Role and accuracy of rapid on-site evaluation of CT-guided fine needle aspiration cytology of lung nodules.

OBJECTIVE: To prospectively investigate the role of trans-thoracic fine needle aspiration cytology (FNA) and the value of rapid on-site evaluation (ROSE) in the clinical management of patients with pulmonary nodules/masses. Computed tomography (CT)-guided FNA is commonly employed for the diagnosis of lung lesions although its position in the diagnostic work-up is still a matter of debate. METHODS: We reviewed 311 patients (211 males and 100 females, mean age 69.5 years) admitted to the University of Padova from 2004 to 2008, correlating the results of cytology with the available histological findings obtained from biopsies, surgery or autopsy. RESULTS: Smears were adequate in 305 cases (98%) and inadequate in six (2%); a diagnosis of malignancy was achieved in 263 cases (86.2%); 39 cases (12.8%) were classified as non-malignant; and three cases (1%) were classified as suspect for malignancy. When correlated with histology, FNA with ROSE discriminated malignant versus non-malignant lesions (Cohen's kappa 0.78), with three false negatives (sensitivity 96.3%, specificity 100%). Moreover, a satisfactory overall agreement of 71.4% was achieved in differentiating the cancer histological types. Pneumothorax occurred in 13 cases, haemoptysis in four, and chest pain in three. A single aspiration was sufficient in 79.6% of patients; two aspirations were needed in 17.4% and three in 3%. The low complication rate was related to the limited number of aspirations needed due to ROSE. CONCLUSIONS: FNA with ROSE is a safe and useful tool in the diagnostic work-up of lung cancer patients, with no contraindications to its use as the first diagnostic procedure for all patients with peripheral lung lesions. FNA with ROSE should be reconsidered in the guidelines for diagnosing and managing lung cancer.

Storiform collagenoma (sclerotic fibroma) of the oral mucosa.

Storiform collagenoma (also called sclerotic fibroma) is uncommon, occurs as a cutaneous fibrous neoplasm, and is particularly rare in mucosal tissue in the head and neck. We describe an unexpected diagnosis in the oral cavity. Histopathological examination showed a proliferation of fibrous tissue, which was well circumscribed but unencapsulated, with thick laminated bundles of eosinophilic collagen that exhibited a storiform or "whorled" pattern. First described by Weary et al in 1972, storiform collagenoma is a marker for Cowden's disease or PTEN hamartoma tumour syndrome. Identification of other synchronous lesions should prompt chromosomal analysis for a mutation in the PTEN gene on chromosome 10q23.

Detection of EGFR and KRAS mutations on trans-thoracic needle aspiration of lung nodules by high resolution melting analysis.

BACKGROUND: EGFR and KRAS are the target genes for tumour response to epidermal growth factor receptor (EGFR) inhibitors. AIMS: To investigate EGFR and KRAS mutational status with high resolution melting (HRM) analysis applied to cytological material obtained from trans-thoracic needle aspiration (TTNA) in order to better select patients for targeted therapy. METHODS: DNA was extracted from fixed material of 108 TTNAs under CT guidance, from 108 consecutive patients. In 77 TTNAs (71.3.%) that were positive for non-small cell lung cancer, the variant in exon 21 (the missense mutation at codon 858, L858R) and the deletion in exon 19 (in frame deletion at codons 747-749) of the EGFR gene, and the point mutation in exon 2 of KRAS were investigated with HRM assay using sequencing as the reference "gold standard". RESULTS: Nine (11.7%) samples were positive for KRAS exon 2 mutations, and two (2.6%) samples were positive for the EGFR exon 21 missense mutation by HRM assay. No deletion at exon 19 for EGFR was detected by HRM analysis. All HRM results were confirmed by direct DNA sequencing. CONCLUSIONS: HRM analysis of cytological material was accurate for the detection of two major EGFR mutations and KRAS mutations in exon 2. HRM analysis was fast, easy to apply, cheap, highly reproducible, and could be used with small amounts of material, such as is obtainable with needle lavage. Therefore, it may be useful as an adjunct to the cytological report that yields valuable molecular information.