title: An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia.
abstract: 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.
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Ezgi
authors.initials: E
authors.lastname: Ulusoy
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Edeer-Karaca
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Samim
authors.initials: S
authors.lastname: Özen
authors.affiliation: Departments of Pathology, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Ertan
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Damla
authors.initials: D
authors.lastname: Gökşen
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Güzide
authors.initials: G
authors.lastname: Aksu
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Darcan
authors.affiliation: Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.
authors.forename: Necil
authors.initials: N
authors.lastname: Kütükçüler
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications*; D002277:Carcinoma / Q000150:complications* / Q000628:therapy; D002291:Carcinoma, Papillary; D002648:Child; D005260:Female; D006801:Humans; D007457:Iodine Radioisotopes / Q000627:therapeutic use*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000150:complications* / Q000628:therapy; D013965:Thyroidectomy / Q000379:methods*; D013974:Thyroxine / Q000627:therapeutic use*; D014421:Turkey
chemical_list: D007457:Iodine Radioisotopes; D013974:Thyroxine
keywords: ataxia telengiectasia; papillary thyroid carcinoma