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The suitability of small biopsy and cytology specimens for EGFR and other mutation testing in non-small cell lung cancer


BACKGROUND: Patients with advanced non-small cell lung cancer (NSCLC) benefit from treatment with epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) when their tumor harbors an activating EGFR mutation. As the majority of NSCLC patients present with advanced disease, cytology and small biopsy specimens are frequently the only tissue available for mutation testing, but can pose challenges due to low tumor content. We aim to better define the suitability of these specimens for mutation testing. METHODS: NSCLC cases referred to our institution for mutation testing over a 15-month period were retrospectively reviewed. Specimens were tested for mutations including EGFR, KRAS, and BRAF, using a multiplex PCR assay (OncoCarta Panel v1.0) and analyzed on the Agena Bioscience MassARRAY platform. RESULTS: A total of 146 specimens were tested, comprising 53 (36.3%) resection specimens (including 28 lung resection specimens), 55 (37.7%) small biopsy specimens and 38 (26%) cytology specimens. Of 142 cases with sufficient DNA for mutation testing, EGFR mutations were detected in 31 specimens (21.8%), KRAS mutations in 31 specimens (21.8%) and BRAF mutations in three specimens (2.1%). There was no significant difference in the EGFR mutation rate between lung resection (10 of 28 cases; 35.7%), small biopsy (9 of 53 cases; 17%), and cytology specimens (8 of 36 cases; 22.2%). CONCLUSIONS: Our results support the utility of small biopsy and cytology specimens for mutation testing. Careful evaluation of the adequacy of small specimens is required to minimize the risk of false negative or positive results.

Type Journal
ISBN 2218-6751 (Print) 2218-6751 (Linking)
Authors Wang, S.; Yu, B.; Ng, C. C.; Mercorella, B.; Selinger, C. I.; O'Toole, S. A.; Cooper, W. A.;
Publisher Name Transl Lung Cancer Res
Published Date 2015-01-01
Published Volume 4
Published Issue 2
Published Pages 119-125
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version