An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia


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ULUSOY E., Edeer-Karaca N. , ÖZEN S. , ERTAN Y. , Goksen D. , AKSU G. , et al.

TURKISH JOURNAL OF PEDIATRICS, cilt.58, ss.442-445, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 58 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.24953/turkjped.2016.04.018
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayısı: ss.442-445

Özet

Ataxia-telangiectasia (A-T) is a rare autosomal recessive, multisystem, neurodegenerative disorder, characterized by oculocutaneous telangiectasias, variable immunodeficiency and progressive neurological impairment. Definitive diagnosis is made by revealing a disease causing mutation on ATM gene. Missense mutations and polymorphisms of ATM gene can play a role in the development of thyroid papillary carcinoma.