5214.html


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

Genes ALK

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;2)(p23;q13) RANBP2/ALK

External links

Mitelman database t(2;2)(p23;q13) RANBP2/ALK [Case List]    t(2;2)(p23;q13) RANBP2/ALK [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionRANBP2 (2q12.3) ALK (2p23.2)    [fusion415] [fusion416] [fusion417] [fusion418]
Mitelman databaseRANBP2/ALK[MCList]    RANBP2 (2q12.3) ALK (2p23.2)   inv(2)(p23q13)
TICdbRANBP2/ALK    RANBP2 (2q12.3) ALK (2p23.2)
 
Disease databaseSoft Tissues: Inflammatory myofibroblastic tumor with t(2;2)(p23;q13) EWSR1/PBX1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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