Papillary thyroid carcinoma in a 9‐year‐old girl with ataxia‐telangiectasia

Abstract

A 9-year-old female with ataxia-telangiectasia (AT) presenting with papillary thyroid carcinoma and lymph nodes involvement is reported. We discuss this novel association, the general risk of neoplasic complications in these patients, the natural history of thyroid carcinoma in the pediatric population and the potential link between thyroid carcinogenesis and ataxia-telangiectasia mutated gene (ATM) mutation. We also expose our therapeutic attitude, according to both clinical status and particular genetic background of our patient.

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

“…There is only one other A-T child reported by Brasseur et al 3 ; that was a 9-yearold girl with papillary carcinoma. Suarez et al 13 identified 279 patients with A-T and revealed 69 patients with cancer.…”

“…Other features include retardation of somatic growth, premature aging, radiosensitivity and predisposition to cancer 2 . Definitive diagnosis is made by revealing a disease causing mutation on ATM gene which was identified in 1995 in 11q22-23, coding for a protein implicated in genomic homeostasis in case of radio-induced DNA double-strand breaks [1][2][3] .…”

Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street

“…Patients with A-T have an increased incidence of neoplasms, especially lymphoma and leukaemia, but also breast, liver, gastric, and oesophageal malignancies [ 79 ]. Patients with A-T and thyroid cancer have been reported [ 80 ]. Cells from patients with A-T have an increased sensitivity to ionizing radiation, so standard radiotherapy/radiomimetic drugs to treat cancer should be avoided/used with caution.…”

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.…”