Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.
Adult ; Blood Glucose ; Codon ; Diagnosis ; Endocrine System Diseases ; Exons ; Frameshift Mutation ; Germ-Line Mutation* ; Head ; Humans ; Hypercalcemia ; Hyperparathyroidism* ; Hypoglycemia ; Informed Consent ; Insulinoma* ; Male ; Multiple Endocrine Neoplasia Type 1* ; Nucleic Acids ; Pancreas ; Parathyroid Glands ; Sequence Analysis, DNA ; Unconsciousness

PURPOSE: Thyroid nodules are a common disease in clinical practice. The prevalence of thyroid nodules has recently increased according to the development of thyroid ultrasonography. Thyroid nodules are more commonly found in women, but the potential for malignant nodules is much higher in men. The purpose of this study was to assess clinical characteristics and the incidence of thyroid nodules and malignancy in the adult male population. METHODS: Clinical characteristics and incidence of thyroid nodules was examined by screening ultrasonography targeting 6,968 male patients over the age of 40 who visited the National Police Hospital from January 2012 and April 2015. RESULTS: Among 6,968 male patients, 2,481 (35.6%) showed abnormal findings on ultrasonography. Of the 2,481 patients, 2,370 patients (34.01%) had a thyroid nodule and 111 patients (4.47%) had thyroiditis without a thyroid nodule, previous thyroidectomy, lymphadenopathy, esophageal diverticulum, parathyroid cyst, and benign calcification. Of the 2,481 patients, 958 patients (38.6%) had abnormal TFT and 204 patients (8.22%) had thyroiditis with or without a thyroid nodule. Thyroid nodules were benign in 1993 (80.33%) cases, indeterminate in 313 (12.61%) cases, and suspicious in 64 (2.56%) cases. Among the 2,481 subjects, thyroid cancer was detected in 37 subjects (1.49%). CONCLUSION: The incidence of thyroid nodules has recently increased according to the development of thyroid ultrasonography.
Adult ; Diverticulum, Esophageal ; Female ; Humans ; Incidence* ; Lymphatic Diseases ; Male* ; Mass Screening ; Police ; Prevalence ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroid Nodule* ; Thyroidectomy ; Thyroiditis ; Ultrasonography

PURPOSE: We assessed the prognostic value of AMES to determine the extent of surgery in PTC patients, and compared AMES score usefulness and accuracy with [18F] FDG PET/CT. METHODS: We conducted a review of data from a single center and a single surgeon, who treated 341 patients with PTC with total thyroidectomy and prophylactic bilateral CLN dissection at a tertiary referral center, Chungnam National University Hospital, between 2001 and 2012. RESULTS: In multivariate analysis, the rate of CLN metastasis was considerably higher in PTC patients with the higher AMES score (odds ratio [OR], 1.718; 95% confidence interval [CI], 1.073~2.752), higher SUV of the CLN (>0) (OR, 6.525; CI, 3.184~13.371), higher SUV of the tumor (>4.3) (OR, 1.855; CI, 1.065~3.231). CONCLUSION: The AMES score is helpful in deciding whether to perform a CLN dissection, as there is a strong association between the AMES score and CLN metastasis. This high predictive value of CLN metastasis can help determine the extent of PTC surgery while considering the cost and effort.
Chungcheongnam-do ; Humans ; Multivariate Analysis ; Neoplasm Metastasis* ; Positron-Emission Tomography and Computed Tomography ; Tertiary Care Centers ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy

PURPOSE: Fine needle aspiration (FNA) is a useful preoperative diagnostic tool for thyroid nodule because of the high sensitivity and specificity. The aim of this study is to determine the necessity of intraoperative frozen section (IOFS) after fine needle aspiration. METHODS: Data of 534 patients with a single thyroid nodule who underwent thyroidectomy from June 2006 to August 2013 were reviewed retrospectively. FNA was performed preoperatively in all patients and IOFS was performed selectively according to the intraoperative findings and FNA results. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of FNA and IOFS for malignant nodules were analyzed. RESULTS: The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of FNA for malignant nodules were 100%, 95.5%, 99.8%, 100%, and 99.8%, respectively. All nodules diagnosed as benign by FNA were reaffirmed as benign nodules by permanent sections. When the result of FNA was suspicious for malignancy, specific features of preoperative ultrasound, including hypoechoic, size<10 mm showed high positive predictive value and accuracy (98%, 86.9%, and 100%, 78.7% respectively). CONCLUSION: Performance of IOFS was not necessary when the result of FNA was consistent with malignancy or benign. However when the result of FNA was non-diagnostic or atypia, IOFS should be performed for more accurate detection of malignancy. When the result of FNA is suspicious for malignancy, IOFS is restrictively useful for excluding benign nodules using the features of ultrasound. In addition, IOFS is not useful in finding malignant thyroid nodules when the result of FNA is follicular neoplasm.
Biopsy, Fine-Needle* ; Frozen Sections* ; Humans ; Retrospective Studies ; Sensitivity and Specificity ; Thyroid Gland* ; Thyroid Nodule* ; Thyroidectomy ; Ultrasonography

Robotic thyroidectomy has been a good option in the treatment of benign and early stage differentiated thyroid cancers, with several functional benefits. In the last few years, many surgeons have established their own robotic thyroidectomy techniques, and published many reports on the feasibility, safety and benefits of their robotic procedures. Although there are many different surgical techniques, robotic thyroidectomy can be classified according to the different means of remote access to the thyroid gland. Each method has advantages and disadvantages, and surgeons have modified each procedure in an effort to eliminate its shortcomings. With the remarkable innovation of robotic instruments and patient selection based on the appropriate indications, robotic thyroidectomy may usher a paradigm shift for thyroid surgery in the near future.
Patient Selection ; Thyroid Gland ; Thyroidectomy*

Hyalinizing trabecular tumor (HTT), a type of thyroid lesion, was first reported by Carney in 1987 and has since been reported continuously. Due to its histological non-specificity, HTT can be misdiagnosed as papillary thyroid cancer or medullary thyroid cancer. For this reason, over treatment might occur; for example, total thyroidectomy and lymphadenectomy. Diagnosis and treatment is a challenge because there is still controversy regarding HTT characters. We report on two cases. One patient was a 48-year-old female and the other was a 46-year-old female. Both patients complained of a thyroid mass and were diagnosed as HTT.
Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Hyalin* ; Lymph Node Excision ; Middle Aged ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroidectomy

Medullary thyroid carcinoma and papillary thyroid carcinoma are different subtypes of thyroid carcinoma. The concomitant occurrence of medullary thyroid carcinoma and papillary thyroid carcinoma as a collision tumor is rare. We describe five cases of medullary and papillary thyroid carcinoma as a collision tumor. Four women and one man underwent thyroidectomy for treatment of thyroid cancer. Collision tumor was then detected by histopathologic finding. Genetic testing, point mutation of the BRAF gene or mutation of the RET gene was performed in three cases. However, only one case had point mutation of the BRAF gene. Exact diagnosis of this uncommon event is important because the strategies for treatment of papillary thyroid carcinoma and medullary thyroid carcinoma are different.
Diagnosis ; Female ; Genetic Testing ; Humans ; Point Mutation ; Thyroid Neoplasms* ; Thyroidectomy

PURPOSE: Prolonged immunosuppression after kidney transplantation (KT) is known to increase the risk of various cancers; however, few studies on posttransplant thyroid carcinoma (TC) have been reported in the literature. We investigated the incidence of posttransplant malignancies (PTMs) and the clinicopathological features of postransplant TC. METHODS: We conducted a retrospective study of 1,622 patients who underwent KT from Mar. 1969 to Dec. 2008. Overall incidence and the standardized incidence ratio (SIR) of posttransplant TC according to the 2007 annual report of the Korea Cancer Center Registry were calculated. RESULTS: During the mean follow-up period of 109 months, 137 (8.4%) recipients were identified as having PTM, including five males and seven females with papillary TC. (0.74%) SIR of the TC was 12.4 in males and 0.5 in females. During the mean follow-up period of 69.1 months, three (25.0%) patients with TC developed loco-regional recurrence. CONCLUSION: Overall incidence of TC was higher compared to the general Korean population (0.74% vs 0.04%) without differences in gender distribution (P=0.086) and higher tendency of locoregional recurrence in clinical carcinoma (P=0.0512). Therefore, to ensure early detection and favorable outcome of posttransplant TC, frequent surveillance using ultrasonography and prophylactic central neck dissection should be considered.
Allografts* ; Female ; Follow-Up Studies ; Humans ; Immunosuppression ; Incidence* ; Kidney Transplantation ; Korea ; Male ; Neck Dissection ; Recurrence ; Retrospective Studies ; Thyroid Neoplasms* ; Ultrasonography

PURPOSE: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to summarize the characteristics of germline MEN1 mutation in Korea. METHODS: We retrieved the relevant literature regarding MEN1 germline mutation in Korea using the Pubmed (http://www.pubmed.org/) and Koreamed (http://www.koreamed.org/) databases from 2000 to 2012. We evaluated the pedigree of the patients in order to exclude the same, repeated families. We collected all data on the types of mutations and clinical characteristics. RESULTS: There were nine studies with 12 cases of MEN1 mutations in Korea. Two cases were sporadic MEN-1. C.196_200dupAGCCC was reported in three families. There were six cases of frameshift mutation, three cases of missense mutation, two cases of nonsense mutation, and one case of splice site mutation. Five mutations were novel mutations not previously reported. CONCLUSION: We summarized the characteristics of germline MEN1 mutations in Korea. Genetic testing of MEN1 is rare in Korea; however, it will be useful in preclinical diagnosis and genetic counseling.
Codon, Nonsense ; Diagnosis ; Frameshift Mutation ; Genetic Counseling ; Genetic Testing ; Germ-Line Mutation ; Humans ; Korea ; Multiple Endocrine Neoplasia Type 1* ; Mutation, Missense ; Pedigree

Cervical lymph node metastasis is common in patients with differentiated thyroid carcinoma (DTC). Lateral neck node metastases are a significant consideration in surgical management of patients with DTC. However, the optimal extent of therapeutic lateral neck dissection remains controversial. Optimizing the surgical extent of lymph node dissection is fundamental to balancing the surgical morbidity and oncological benefits in DTC patients with lateral neck metastasis. Consideration of the individualized appropriate surgical extent of lateral lymph node is important in treatment of DTC patients.
Humans ; Lymph Node Excision ; Lymph Nodes ; Neck Dissection ; Neck* ; Neoplasm Metastasis ; Thyroid Neoplasms*