Lege Artis Medicinae

[Genetic background of thyroid cancers]

HALÁSZLAKI Csaba1,2, LAKATOS Péter1, KÓSA P. János1, BALLA Bernadett1, JÁRAY Balázs3, TAKÁCS István1

JANUARY 20, 2012

Lege Artis Medicinae - 2012;22(01)

[Molecular genetics has become an indispensable diagnostic tool in a number of diseases. The most frequent thyroid tumours are associated with genetic alterations that might be used for diagnostic purpose in the future. Somatic mutations and rearrangements in BRAF, RAS family RET/PTC and PAX8/PPAR-gamma genes may occur in papillary and follicular thyroid carcinomas. Other mutations of the RET gene can be found in medullary carcinomas (in sporadic as well as hereditary types), whereas mutations of the genes TP53, RAS, and BRAF are associated with poorly differentiated and anaplastic carcinomas. At present, the most reliable diagnostic tool for the differential diagnosis of thyroid nodules is fine-needle aspiration cytology. However, the existing malignancy cannot be unequivocally proven in up to 10-40% of all samples. On the basis of previous results, genetic examination of fine needle aspiration samples from thyroid nodules can contribute to a more precise diagnosis and the timely removal of potentially malignant nodules.]

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika
  2. Fôvárosi Önkormányzat Szent János Kórháza és Észak-Budai Egyesített Kórházai: Szent Margit Kórház IV. Sz. Belgyógyászati Osztály
  3. Semmelweis Egyetem, II. Sz. Patológiai Intézet

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