Literature DB >> 21906875

Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST).

Marc Daniels1, Irene Lurkin, Roland Pauli, Erhard Erbstösser, Uwe Hildebrandt, Karsten Hellwig, Uwe Zschille, Petra Lüders, Gabriele Krüger, Jürgen Knolle, Bernd Stengel, Friedrich Prall, Kay Hertel, Hartmut Lobeck, Brigitte Popp, Franz Theissig, Peter Wünsch, Ellen Zwarthoff, Abbas Agaimy, Regine Schneider-Stock.   

Abstract

Pathogenetic pathways of gastrointestinal stromal tumors (GIST) lacking mutations in KIT and PDGFRA (∼15%) are still poorly studied. Nearly nothing is known about PI3K alterations in GISTs and only a few GISTs with BRAF mutations have been reported. BRAF mutations (V600E) were found in 3/87 tumors (3.5%) concomitantly were wild type for KIT and PDGFRA. No mutations were detected in KRAS, NRAS, and FGFR3. For the first-time we demonstrated a PIK3CA mutation (H1047L) simultaneously occurring with a 15-bp deletion in KIT exon 11 in one tumor. We suggest that BRAF mutations are of pathogenetic significance in wild type GISTs. The PI3K pathway should be assessed in future studies.
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

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Year:  2011        PMID: 21906875     DOI: 10.1016/j.canlet.2011.07.029

Source DB:  PubMed          Journal:  Cancer Lett        ISSN: 0304-3835            Impact factor:   8.679


  59 in total

1.  New Mechanisms of mTOR Pathway Activation in KIT-mutant Malignant GISTs.

Authors:  Jerzy Lasota; Artur Kowalik; Anna Felisiak-Golabek; Sebastian Zięba; Zeng-Feng Wang; Markku Miettinen
Journal:  Appl Immunohistochem Mol Morphol       Date:  2019-01

Review 2.  GISTogram: a graphic presentation of the growing GIST complexity.

Authors:  Riccardo Ricci; Angelo Paolo Dei Tos; Guido Rindi
Journal:  Virchows Arch       Date:  2013-08-23       Impact factor: 4.064

3.  On the prevalence of KRAS mutations in GISTs.

Authors:  Riccardo Ricci; Angelo Paolo Dei Tos; Guido Rindi
Journal:  Virchows Arch       Date:  2013-10-19       Impact factor: 4.064

4.  Cross regulation of signaling pathways in gastrointestinal stromal tumor.

Authors:  Yijun Qi; Wendi Zhao; Zhengguang Wang; Qingsong Xie; Jing Cao; Xiangling Meng
Journal:  Oncol Lett       Date:  2018-09-24       Impact factor: 2.967

Review 5.  [Translational research and diagnosis in GIST].

Authors:  E Wardelmann
Journal:  Pathologe       Date:  2012-11       Impact factor: 1.011

6.  Pathologic and molecular features correlate with long-term outcome after adjuvant therapy of resected primary GI stromal tumor: the ACOSOG Z9001 trial.

Authors:  Christopher L Corless; Karla V Ballman; Cristina R Antonescu; Violetta Kolesnikova; Robert G Maki; Peter W T Pisters; Martin E Blackstein; Charles D Blanke; George D Demetri; Michael C Heinrich; Margaret von Mehren; Shreyaskumar Patel; Martin D McCarter; Kouros Owzar; Ronald P DeMatteo
Journal:  J Clin Oncol       Date:  2014-03-17       Impact factor: 44.544

7.  KRAS and KIT Gatekeeper Mutations Confer Polyclonal Primary Imatinib Resistance in GI Stromal Tumors: Relevance of Concomitant Phosphatidylinositol 3-Kinase/AKT Dysregulation.

Authors:  César Serrano; Yuexiang Wang; Adrián Mariño-Enríquez; Jen-Chieh Lee; Gloria Ravegnini; Jeffrey A Morgan; Monica M Bertagnolli; Carol Beadling; George D Demetri; Christopher L Corless; Michael C Heinrich; Jonathan A Fletcher
Journal:  J Clin Oncol       Date:  2014-03-31       Impact factor: 44.544

8.  Value of epithelioid morphology and PDGFRA immunostaining pattern for prediction of PDGFRA mutated genotype in gastrointestinal stromal tumors (GISTs).

Authors:  Abbas Agaimy; Claudia Otto; Alexander Braun; Helene Geddert; Inga-Marie Schaefer; Florian Haller
Journal:  Int J Clin Exp Pathol       Date:  2013-08-15

9.  Clinicopathological effects of protein phosphatase 2, regulatory subunit A, alpha mutations in gastrointestinal stromal tumors.

Authors:  Midori Toda-Ishii; Keisuke Akaike; Yoshiyuki Suehara; Kenta Mukaihara; Daisuke Kubota; Shinji Kohsaka; Taketo Okubo; Keiko Mitani; Kaoru Mogushi; Tatsuya Takagi; Kazuo Kaneko; Takashi Yao; Tsuyoshi Saito
Journal:  Mod Pathol       Date:  2016-07-29       Impact factor: 7.842

10.  No KRAS mutations found in gastrointestinal stromal tumors (GISTs): molecular genetic study of 514 cases.

Authors:  Jerzy Lasota; Liqiang Xi; Tiffany Coates; RaShonda Dennis; Moses O Evbuomwan; Zeng-Feng Wang; Mark Raffeld; Markku Miettinen
Journal:  Mod Pathol       Date:  2013-05-24       Impact factor: 7.842

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