Impact of proto-oncogene mutation detection in cytological specimens from thyroid nodules improves the diagnostic accuracy of cytology

The Journal of Clinical Endocrinology and Metabolism
Silvia CantaraFurio Pacini

Abstract

Fine-needle aspiration cytology (FNAC) is the gold standard for the differential diagnosis of thyroid nodules but has the limitation of inadequate sampling or indeterminate lesions. We aimed to verify whether search of thyroid cancer-associated protooncogene mutations in cytological samples may improve the diagnostic accuracy of FNAC. One hundred seventy-four consecutive patients undergoing thyroid surgery were submitted to FNAC (on 235 thyroid nodules) that was used for cytology and molecular analysis of BRAF, RAS, RET, TRK, and PPRgamma mutations. At surgery these nodules were sampled to perform the same molecular testing. Mutations were found in 67 of 235 (28.5%) cytological samples. Of the 67 mutated samples, 23 (34.3%) were mutated by RAS, 33 (49.3%) by BRAF, and 11 (16.4%) by RET/PTC. In 88.2% of the cases, the mutation was confirmed in tissue sample. The presence of mutations at cytology was associated with cancer 91.1% of the times and follicular adenoma 8.9% of the time. BRAF or RET/PTC mutations were always associated with cancer, whereas RAS mutations were mainly associated with cancer (74%) but also follicular adenoma (26%). The diagnostic performance of molecular analysis was superior to that of traditional cytolog...Continue Reading

References

Jul 9, 2011·Endocrine Pathology·Feriyl Bhaijee, Yuri E Nikiforov
May 12, 2012·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Nidhi AggarwalYuri E Nikiforov
Jun 29, 2010·Thyroid : Official Journal of the American Thyroid Association·Mingzhao Xing
Oct 3, 2012·Thyroid : Official Journal of the American Thyroid Association·Carolina FerrazMarkus Eszlinger
Sep 1, 2011·Thyroid : Official Journal of the American Thyroid Association·Rebecca E Schweppe, Bryan R Haugen
Sep 19, 2012·Thyroid : Official Journal of the American Thyroid Association·Steven P HodakAmerican Thyroid Association Clinical Affairs Committee
Nov 20, 2012·Annals of Oncology : Official Journal of the European Society for Medical Oncology·Furio PaciniESMO Guidelines Working Group
Nov 30, 2011·Current Opinion in Oncology·Constantine TheoharisJulie Ann Sosa
Jan 18, 2013·Journal of Thyroid Research·Hala Ahmadieh, Sami T Azar
Mar 16, 2012·The Journal of Clinical Endocrinology and Metabolism·Linwah YipSally E Carty
Nov 15, 2012·The Journal of Clinical Endocrinology and Metabolism·Matthias DettmerMarina N Nikiforova
Nov 5, 2010·Endocrine Journal·Vincenzo MarottaMario Vitale
Dec 15, 2010·The Oncologist·Adrienne L MelckSally E Carty
Jul 3, 2013·Archives of Pathology & Laboratory Medicine·Andrew H FischerMojgan Amrikachi
Oct 2, 2013·World Journal of Surgery·Laura I WharryLinwah Yip
Aug 3, 2013·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Rashmi Kanagal-ShamannaKeyur P Patel
Feb 4, 2014·Virchows Archiv : an International Journal of Pathology·Paula SoaresManuel Sobrinho-Simões
Jul 11, 2013·Thyroid : Official Journal of the American Thyroid Association·Markus EszlingerRalf Paschke
Jan 29, 2014·European Journal of Endocrinology·Debora L S DanilovicSuemi Marui
Jul 14, 2011·European Journal of Endocrinology·Vincenzo MarottaMario Vitale
Oct 12, 2010·Journal of Endocrinological Investigation·Furio PaciniMarco Capezzone
May 3, 2014·Journal of Endocrinological Investigation·Francesco NardiPaolo Vitti
Feb 14, 2014·Annals of Surgical Oncology·Patricia Aragon HanMartha A Zeiger
May 7, 2014·Thyroid : Official Journal of the American Thyroid Association·Michaele J ArmstrongYuri E Nikiforov
Jul 23, 2014·Best Practice & Research. Clinical Endocrinology & Metabolism·Markus EszlingerRalf Paschke
Jul 22, 2014·Otolaryngologic Clinics of North America·Linwah Yip, Robert L Ferris
Jul 23, 2014·Best Practice & Research. Clinical Endocrinology & Metabolism·Henning DrallePhuong Nguyen Thanh
May 9, 2014·Thyroid : Official Journal of the American Thyroid Association·Sylvie Beaudenon-HuibregtseEmmanuel Labourier
Feb 13, 2016·Nature Reviews. Endocrinology·Cristina RomeiRossella Elisei
Jul 1, 2011·Expert Opinion on Medical Diagnostics·Vincenzo MarottaMario Vitale
Jun 4, 2014·Endocrinology and Metabolism Clinics of North America·Sann Yu Mon, Steven P Hodak
May 27, 2014·The Surgical Clinics of North America·Sareh Parangi, Hyunsuk Suh
Jan 11, 2014·Critical Reviews in Oncology/hematology·Ozgur Omur, Yusuf Baran
Mar 1, 2014·Surgical Pathology Clinics·N Paul Ohori, Karen E Schoedel
Jul 10, 2012·Surgical Oncology·Denise Prado MomessoMario Vaisman

Citations

May 3, 2003·The Journal of Clinical Endocrinology and Metabolism·Marina N NikiforovaYuri E Nikiforov
Apr 23, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Yoram CohenWilliam H Westra
Jun 8, 2004·The Journal of Clinical Endocrinology and Metabolism·Mingzhao XingPaul W Ladenson
Aug 18, 2004·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Zubair W Baloch, Virginia A LiVolsi
Oct 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Giuliana SalvatoreMassimo Santoro
Apr 30, 2005·Cytopathology : Official Journal of the British Society for Clinical Cytology·R DominguesM J Bugalho
May 27, 2006·European Journal of Endocrinology·Furio PaciniEuropean Thyroid Cancer Taskforce
Aug 31, 2007·Thyroid : Official Journal of the American Thyroid Association·Giuseppe PizzolantiCarla Giordano
Aug 7, 2008·The Journal of Clinical Endocrinology and Metabolism·Rossella EliseiFulvio Basolo
Mar 26, 2009·The Journal of Clinical Endocrinology and Metabolism·Yuri E NikiforovMarina N Nikiforova
Jun 19, 2009·Thyroid : Official Journal of the American Thyroid Association·Ivo MarchettiGeneroso Bevilacqua
Aug 21, 2009·Diagnostic Cytopathology·Giancarlo TronconeLucio Palombini
Oct 29, 2009·Thyroid : Official Journal of the American Thyroid Association·American Thyroid Association (ATA) Guidelines Taskforce on Thyroid Nodules and Differentiated Thyroid CancerR Michael Tuttle

Related Concepts

Adenoma, Trabecular
Fine-needle Biopsy
BRAF protein, human
Nodule
Proto-Oncogenes
Cytological Techniques
Test, Cytology, Digestive
Tumor Markers
Adenoma
Reverse Transcriptase Polymerase Chain Reaction

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