Modifications in the papillary thyroid cancer gene profile over the last 15 years

Cristina Romei, Laura Fugazzola, Efisio Puxeddu, Francesco Frasca, David Viola, Marina Muzza, Sonia Moretti, Maria Luisa Nicolosi, Carlotta Giani, Valentina Cirello, Nicola Avenia, Stefania Rossi, Paolo Vitti, Aldo Pinchera, Rossella Elisei

Research output: Contribution to journalArticlepeer-review


Background: Evidence for an increased prevalence of BRAFV600E mutations has been documented in recent decades. The aim of this study was to evaluate the prevalence of both RET/PTC rearrangements and BRAFV600E mutations in an Italian cohort of papillary thyroid carcinoma (PTC) patients followed at the Endocrine Units of Pisa, Milano, and Perugia from 1996-2010. Patients and Methods: In total, 401 PTC patients were examined and grouped according to the time of surgery: group 1, 1996-2000; group 2, 2001-2005; and group 3, 2006-2010. Patients were analyzed for clinical, pathological, and molecular features. In parallel, the molecular characteristics of 459 PTC from Sicily were studied. Results: The genetic profiles of the three groups were significantly different (PV600E mutations increased over the same period, from 28% in group 1 (28of100) to 48.9% in group 2 (73 of 148) and 58.1% in group 3 (89 of 153). A consistent increase in BRAFV600E prevalence was observed in the Sicilian group (PV600E mutations. In addition, the mean age at diagnosis increased and tumor size decreased over the study period.

Original languageEnglish
JournalJournal of Clinical Endocrinology and Metabolism
Issue number9
Publication statusPublished - Sep 2012

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism


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