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Oncotarget. 2016 Jun 28;7(26):39293-39301. doi: 10.18632/oncotarget.9828.

Mutations of KRAS, NRAS, BRAF, EGFR, and PIK3CA genes in urachal carcinoma: Occurence and prognostic significance.

Author information

1
Department of Urology, Semmelweis University, Budapest, Hungary.
2
Institute of Pathology, University of Duisburg-Essen, Essen, Germany.
3
Department of Urology, University of Duisburg-Essen, Essen, Germany.
4
2nd Department of Pathology, Semmelweis University, Budapest, Hungary.
5
1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
6
Department of Urology, Jagiellonian University, Krakow, Poland.
7
Department of Pathomorphology, Jagiellonian University, Krakow, Poland.
8
Department of Urology, Rennes University Hospital, Rennes, France.
9
Department of Urology, Medical University of Vienna, Vienna General Hospital, Vienna, Austria.
10
Tumor Progression Research Group, Hungarian Academy of Sciences, Budapest, Hungary.

Abstract

PURPOSE:

Targeted therapy represents an attractive alternative for rare tumors such as urachal carcinoma (UrC). The aim of this study was to assess the mutations of the most commonly affected 5 genes in the targetable EGFR-pathway in UrC and comapre their frequencies to those of found in urothelial and colorectal cancer.

MATERIALS AND METHODS:

Mutational hot-spots of selected genes were tested in 22 UrC samples by pyrosequencing. Mutational patterns were compared to those published for colorectal and urothelial cancers. Furthermore, we sought correlations between mutations and clinicopathological and follow-up data.

RESULTS:

We found 11 mutations in 10 of 22 (45%) patients. The most frequently mutated gene was KRAS (27%) followed by BRAF (18%) and NRAS (5%), while no mutations were detected in the EGFR and PIK3CA genes. No correlation was found between the mutation status and clinicopathological parameters (Sheldon/Mayo stage, tumor grade, metastases). Furthermore, none of the mutations correlated with progression-free or overall survival.

CONCLUSIONS:

The mutation pattern of UrC is more similar to colorectal than to urothelial cancer. However, the mutation characteristics of UrC seems to be unique suggesting that clinical decision-making for UrC cannot be simply adopted from urothelial or colorectal carcinoma. The high occurence of EGFR-pathway mutations warrants the testing for KRAS and BRAF mutations when considering anti-EGFR therapy in UrC.

KEYWORDS:

EGFR; Pathology Section; mutation; urachal cancer; urachal carcinoma; urachus

PMID:
27283768
PMCID:
PMC5129933
DOI:
10.18632/oncotarget.9828
[Indexed for MEDLINE]
Free PMC Article

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