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

Abstract

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.

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

“…It is characterized by oculocutaneous telangiectasia, progressive cerebellar ataxia, choreoathetosis, recurrent sinopulmonary infections and an increased risk for cancer. 8,9 Mutations in the ATM gene show a wide phenotypic spectrum from severe classical early-onset A-T to late-onset milder variant A-T. Clinical severity generally depends on the presence of ATM protein and kinase activity. 10 In variant form of A-T, movement disorders appear to dominate the clinical presentation.…”

Thyroid carcinoma in two patients with ataxia‐telangiectasia: Tailored diagnostic and therapeutic use of radioiodine

“…The high risk of cancer and radiosensitivity are known in AT patients but few data about the incidence of TC are available. Six cases of TC in patients affected by ATM were described [16][17][18][19][20] and three of them were diagnosed at autopsy (Table 1B). Surgery is the gold standard for managing thyroid cancer and total thyroidectomy is often recommended for PTC, which tends to occur bilaterally and multifocally.…”

Genetic susceptibility to hereditary non-medullary thyroid cancer

“…Patients with Ataxia-telangiectasia may present with cerebral ataxia, immunodeficiency, telangiectasia, radiation sensitivity, thymic atrophy, and various malignancies, particularly those with lymphoid origin [152]. Furthermore, mutations in the ATM gene have been implicated in PTC and fvPTC [153][154][155][156][157]. A Danish population-based study of 10,324 individuals identified an association between heterozygosity at ATM Ser707Pro and thyroid/endocrine cancer (HR = 10) [158].…”