Resistance to thyroid hormone (RTH) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features. The magnitude of RTH is caused by mutations in the thyroid hormone receptor beta (TRbeta) gene. We recently treated a 38-yr-old woman with RTH who had incidental papillary thyroid carcinoma. She presented with goiter and displayed elevated thyroid hormone levels with an unsuppressed TSH. She was determined to harbor a missense mutation of M310T in exon 9 of the TRbeta gene, and diagnosed with generalized RTH. This mutation has not yet been reported in Korea. RTH is very rare and easily overlooked, but should be considered in patients who present with goiter and elevated thyroid hormone levels with an unsuppressed TSH. The association between thyroid cancer and RTH needs further study.
Adult ; Diagnosis, Differential ; Exons ; Female ; Humans ; Mutation, Missense ; Thyroid Gland/radionuclide imaging ; Thyroid Hormone Receptors beta/genetics ; Thyroid Hormone Resistance Syndrome/complications/*diagnosis ; Thyroid Hormones/blood ; Thyroid Neoplasms/*complications/genetics/ultrasonography

PURPOSE: We investigated the merit of ultrasound (US) features and BRAF(V600E) mutation as an additional study of cytology and compared the diagnostic performances of cytology alone, cytology with US correlation, cytology with BRAF(V600E) mutation, and a combination of cytology, US, and BRAF(V600E) mutation all together. MATERIALS AND METHODS: This study included 185 patients (mean age, 48.4 years; range 20-77 years) with 191 thyroid nodules who underwent US-guided fine-needle aspiration (FNA) with an additional BRAF(V600E) mutation test. Three radiologists highly experienced in thyroid imaging retrospectively reviewed US images and classified each nodule into two categories (positive for malignancy or negative for malignancy). Interobserver variability (IOV) of US assessment between the three readers was estimated using the generalized kappa statistic of Landis and Koch. We also calculated the diagnostic performances of these studies. RESULTS: There were 131 cases of malignancy (131/191, 68.6%) and 60 cases of benign nodules (60/191, 31.4%). In terms of IOV of US assessment, the generalized kappa value was 0.242, indicating fair agreement was reached. The combination of cytology with BRAF(V600E) showed higher specificity (100%) and positive predictive value (PPV) (100%) compared to the combination of cytology, BRAF(V600E), and US (specificity 28.3%, 66.7%, 68.3%; PPV 74.6%, 86.6%, 86.8%, respectively; p<0.001). However, cytology with BRAF(V600E) showed lower sensitivity (84.7%) than cytology with BRAF(V600E) and US (96.2%, 98.5%, 95.4%, respectively; p<0.001). CONCLUSION: Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAF(V600E) is the most reliable and objective method for diagnosing thyroid malignancy.
Adult ; Aged ; Biological Markers ; Biopsy, Fine-Needle ; Carcinoma/*diagnosis/genetics/*ultrasonography ; Cytodiagnosis ; Female ; Humans ; Male ; Middle Aged ; Proto-Oncogene Proteins B-raf/*genetics ; Retrospective Studies ; Thyroid Gland/metabolism/pathology ; Thyroid Neoplasms/*diagnosis/genetics/*ultrasonography ; Thyroid Nodule/metabolism/pathology ; Young Adult

PURPOSE: We investigated the merit of ultrasound (US) features and BRAF(V600E) mutation as an additional study of cytology and compared the diagnostic performances of cytology alone, cytology with US correlation, cytology with BRAF(V600E) mutation, and a combination of cytology, US, and BRAF(V600E) mutation all together. MATERIALS AND METHODS: This study included 185 patients (mean age, 48.4 years; range 20-77 years) with 191 thyroid nodules who underwent US-guided fine-needle aspiration (FNA) with an additional BRAF(V600E) mutation test. Three radiologists highly experienced in thyroid imaging retrospectively reviewed US images and classified each nodule into two categories (positive for malignancy or negative for malignancy). Interobserver variability (IOV) of US assessment between the three readers was estimated using the generalized kappa statistic of Landis and Koch. We also calculated the diagnostic performances of these studies. RESULTS: There were 131 cases of malignancy (131/191, 68.6%) and 60 cases of benign nodules (60/191, 31.4%). In terms of IOV of US assessment, the generalized kappa value was 0.242, indicating fair agreement was reached. The combination of cytology with BRAF(V600E) showed higher specificity (100%) and positive predictive value (PPV) (100%) compared to the combination of cytology, BRAF(V600E), and US (specificity 28.3%, 66.7%, 68.3%; PPV 74.6%, 86.6%, 86.8%, respectively; p<0.001). However, cytology with BRAF(V600E) showed lower sensitivity (84.7%) than cytology with BRAF(V600E) and US (96.2%, 98.5%, 95.4%, respectively; p<0.001). CONCLUSION: Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAF(V600E) is the most reliable and objective method for diagnosing thyroid malignancy.
Adult ; Aged ; Biological Markers ; Biopsy, Fine-Needle ; Carcinoma/*diagnosis/genetics/*ultrasonography ; Cytodiagnosis ; Female ; Humans ; Male ; Middle Aged ; Proto-Oncogene Proteins B-raf/*genetics ; Retrospective Studies ; Thyroid Gland/metabolism/pathology ; Thyroid Neoplasms/*diagnosis/genetics/*ultrasonography ; Thyroid Nodule/metabolism/pathology ; Young Adult

Thyroid cancer may have small adipose structures detected by microscopy. However, there are no reports of thyroid cancer with gross fat evaluated by radiological methods. We reported a case of a 58-year-old woman with a fat containing thyroid mass. The mass was hyperechoic and ovoid in shape with a smooth margin on ultrasonography. On computed tomography, the mass had markedly low attenuation suggestive of fat, and fine reticular and thick septa-like structures. The patient underwent a right lobectomy. The mass was finally diagnosed as a follicular variant of papillary thyroid cancer with massive stromal fat.
Carcinoma/*diagnosis/pathology/ultrasonography ; Exons ; Female ; GTP Phosphohydrolases/genetics ; Humans ; Immunohistochemistry ; Membrane Proteins/genetics ; Middle Aged ; Mutation ; Thyroid Neoplasms/*diagnosis/pathology/ultrasonography ; Tomography, X-Ray Computed

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Arteriovenous Malformations/radiography ; Breast Neoplasms/*complications/*diagnosis/ultrasonography ; DNA/analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography ; Humans ; PTEN Phosphohydrolase/genetics ; Thyroid Neoplasms/radiography ; Tomography, X-Ray Computed ; Young Adult

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in Korea. A 33-yr-old man was diagnosed with a 0.7-cm sized thyroid nodule. Laboratory testing revealed serum calcitonin was elevated. The patient underwent total thyroidectomy with central compartment neck dissection for the thyroid tumor. RET gene analysis was performed in both the index patient and his family. There were no V804M RET mutation and abnormal laboratory findings within his family except the index patient. Therefore, this patient was a de novo V804M RET germline mutation.
Adult ; Calcitonin/blood ; Germ-Line Mutation ; Humans ; Male ; Pedigree ; Proto-Oncogene Proteins c-ret/*genetics ; Sequence Analysis, DNA ; Thyroid Neoplasms/*diagnosis/genetics/ultrasonography ; Thyroidectomy