Impact of KIT and PDGFRA gene mutations on prognosis of patients with gastrointestinal stromal tumors after complete primary tumor resection.
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Impact of KIT and PDGFRA gene mutations on prognosis of patients with gastrointestinal stromal tumors after complete primary tumor resection. / Hou, Ying-Yong; Grabellus, Florian; Weber, Frank; Zhou, Yang; Tan, Yun-Shan; Li, Jun; Shen, Kun-Tang; Qin, Jin; Sun, Yi-Hong; Qin, Xin-Yu; Bockhorn, Maximilian; Gerken, Guido; Broelsch, Christoph E; Frilling, Andrea.
In: J GASTROINTEST SURG, Vol. 13, No. 9, 9, 2009, p. 1583-1592.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Impact of KIT and PDGFRA gene mutations on prognosis of patients with gastrointestinal stromal tumors after complete primary tumor resection.
AU - Hou, Ying-Yong
AU - Grabellus, Florian
AU - Weber, Frank
AU - Zhou, Yang
AU - Tan, Yun-Shan
AU - Li, Jun
AU - Shen, Kun-Tang
AU - Qin, Jin
AU - Sun, Yi-Hong
AU - Qin, Xin-Yu
AU - Bockhorn, Maximilian
AU - Gerken, Guido
AU - Broelsch, Christoph E
AU - Frilling, Andrea
PY - 2009
Y1 - 2009
N2 - INTRODUCTION: To investigate the impact of KIT and PDGFRA gene mutations on the prognosis of gastrointestinal stromal tumors (GIST). MATERIAL AND METHODS: Tumor tissue from 184 patients with primary GIST was submitted to mutational analysis of exons 9, 11, 13, and 17 of the KIT gene and exons 12 and 18 of the PDGFRA gene. Clinical and pathological parameters were analyzed and correlated to the risk of recurrence and disease-free survival (DFS). RESULTS AND DISCUSSION: The authors found that somatic mutations were detected in 162 tumors (88.0%). Age, clinical stage, mitotic count, and tumor size were of prognostic relevance on both univariate and multivariate analysis. Five-year DFS was 41.9%. While the presence of a KIT or PDGFRA mutation per se was not associated with tumor recurrence and/or disease-free survival, exon 11 deletion and hemizygous mutation status were both independent factors highly predictive for poor survival. CONCLUSION: The authors conclude that KIT exon 11 deletions and somatic loss of the wild-type KIT identified patients with poor prognosis. Age, clinical stage, tumor size, and mitotic count were standard clinicopathologic features that significantly influenced the prognosis. Mutation type of the mitogen receptor c-kit has a potential for predicting the course of the disease and might contribute to management individualization of GIST patients.
AB - INTRODUCTION: To investigate the impact of KIT and PDGFRA gene mutations on the prognosis of gastrointestinal stromal tumors (GIST). MATERIAL AND METHODS: Tumor tissue from 184 patients with primary GIST was submitted to mutational analysis of exons 9, 11, 13, and 17 of the KIT gene and exons 12 and 18 of the PDGFRA gene. Clinical and pathological parameters were analyzed and correlated to the risk of recurrence and disease-free survival (DFS). RESULTS AND DISCUSSION: The authors found that somatic mutations were detected in 162 tumors (88.0%). Age, clinical stage, mitotic count, and tumor size were of prognostic relevance on both univariate and multivariate analysis. Five-year DFS was 41.9%. While the presence of a KIT or PDGFRA mutation per se was not associated with tumor recurrence and/or disease-free survival, exon 11 deletion and hemizygous mutation status were both independent factors highly predictive for poor survival. CONCLUSION: The authors conclude that KIT exon 11 deletions and somatic loss of the wild-type KIT identified patients with poor prognosis. Age, clinical stage, tumor size, and mitotic count were standard clinicopathologic features that significantly influenced the prognosis. Mutation type of the mitogen receptor c-kit has a potential for predicting the course of the disease and might contribute to management individualization of GIST patients.
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Aged, 80 and over
KW - Adolescent
KW - Young Adult
KW - Multivariate Analysis
KW - Registries
KW - Biopsy, Needle
KW - Immunohistochemistry
KW - Prognosis
KW - Risk Assessment
KW - Survival Analysis
KW - Disease-Free Survival
KW - Proportional Hazards Models
KW - Retrospective Studies
KW - Mutation
KW - Chi-Square Distribution
KW - Digestive System Surgical Procedures methods
KW - Gastrointestinal Stromal Tumors genetics
KW - Gene Expression Regulation, Neoplastic
KW - Genetic Predisposition to Disease epidemiology
KW - Neoplasm Recurrence, Local genetics
KW - Neoplasm Staging
KW - Proto-Oncogene Proteins c-kit genetics
KW - Receptor, Platelet-Derived Growth Factor alpha genetics
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Aged, 80 and over
KW - Adolescent
KW - Young Adult
KW - Multivariate Analysis
KW - Registries
KW - Biopsy, Needle
KW - Immunohistochemistry
KW - Prognosis
KW - Risk Assessment
KW - Survival Analysis
KW - Disease-Free Survival
KW - Proportional Hazards Models
KW - Retrospective Studies
KW - Mutation
KW - Chi-Square Distribution
KW - Digestive System Surgical Procedures methods
KW - Gastrointestinal Stromal Tumors genetics
KW - Gene Expression Regulation, Neoplastic
KW - Genetic Predisposition to Disease epidemiology
KW - Neoplasm Recurrence, Local genetics
KW - Neoplasm Staging
KW - Proto-Oncogene Proteins c-kit genetics
KW - Receptor, Platelet-Derived Growth Factor alpha genetics
M3 - SCORING: Zeitschriftenaufsatz
VL - 13
SP - 1583
EP - 1592
JO - J GASTROINTEST SURG
JF - J GASTROINTEST SURG
SN - 1091-255X
IS - 9
M1 - 9
ER -