Rapid methods to create a positive control and identify the PAX8/PPARγ rearrangement in FNA thyroid samples by molecular biology
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Emilia Vuttariello1, Elio Biffali2, Raimondo Pannone2, Anna Capiluongo1, Mario Monaco1, Valentina Sica1, Concetta Aiello3, Marco Matuozzo1, Maria Grazia Chiofalo4, Gerardo Botti5 and Gennaro Chiappetta1
1Functional Genomics Unit, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia
2Molecular Biology and Bioinformatics Unit, Stazione Zoologica “A. Dorhn”, Naples, Italy
3CMO, Naples, Italy
4Thyroid Surgery Unit, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia
5S.S.D. di Citopatologia e S.C. di Anatomia Patologica, Istituto Nazionale Tumori -IRCCS -Fondazione G. Pascale, Napoli, Italia
Gennaro Chiappetta, email: [email protected]
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
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.
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