Epidermal Growth Factor Receptor and K-RAS status in two cohorts of squamous cell carcinomas

BMC Cancer

Research Article

Nadine Van Roy¹  Franki Speleman¹  Filip Baert²  Jean-Luc Van Laethem³  Philippe Deron⁴  Nancy Van Damme⁵  Marc Peeters⁶  Alain Bols⁷  Patrick Pauwels⁸  Jo Van Dorpe⁹  Pieter Demetter^1,10 

[1] Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium;Department of Gastroenterology, Heilig Hart Ziekenhuis Roeselare, Wilgenstraat 2, 8800, Roeselare, Belgium;Department of Gastroenterology, Université libre de Bruxelles, Route de Lennik 808, 1070, Brussels, Belgium;Department of Head and Neck Surgery, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium;Department of Hepato-Gastroenterology, Digestive Oncology Unit, Ghent University Hospital, De Pintelaan 185 1K12IE, 9000, Ghent, Belgium;Department of Hepato-Gastroenterology, Digestive Oncology Unit, Ghent University Hospital, De Pintelaan 185 1K12IE, 9000, Ghent, Belgium;MP is a Senior Clinical Investigator Research Foundation, Flanders;Department of Oncology, AZ Sint-Jan Brugge, Ruddershove 10, 8000, Bruges, Belgium;Department of Pathology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium;Department of Pathology, Heilig Hart Ziekenhuis Roeselare, Wilgenstraat 2, 8800, Roeselare, Belgium;Department of Pathology, Université libre de Bruxelles, Route de Lennik 808, 1070, Brussels, Belgium;

关键词: Epidermal Growth Factor Receptor;    Anal Canal;    Epidermal Growth Factor Receptor Mutation;    Epidermal Growth Factor Receptor Expression;    Epidermal Growth Factor Receptor Gene;   

DOI  :  10.1186/1471-2407-10-189

 received in 2009-12-21, accepted in 2010-05-11,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundWith the availability of effective anti-EGFR therapies for various solid malignancies, such as non-cell small lung cancer, colorectal cancer and squamous cell carcinoma of the head and neck, the knowledge of EGFR and K-RAS status becomes clinically important. The aim of this study was to analyse EGFR expression, EGFR gene copy number and EGFR and K-RAS mutations in two cohorts of squamous cell carcinomas, specifically anal canal and tonsil carcinomas.MethodsFormalin fixed, paraffin-embedded tissues from anal and tonsil carcinoma were used. EGFR protein expression and EGFR gene copy number were analysed by means of immunohistochemistry and fluorescence in situ hybridisation. The somatic status of the EGFR gene was investigated by PCR using primers specific for exons 18 through 21. For the K-RAS gene, PCR was performed using exon 2 specific primers.ResultsEGFR immunoreactivity was present in 36/43 (83.7%) of anal canal and in 20/24 (83.3%) of tonsil squamous cell carcinomas. EGFR amplification was absent in anal canal tumours (0/23), but could be identified in 4 of 24 tonsil tumours.From 38 anal canal specimens, 26 specimens were successfully analysed for exon 18, 30 for exon 19, 34 for exon 20 and 30 for exon 21. No EGFR mutations were found in the investigated samples. Thirty samples were sequenced for K-RAS exon 2 and no mutation was identified. From 24 tonsil specimens, 22 were successfully analysed for exon 18 and all 24 specimens for exon 19, 20 and 21. No EGFR mutations were found. Twenty-two samples were sequenced for K-RAS exon 2 and one mutation c.53C > A was identified.ConclusionEGFR mutations were absent from squamous cell carcinoma of the anus and tonsils, but EGFR protein expression was detected in the majority of the cases. EGFR amplification was seen in tonsil but not in anal canal carcinomas. In our investigated panel, only one mutation in the K-RAS gene of a tonsil squamous cell carcinoma was identified. This indicates that EGFR and K-RAS mutation analysis is not useful as a screening test for sensitivity to anti-EGFR therapy in anal canal and tonsil squamous cell carcinoma.

【 授权许可】

CC BY   
© Van Damme et al; licensee BioMed Central Ltd. 2010