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Title: High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma
Authors: Garcia-Dios, Diego A
Lambrechts, Diether ×
Coenegrachts, Lieve
Vandenput, Ingrid
Capoen, An
Webb, Penelope M
Ferguson, Kaltin
Anecs
Akslen, Lars A
Claes, Bart
Vergote, Ignace
Moerman, Philippe
Van Robays, Johan
Marcickiewicz, Janusz
Salvesen, Helga B
Spurdle, Amanda B
Amant, Frédéric #
Issue Date: Feb-2013
Publisher: Academic Press
Series Title: Gynecologic oncology vol:128 issue:2 pages:327-34
Article number: S0090-8258(12)00903-1
Abstract: OBJECTIVE: Endometrial cancer patients may benefit from systemic adjuvant chemotherapy, alone or in combination with targeted therapies. Prognostic and predictive markers are needed, however, to identify patients amenable for these therapies. METHODS: Primary endometrial tumors were genotyped for >100 hot spot mutations in genes potentially acting as prognostic or predictive markers. Mutations were correlated with tumor characteristics in a discovery cohort, replicated in independent cohorts and finally, confirmed in the overall population (n=1,063). RESULTS: PIK3CA, PTEN and KRAS mutations were most frequently detected, respectively in 172 (16.2%), 164 (15.4%) and 161 (15.1%) tumors. Binary logistic regression revealed that PIK3CA mutations were more common in high-grade tumors (OR=2.03; P=0.001 for grade 2 and OR=1.89; P=0.012 for grade 3 compared to grade 1), whereas a positive TP53 status correlated with type II tumors (OR=11.92; P<0.001) and PTEN mutations with type I tumors (OR=19.58; P=0.003). Conversely, FBXW7 mutations correlated with positive lymph nodes (OR=3.38; P=0.045). When assessing the effects of individual hot spot mutations, the H1047R mutation in PIK3CA correlated with high tumor grade and reduced relapse-free survival (HR=2.18; P=0.028). CONCLUSIONS: Mutations in PIK3CA, TP53, PTEN and FBXW7 correlate with high tumor grade, endometrial cancer type and lymph node status, whereas PIK3CA H1047R mutations serve as prognostic markers for relapse-free survival in endometrial cancer patients.
ISSN: 0090-8258
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Gynaecological Oncology
Medicine Teaching Programs
Laboratory of Translational Genetics (Vesalius Research Center) (+)
× corresponding author
# (joint) last author

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