Original contributionKIT 1530ins6 mutation defines a subset of predominantly malignant gastrointestinal stromal tumors of intestinal origin1 ☆,
Section snippets
Tissue material
A total of 520 GISTs were obtained from the files of the Armed Forces Institute of Pathology, Haartman Institute of the University of Helsinki, Department of Pathomorphology of the Jagiellonian University in Krakow, Department of Pathology of Otto-von-Guericke University in Magdeburg, Chair of Oncology of the Medical University of Lodz, and Department of Pathology of the Faculty Hospital in Pilsen. In 8 cases, some of the data have been previously published in our study and collaborative
Results
The clinicopathological and molecular genetic data are summarized in Table 1.
Discussion
KIT-activating mutations have been documented in most GISTs. First, Hirota at al18 reported in-frame deletions and missense mutations in KIT juxtamembrane domain (exon 11) in 5 of 6 GISTs analyzed. In subsequent studies, this type of mutation has been found in most GISTs.29, 31, 32, 33 However, other mutational “hot spots” in KIT exons 9, 13, and 17 have been identified in the GISTs negative for the exon 11 mutation.19, 34
In exon 9, insertion of 6 nucleotides GCC TAT (1530ins6) resulting in
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Gastrointestinal stromal tumor. An update
2015, Revista Espanola de PatologiaChromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors
2014, Human PathologyGastrointestinal Stromal Tumors
2013, Gastroenterology Clinics of North AmericaPrognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience
2012, Annals of OncologyCitation Excerpt :Single KIT exon 11 substitutions are associated with longer relapse-free survival (RFS) and overall survival [8]. Conversely, the KIT exon 9 duplications, occurring almost exclusively in intestinal tumours, have been associated with malignant behaviour [11, 12]. Homo-/hemizygous KIT mutations were reported to associate with tumour liver metastasis and poor clinical outcome of the disease [13].
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This study was partially supported by the American Registry of Pathology and by a grant from the Polish Committee for Scientific Research (3 P05C 059 25).
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The opinions and assertions contained herein are the expressed views of the authors and are not to be construed as official or reflecting the views of the Departments of the Army or Defense.