Thyroid nodules on chest CT of patients with tuberous sclerosis complex

Abstract

A few cases of thyroid disease have been reported in tuberous sclerosis complex (TSC); however, studies on prevalence and characterization of lesions have not been done. Patients with TSC are routinely screened using chest CT for assessment of lung disease. Incidental thyroid findings on chest CT have been reported in large studies of the general population. The purpose of this study is to evaluate the frequency and type of thyroid anomalies in a cohort of TSC patients. We performed a retrospective review of 93 patients with a definite diagnosis of TSC, who had a chest CT. Images of the thyroid gland and final radiological report were reviewed. Reports of additional thyroid studies performed in some patients were also reviewed. Thyroid abnormalities were present in 19 of 93 (20.4%) patients. They consisted mainly of hypodense lesions categorized as nodules. Multiple nodules were found in 10 patients (52.6%). There was one papillary carcinoma. Thyroid gland lesions may be part of the clinical spectrum of TSC. They are usually asymptomatic. As some cases of thyroid carcinoma have been described in TSC, ultrasound exams are recommended, given that CT is not the gold standard technique for thyroid evaluation.

Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report

“…Patients with tsc should therefore regularly undergo abdominal ultrasonography examination, magnetic resonance imaging of the head, and chest ct for assessment of lung disease. Given that some cases of thyroid carcinoma have been described in tsc, ultrasonography exams are recommended, given that ct is not the "gold standard" technique for thyroid evaluation 24 .…”

Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex

“…There are several reports of thyroid lesions in patients with TSC. Auladell et al retrospectively reviewed chest computed tomography scans of 93 patients with TSC [19], and found thyroid abnormalities in 19 (20.4%) patients. However, a histological examination was performed only in two cases (one follicular adenoma, one papillary carcinoma).…”

“…We encountered three cases of primary thyroid carcinoma exhibiting unique microscopic findings that have never been described previously to the best of our knowledge. The patients were adolescents or young 19 (RCK108, 250 dilution, Dako, Glostrup, Denmark), the anti-mitochondria antibody (AMA) (MTC02, 1.5 dilution, NeoMarkers, Fremont, CA, USA), calcitonin (polyclonal, 2 dilution, Dako, Glostrup, Denmark), carcinoembryonic antigen (COL1, 3 dilution, HISTOFINE, Tokyo, Japan), GATA3 (L50-823, 400 dilution, Biocare Medical, Concord, CA, USA), CD10 (56C6, 100 dilution, Novocastra, Newcastle, UK), CD117 (polyclonal, 50 dilution, Dako, Carpinteria, CA, USA), p63 (4A4, 1 dilution, HISTOFINE, Tokyo, Japan), E-cadherin (NCH38, 100 dilution, Glostrup, Denmark), MUC1 (Ma695, 100 dilution, Novocastra, Newcastle, UK), p53 (DO7, 1000 dilution, Dako, Glostrup, Denmark), and Ki-67 (MIB1, 200 dilution, Glostrup, Denmark). The mutational status of the BRAF (exon 15), NRAS, HRAS and KRAS (exons 2 and 3) genes was examined as described previously (case 1 and 2, [6]; case 3, [7]).…”

Less common manifestations in TSC

“…A retrospective review of chest computed tomography (CT) scans of 93 patients with TSC found abnormalities in 20.4% of patients, that were mainly had nodules, which were multiple in 52.6% and one patient had a papillary carcinoma (Auladell, Boronat, Barber, & Thiele, 2015). A case of this type of carcinoma has been reported in other cases with TSC, including a 13-year-old boy (Flader et al, 2017).…”