Genetic Mutations in Papillary Thyroid Carcinoma

Rodrigo Arrangoiz MS, MD, FACS, FSSO
  • Papillary thyroid carcinoma (PTC) is the most common subtype of thyroid cancer, and its genetics have been extensively studied. Here are some key genetic features and alterations associated with papillary thyroid carcinoma:
  • BRAF V600E mutation:
    • The BRAF V600E mutation is the most prevalent genetic alteration in PTC, occurring in approximately 40% to 60% of cases. This mutation leads to the activation of the MAPK signaling pathway, which plays a role in cell growth and proliferation. The presence of BRAF V600E mutation may be associated with a higher risk of disease recurrence and more aggressive tumor behavior.
  • RAS mutations:
    • RAS mutations, including NRAS and HRAS, are found in approximately 10% to 20% of PTC cases. These mutations also activate the MAPK signaling pathway, promoting cell growth and proliferation. RAS mutations are more common in older patients and are associated with a lower risk of disease recurrence compared to BRAF mutations.
  • RET/PTC rearrangements:
    • Rearrangements involving the RET gene, particularly RET/PTC1 and RET/PTC3, are found in a subset of PTC cases. These rearrangements result in the fusion of RET with other genes, leading to the constitutive activation of the RET tyrosine kinase. RET/PTC rearrangements are more commonly seen in radiation-induced PTC and are associated with a favorable prognosis.
  • Other genetic alterations:
    • Other less common genetic alterations found in PTC include NTRK rearrangements, EIF1AX mutations, and TERT promoter mutations. These alterations are present in a small proportion of PTC cases and may have implications for prognosis and targeted treatment strategies.
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Published by Rodrigo Arrangoiz MS, MD, FACS, FSSO

My name is Rodrigo Arrangoiz I am a breast surgeon/ thyroid surgeon / parathyroid surgeon / head and neck surgeon / surgical oncologist that works at Center for Advanced Surgical Oncology in Miami, Florida. I was trained as a surgeon at Michigan State University from (2005 to 2010) where I was a chief resident in 2010. My surgical oncology and head and neck training was performed at the Fox Chase Cancer Center in Philadelphia from 2010 to 2012. At the same time I underwent a masters in science (Clinical research for health professionals) at the University of Drexel. Through the International Federation of Head and Neck Societies / Memorial Sloan Kettering Cancer Center I performed a two year head and neck surgery and oncology / endocrine fellowship that ended in 2016. Mi nombre es Rodrigo Arrangoiz, soy cirujano oncólogo / cirujano de tumores de cabeza y cuello / cirujano endocrino que trabaja Center for Advanced Surgical Oncology en Miami, Florida. Fui entrenado como cirujano en Michigan State University (2005 a 2010 ) donde fui jefe de residentes en 2010. Mi formación en oncología quirúrgica y e n tumores de cabeza y cuello se realizó en el Fox Chase Cancer Center en Filadelfia de 2010 a 2012. Al mismo tiempo, me sometí a una maestría en ciencias (investigación clínica para profesionales de la salud) en la Universidad de Drexel. A través de la Federación Internacional de Sociedades de Cabeza y Cuello / Memorial Sloan Kettering Cancer Center realicé una sub especialidad en cirugía de cabeza y cuello / cirugia endocrina de dos años que terminó en 2016.

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