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Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor.

Panagopoulos, Ioannis LU ; Nilsson, Therese LU ; Domanski, Henryk LU ; Isaksson, Margareth LU ; Lindblom, Pia LU ; Mertens, Fredrik LU and Mandahl, Nils LU (2006) In International Journal of Cancer 118(5). p.1181-1186
Abstract
Inflammatory myofibroblastic tumor (IMT) is a neoplasm composed of myofibroblastic spindle cells and infiltrating inflammatory cells. Cytogenetic analyses have revealed that a subgroup of IMT, in particular among children and young adults, harbors clonal chromosomal rearrangements involving chromosome band 2p23. Further, molecular genetic studies have shown that these rearrangements target the ALK gene, serving as the 3'-partner in fusion genes with various translocation partners. In the present study, we describe the finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man. G-band analysis revealed a translocation t(2;4)(p23;q21) and subsequent fluorescence in situ hybridization with locus-specific probes... (More)
Inflammatory myofibroblastic tumor (IMT) is a neoplasm composed of myofibroblastic spindle cells and infiltrating inflammatory cells. Cytogenetic analyses have revealed that a subgroup of IMT, in particular among children and young adults, harbors clonal chromosomal rearrangements involving chromosome band 2p23. Further, molecular genetic studies have shown that these rearrangements target the ALK gene, serving as the 3'-partner in fusion genes with various translocation partners. In the present study, we describe the finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man. G-band analysis revealed a translocation t(2;4)(p23;q21) and subsequent fluorescence in situ hybridization with locus-specific probes strongly indicated disruption of the ALK locus on, chromosome 2. Immunostaining with monoclonal mouse anti-human CD246 ALK Protein showed diffuse cytoplasmic positivity. Using reverse primers for the ALK-gene, we could, by 5'-RACE methodology, amplify a single 1.2 kb fragment. Sequence analysis showed that the fragment was a hybrid cDNA product in which nt 3012 of SEC31L1 (NM 016211), located in band 4q21, was fused in-frame to nt 4080 of A (L) over barK (NM 004304). RT-PCR with two sets of primer pairs specific for SE (C) over bar 31L1 and ALK amplified two transcripts, which at sequencing corresponded to two types of chimeric SEC31L1/ALK transcripts. In the long, type I, transcript nt 3012 of SEC31L1 (NM 016211) was fused in-frame to nt 4080 of ALK. In the short, type II, transcript nt 2670 of SEC31L1 was fused in-frame to nt 4080 of ALK. Genomic PCR and subsequent sequencing showed that the breakpoints were located in intron 23 of SEC31L1 and intron 20 of ALK. (c) 2005 Wiley-Liss, Inc. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ALK gene fusion, SEC31L1, myofibroblastic tumor
in
International Journal of Cancer
volume
118
issue
5
pages
1181 - 1186
publisher
John Wiley and Sons
external identifiers
  • wos:000235056100014
  • pmid:16161041
  • scopus:31844448139
ISSN
0020-7136
DOI
10.1002/ijc.21490
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Surgery (Lund) (013009000), Pathology, (Lund) (013030000), Division of Clinical Genetics (013022003)
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2f1bf75c-3b9d-415a-a0a6-906b748b772b (old id 143681)
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16161041&dopt=Abstract
date added to LUP
2016-04-01 11:44:40
date last changed
2021-10-06 02:03:06
@article{2f1bf75c-3b9d-415a-a0a6-906b748b772b,
  abstract     = {Inflammatory myofibroblastic tumor (IMT) is a neoplasm composed of myofibroblastic spindle cells and infiltrating inflammatory cells. Cytogenetic analyses have revealed that a subgroup of IMT, in particular among children and young adults, harbors clonal chromosomal rearrangements involving chromosome band 2p23. Further, molecular genetic studies have shown that these rearrangements target the ALK gene, serving as the 3'-partner in fusion genes with various translocation partners. In the present study, we describe the finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man. G-band analysis revealed a translocation t(2;4)(p23;q21) and subsequent fluorescence in situ hybridization with locus-specific probes strongly indicated disruption of the ALK locus on, chromosome 2. Immunostaining with monoclonal mouse anti-human CD246 ALK Protein showed diffuse cytoplasmic positivity. Using reverse primers for the ALK-gene, we could, by 5'-RACE methodology, amplify a single 1.2 kb fragment. Sequence analysis showed that the fragment was a hybrid cDNA product in which nt 3012 of SEC31L1 (NM 016211), located in band 4q21, was fused in-frame to nt 4080 of A (L) over barK (NM 004304). RT-PCR with two sets of primer pairs specific for SE (C) over bar 31L1 and ALK amplified two transcripts, which at sequencing corresponded to two types of chimeric SEC31L1/ALK transcripts. In the long, type I, transcript nt 3012 of SEC31L1 (NM 016211) was fused in-frame to nt 4080 of ALK. In the short, type II, transcript nt 2670 of SEC31L1 was fused in-frame to nt 4080 of ALK. Genomic PCR and subsequent sequencing showed that the breakpoints were located in intron 23 of SEC31L1 and intron 20 of ALK. (c) 2005 Wiley-Liss, Inc.},
  author       = {Panagopoulos, Ioannis and Nilsson, Therese and Domanski, Henryk and Isaksson, Margareth and Lindblom, Pia and Mertens, Fredrik and Mandahl, Nils},
  issn         = {0020-7136},
  language     = {eng},
  number       = {5},
  pages        = {1181--1186},
  publisher    = {John Wiley and Sons},
  series       = {International Journal of Cancer},
  title        = {Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor.},
  url          = {http://dx.doi.org/10.1002/ijc.21490},
  doi          = {10.1002/ijc.21490},
  volume       = {118},
  year         = {2006},
}