An unusual manifestation: papillary thyroid carcinoma in a patient with ataxia-telengiectasia
| Autor: | Ezgi Ulusoy, Guzide Aksu, Samim Özen, Yeşim Ertan, Necil Kutukculer, Damla Gökşen, Neslihan Edeer-Karaca, Şükran Darcan |
|---|---|
| Přispěvatelé: | Ege Üniversitesi |
| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty Goiter Ataxia Adolescent Turkey medicine.medical_treatment Physical examination ataxia telengiectasia Iodine Radioisotopes Thyroid carcinoma Ataxia Telangiectasia 03 medical and health sciences 0302 clinical medicine medicine Humans Missense mutation Thyroid Neoplasms Disease-causing Mutation Child Immunodeficiency medicine.diagnostic_test business.industry Carcinoma Thyroidectomy medicine.disease Carcinoma Papillary Thyroxine Thyroid Cancer Papillary 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health papillary thyroid carcinoma Female medicine.symptom business 030215 immunology |
| Zdroj: | The Turkish Journal of Pediatrics. 58:442 |
| ISSN: | 0041-4301 |
| DOI: | 10.24953/turkjped.2016.04.018 |
| Popis: | WOS: 000398205800018 PubMed ID: 28276222 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. A 13-year-old Turkish girl was diagnosed with ataxia telengiectasia at the age of 8 years. When she was 12 years old, multi-nodular goiter was detected by physical examination and ultrasonography. She underwent thyroidectomy and histopathologic investigation revealed a papillary carcinoma with follicular variant. The patient received post-operative radioiodine therapy as well as L-thyroxine treatment because she had residual lesions. Up until now, she is the first Turkish child wit A-T and thyroid carcinoma described in the literature. |
| Databáze: | OpenAIRE |
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