title: Detection of EGFR mutational profile by direct dideoxy sequencing in cytology and non-cytology biopsy samples.
abstract: Epidermal growth factor receptor (EGFR) mutational analysis is recommended in the diagnostic work-up of non-small cell lung carcinoma. The first diagnostic biopsy is usually obtained by a minimally invasive procedure, especially in patients with unresectable disease. This paper aims to compare the types of somatic EGFR mutations detected by cytology and non-cytology samples by direct dideoxy sequencing and propose practical guidelines for handling such material. Only samples with sufficient polymerase chain reaction (PCR) product were considered, a total 310 samples (302 patients), of which 168 samples were cytology material and 142 samples were non-cytology biopsy material. All samples were assessed for tumour content and bidirectional direct sequencing was performed on exons 18, 19, 20 and 21. There were 49 cases with EGFR mutation detected (16.2%), without a significant difference in the detection of mutations between either cytology or non-cytology material. EGFR mutation was detected in most sample types including endoscopic ultrasound guided FNA, bronchial washings/brushings and pleural/peritoneal fluid samples. Cytology material can provide an adequate source of material for EGFR mutational analysis, with coordinated effort between clinicians and pathologists critical for best outcome.
authors.affiliation: 1Department of Anatomical Pathology, PathWest Laboratory Medicine, Nedlands 2School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia.
authors.forename: Connull
authors.initials: C
authors.lastname: Leslie
authors.forename: Tindaro
authors.initials: T
authors.lastname: Giardina
authors.forename: Amerigo
authors.initials: A
authors.lastname: Carrello
authors.forename: Dominic V
authors.initials: DV
authors.lastname: Spagnolo
authors.forename: Benhur
authors.initials: B
authors.lastname: Amanuel
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044963:Biopsy, Fine-Needle; D018893:Bronchoalveolar Lavage; D002277:Carcinoma / Q000235:genetics*; D003581:Cytodiagnosis / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010533:Peritoneal Lavage; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors