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Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour

Piarulli, Giuseppe LU ; Puls, Florian ; Wängberg, Bo ; Fagman, Henrik ; Hansson, Magnus ; Nilsson, Jenny LU ; Arbajian, Elsa LU and Mertens, Fredrik LU (2019) In Histopathology 74(7). p.1098-1102
Abstract
Inflammatory myofibroblastic tumour (IMT) is a soft tissue tumour primarily affecting children and young adults. Approximately 50% of IMTs have gene fusions involving the receptor tyrosine kinase (RTK)-encoding ALK gene, providing a molecular rationale for treating IMT patients with unresectable tumours with tyrosine kinase inhibitors (TKI). However, a subset of IMT instead displays fusions affecting other RTKencoding genes, so far including NTRK3, PDGFRB and ROS1. Also, IMTs with variant RTK fusions may respond well to TKI treatment, but can be dif?cult to identify as they are negative for ALK staining at immunohistochemistry, the standard method for detection of ALK rearrangements. Materials and methods: We used RNA-sequencing to search... (More)
Inflammatory myofibroblastic tumour (IMT) is a soft tissue tumour primarily affecting children and young adults. Approximately 50% of IMTs have gene fusions involving the receptor tyrosine kinase (RTK)-encoding ALK gene, providing a molecular rationale for treating IMT patients with unresectable tumours with tyrosine kinase inhibitors (TKI). However, a subset of IMT instead displays fusions affecting other RTKencoding genes, so far including NTRK3, PDGFRB and ROS1. Also, IMTs with variant RTK fusions may respond well to TKI treatment, but can be dif?cult to identify as they are negative for ALK staining at immunohistochemistry, the standard method for detection of ALK rearrangements. Materials and methods: We used RNA-sequencing to search for alternate fusion events in an ALK-negative IMT. Results and conclusions: We found a novel fusion gene - FN1-IGF1R. The FN1 gene, encoding ?bronectin, is thought to provide a strong promoter activity for the kinase domain of the RTK insulin-like growth factor 1 receptor, a mechanism similar to previously described RTK fusions in IMT. (Less)
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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Gene fusions, ALK, Soft tissue tumors
in
Histopathology
volume
74
issue
7
pages
1098 - 1102
publisher
Wiley-Blackwell
external identifiers
  • scopus:85065019271
  • pmid:30735274
ISSN
1365-2559
DOI
10.1111/his.13839
language
English
LU publication?
yes
id
21670726-4d79-4594-9b96-4cdb3d1b769f
date added to LUP
2019-05-06 09:25:53
date last changed
2022-04-25 23:01:54
@article{21670726-4d79-4594-9b96-4cdb3d1b769f,
  abstract     = {{Inflammatory myofibroblastic tumour (IMT) is a soft tissue tumour primarily affecting children and young adults. Approximately 50% of IMTs have gene fusions involving the receptor tyrosine kinase (RTK)-encoding ALK gene, providing a molecular rationale for treating IMT patients with unresectable tumours with tyrosine kinase inhibitors (TKI). However, a subset of IMT instead displays fusions affecting other RTKencoding genes, so far including NTRK3, PDGFRB and ROS1. Also, IMTs with variant RTK fusions may respond well to TKI treatment, but can be dif?cult to identify as they are negative for ALK staining at immunohistochemistry, the standard method for detection of ALK rearrangements. Materials and methods: We used RNA-sequencing to search for alternate fusion events in an ALK-negative IMT. Results and conclusions: We found a novel fusion gene - FN1-IGF1R. The FN1 gene, encoding ?bronectin, is thought to provide a strong promoter activity for the kinase domain of the RTK insulin-like growth factor 1 receptor, a mechanism similar to previously described RTK fusions in IMT.}},
  author       = {{Piarulli, Giuseppe and Puls, Florian and Wängberg, Bo and Fagman, Henrik and Hansson, Magnus and Nilsson, Jenny and Arbajian, Elsa and Mertens, Fredrik}},
  issn         = {{1365-2559}},
  keywords     = {{Gene fusions; ALK; Soft tissue tumors}},
  language     = {{eng}},
  number       = {{7}},
  pages        = {{1098--1102}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Histopathology}},
  title        = {{Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour}},
  url          = {{http://dx.doi.org/10.1111/his.13839}},
  doi          = {{10.1111/his.13839}},
  volume       = {{74}},
  year         = {{2019}},
}