Structural and Functional High-Throughput Genome Analysis Helps Differential Diagnosis between Follicular Adenomas and Carcinomas: Results in a Series of 62 Patients
Philippe Vielh, Catherine Richon, Guillaume Meurice, Bastien Job, Zsofia Balogh, Alexander Valent, Ludovic Lacroix, Virginie Marty, Nelly Motte, Philippe Dessen, Bernard Caillou, Abir Al Ghuzlan, Jean-Michel Bidart, Vladimir Lazar, Adel K El-Naggar, Martin Schlumberger. Institut Gustave Roussy, Villejuif, France; MD Anderson Cancer Center, Houston, TX
Background: Although fine needle aspiration (FNA) cytology is an efficient method for diagnosing the benign or malignant nature of thyroid nodules, distinction between follicular adenomas (FA) and follicular carcinomas (FC) may still represent a difficult task. Identification of distinct structural and functional genomic alterations between these two groups of tumors, potentially applicable to cytological specimens, would be therefore of major interest. Our previous array comparative genomic hybridization (aCGH) results showed that by testing 3 chromosomal abnormalities 50% of the carcinomas can be identified (USCAP 2011, ). In this study, genomic aberrations detected by fluorescent in situ hybridization (FISH) and transcriptomic profile assessed by microarray are studied in a series of frozen samples from histologically proven FA and FC.
Design: A large set of molecular abnormalities in a cohort of 62 patients (see table) were analyzed by molecular methods. All samples underwent FISH analysis using commercially available probes specific to the 3 already described chromosomal anomalies on touch preparations of the corresponding tumors to define aberrant status. Samples with good RNA quality were further hybridized on Agilent 8x60K microarrays (AMADID 28004) to obtain their transcriptomic profile.
|Chromosomal Abnormalities Detected*||FC**||FA**||Total**|
|Yes||18 (13)||0 (0)||18 (13)|
|No||18 (10)||26 (17)||44 (27)|
|Total||36 (23)||26 (17)||62 (40)|