Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland.
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is characterized by activating mutations in the tyrosine kinase genes c-kit or P...
Published in: | APMIS |
---|---|
Main Authors: | , , , , , |
Other Authors: | |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Munksgaard
2010
|
Subjects: | |
Online Access: | http://hdl.handle.net/2336/113706 https://doi.org/10.1111/j.1600-0463.2010.02643.x |
id |
ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/113706 |
---|---|
record_format |
openpolar |
spelling |
ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/113706 2023-05-15T16:48:44+02:00 Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. Tryggvason, G Hilmarsdottir, B Gunnarsson, G H Jonsson, J J Jonasson, J G Magnusson, M K Department of Genetics and Molecular Medicine, University of Iceland, Iceland. 2010-10-22 http://hdl.handle.net/2336/113706 https://doi.org/10.1111/j.1600-0463.2010.02643.x en eng Munksgaard http://dx.doi.org/10.1111/j.1600-0463.2010.02643.x AMPIS. 2010, 118(9):648-56 1600-0463 20718716 doi:10.1111/j.1600-0463.2010.02643.x http://hdl.handle.net/2336/113706 APMIS : acta pathologica, microbiologica, et immunologica Scandinavica Adult Aged 80 and over DNA Primers DNA Neoplasm Exons Female Gastrointestinal Stromal Tumors Humans Iceland Male Middle Aged Mutation Point Mutation Protein-Tyrosine Kinases Proto-Oncogene Proteins c-kit Receptor Platelet-Derived Growth Factor alpha Retrospective Studies Sequence Deletion Article 2010 ftlandspitaliuni https://doi.org/10.1111/j.1600-0463.2010.02643.x 2022-05-29T08:21:38Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is characterized by activating mutations in the tyrosine kinase genes c-kit or PDGFRA. This study examined the mutation rate and type in a population-based material. All gastrointestinal mesenchymal tumors over the years 1990-2004 were evaluated and GIST tumors identified using immunohistochemistry (c-kit) and conventional pathologic parameters. Paraffin sections from all tumors were subjected to mutation analysis on exons 9, 11, 13 and 17 of the c-kit gene and exons 12 and 18 of the PDGFRA gene. To screen for mutations, we used a highly sensitive conformation-sensitive gel electrophoresis (CSGE) and to define the mutated alleles, we employed direct automated DNA sequencing. All c-kit-positive gastrointestinal mesenchymal tumors were entered into the study. Fifty-six tumors from 55 patients were analyzed. Mutations were found in 52 tumors representing a 92.9% mutational rate. Most of the mutations were found in c-kit exon 11 (76.8%), followed by c-kit exon 9 (10.7%). PDGFRA mutations were only found in three tumors. No correlation of mutation type with biologic behavior was found. This population-based study, using a sensitive CSGE method, identifies mutations in the great majority of patients with GIST. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Gist ENVELOPE(98.850,98.850,-67.233,-67.233) APMIS 118 9 648 656 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Adult Aged 80 and over DNA Primers DNA Neoplasm Exons Female Gastrointestinal Stromal Tumors Humans Iceland Male Middle Aged Mutation Point Mutation Protein-Tyrosine Kinases Proto-Oncogene Proteins c-kit Receptor Platelet-Derived Growth Factor alpha Retrospective Studies Sequence Deletion |
spellingShingle |
Adult Aged 80 and over DNA Primers DNA Neoplasm Exons Female Gastrointestinal Stromal Tumors Humans Iceland Male Middle Aged Mutation Point Mutation Protein-Tyrosine Kinases Proto-Oncogene Proteins c-kit Receptor Platelet-Derived Growth Factor alpha Retrospective Studies Sequence Deletion Tryggvason, G Hilmarsdottir, B Gunnarsson, G H Jonsson, J J Jonasson, J G Magnusson, M K Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
topic_facet |
Adult Aged 80 and over DNA Primers DNA Neoplasm Exons Female Gastrointestinal Stromal Tumors Humans Iceland Male Middle Aged Mutation Point Mutation Protein-Tyrosine Kinases Proto-Oncogene Proteins c-kit Receptor Platelet-Derived Growth Factor alpha Retrospective Studies Sequence Deletion |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is characterized by activating mutations in the tyrosine kinase genes c-kit or PDGFRA. This study examined the mutation rate and type in a population-based material. All gastrointestinal mesenchymal tumors over the years 1990-2004 were evaluated and GIST tumors identified using immunohistochemistry (c-kit) and conventional pathologic parameters. Paraffin sections from all tumors were subjected to mutation analysis on exons 9, 11, 13 and 17 of the c-kit gene and exons 12 and 18 of the PDGFRA gene. To screen for mutations, we used a highly sensitive conformation-sensitive gel electrophoresis (CSGE) and to define the mutated alleles, we employed direct automated DNA sequencing. All c-kit-positive gastrointestinal mesenchymal tumors were entered into the study. Fifty-six tumors from 55 patients were analyzed. Mutations were found in 52 tumors representing a 92.9% mutational rate. Most of the mutations were found in c-kit exon 11 (76.8%), followed by c-kit exon 9 (10.7%). PDGFRA mutations were only found in three tumors. No correlation of mutation type with biologic behavior was found. This population-based study, using a sensitive CSGE method, identifies mutations in the great majority of patients with GIST. |
author2 |
Department of Genetics and Molecular Medicine, University of Iceland, Iceland. |
format |
Article in Journal/Newspaper |
author |
Tryggvason, G Hilmarsdottir, B Gunnarsson, G H Jonsson, J J Jonasson, J G Magnusson, M K |
author_facet |
Tryggvason, G Hilmarsdottir, B Gunnarsson, G H Jonsson, J J Jonasson, J G Magnusson, M K |
author_sort |
Tryggvason, G |
title |
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
title_short |
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
title_full |
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
title_fullStr |
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
title_full_unstemmed |
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland. |
title_sort |
tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in iceland. |
publisher |
Munksgaard |
publishDate |
2010 |
url |
http://hdl.handle.net/2336/113706 https://doi.org/10.1111/j.1600-0463.2010.02643.x |
long_lat |
ENVELOPE(98.850,98.850,-67.233,-67.233) |
geographic |
Gist |
geographic_facet |
Gist |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1111/j.1600-0463.2010.02643.x AMPIS. 2010, 118(9):648-56 1600-0463 20718716 doi:10.1111/j.1600-0463.2010.02643.x http://hdl.handle.net/2336/113706 APMIS : acta pathologica, microbiologica, et immunologica Scandinavica |
op_doi |
https://doi.org/10.1111/j.1600-0463.2010.02643.x |
container_title |
APMIS |
container_volume |
118 |
container_issue |
9 |
container_start_page |
648 |
op_container_end_page |
656 |
_version_ |
1766038825328443392 |