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

被引：146

作者：

Daniels, Marc ^{[1
]}

Lurkin, Irene ^{[2
]}

Pauli, Roland ^{[3
]}

Erbstoesser, Erhard ^{[4
]}

Hildebrandt, Uwe ^{[5
]}

Hellwig, Karsten ^{[6
]}

Zschille, Uwe

Lueders, Petra

Krueger, Gabriele

Knolle, Juergen

Stengel, Bernd

Prall, Friedrich ^{[7
]}

Hertel, Kay ^{[8
]}

Lobeck, Hartmut ^{[9
]}

Popp, Brigitte

Theissig, Franz ^{[10
]}

Wuensch, Peter ^{[11
]}

Zwarthoff, Ellen ^{[2
]}

Agaimy, Abbas ^{[1
]}

Schneider-Stock, Regine ^{[1
]}

机构：

[1] Univ Erlangen Nurnberg, Inst Pathol, Erlangen, Germany

[2] Erasmus MC, Dept Pathol, Rotterdam, Netherlands

[3] Klinikum Brandenburg, Inst Pathol, Brandenburg, Germany

[4] AMEOS Klinikum St Salvator, Inst Pathol, Halberstadt, Germany

[5] Klinikum Quedlinburg, Inst Pathol, Quedlinburg, Germany

[6] Klinikum Magdeburg, Inst Pathol, Magdeburg, Germany

[7] Univ Rostock, Inst Pathol, D-2500 Rostock 1, Germany

[8] HELIOS Klin, Inst Pathol, Erfurt, Germany

[9] Ernst von Bergmann Klinikum, Inst Pathol, Potsdam, Germany

[10] Carl Thiem Klinikum, Inst Pathol, Cottbus, Germany

[11] Klinikum Nurnberg, Inst Pathol, Nurnberg, Germany

来源：

CANCER LETTERS | 2011年 / 312卷 / 01期

关键词：

Gastrointestinal stromal tumor (GIST); KIT; Platelet derived growth factor receptor; alpha (PDGFRA); BRAF; PI3K; PIK3CA; V600E BRAF MUTATIONS; C-KIT; PDGFRA MUTATIONS; PHOSPHOINOSITIDE; 3-KINASE; JUXTAMEMBRANE DOMAIN; INTERSTITIAL-CELLS; POOR-PROGNOSIS; PRIMARY SITE; ASSOCIATION; MORPHOLOGY;

D O I：

10.1016/j.canlet.2011.07.029

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

Pathogenetic pathways of gastrointestinal stromal tumors (GIST) lacking mutations in KIT and PDGFRA (similar to 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 KRA.S, 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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

引用

页码：43 / 54

页数：12

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