Rapid methods to create a positive control and identify the PAX8/PPARγ rearrangement in FNA thyroid samples by molecular biology.

// Emilia Vuttariello 1 , Elio Biffali 2 , Raimondo Pannone 2 , Anna Capiluongo 1 , Mario Monaco 1 , Valentina Sica 1 , Concetta Aiello 3 , Marco Matuozzo 1 , Maria Grazia Chiofalo 4 , Gerardo Botti 5 and Gennaro Chiappetta 1 1 Functional Genomics Unit, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia 2 Molecular Biology and Bioinformatics Unit, Stazione Zoologica “A. Dorhn”, Naples, Italy 3 CMO, Naples, Italy 4 Thyroid Surgery Unit, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia 5 S.S.D. di Citopatologia e S.C. di Anatomia Patologica, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia Correspondence to: Gennaro Chiappetta, email: chiappettagennaro@gmail.com Keywords: thyroid; FNA (fine needle aspiration); PAX8 gene; PPAR gene; PAX8/PPARγ rearrangement Received: January 03, 2018      Accepted: March 09, 2018      Published: April 10, 2018 ABSTRACT Thyroid cancer is the most common malignancy of the endocrine system and includes well-differentiated forms, namely papillary and follicular carcinomas, and the poorly differentiated and undifferentiated forms that result from the transformation of thyroid follicular cells (anaplastic carcinomas). Notably, 5–10% of all thyroid cancers are medullary thyroid cancers that arise from parafollicular cells also known as C cells. The most common genetic mutations in papillary and follicular thyroid cancers are point mutations of the BRAF or RAS genes, while the most common chromosomal alterations are RET/PTC and PAX8/PPARγ rearrangements. The most frequent initial manifestation of thyroid cancer is the appearance of a nodule most of which are benign; indeed, less than 5% are malignant. However, some cases are misdiagnosed, and many patients undergo unnecessary surgery. Therefore, an accurate pre-surgery evaluation is crucial. The most reliable diagnostic test for thyroid nodules is fine needle aspiration (FNA) cytology, which accurately distinguishes between a benign and malignant lesion in most cases. However, cytological discrimination between malignant and benign follicular cancer is often difficult because of poor quality samples. Here we describe rapid methods to create a positive control and identify the PAX8/PPARγ rearrangement in FNA thyroid samples by molecular biology.