A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma / 고신대학교의과대학학술지

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4–12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.

Ultrasonographic Characteristics of the Follicular Variant Papillary Thyroid Cancer According to the Tumor Size

Follicular variant papillary thyroid cancer (FVPTC) is the second most common subtype after conventional PTC. We compared ultrasonographic (US) features of FVPTC to those of conventional PTC according to tumor size. We reviewed US findings, pathologic reports, and medical charts of 249 PTC patients with surgically proven disease (83 FVPTCs, 166 conventional PTCs) at our institution from January 2007 to December 2012. FVPTCs were divided into PTC-like and follicular neoplasm (FN)-like based on sonographic characteristics. PTC-like features were defined as having at least one malignant feature (taller-than-wide shape, infiltrative margin, marked hypoechogenicity, and micro-calcifications), whereas FN-like cancers showed oval solid features without malignant features. FVPTCs showed a higher rate of FN-like features than conventional PTCs. Of 166 conventional PTCs, 13 (7.8%) had FN-like features and 153 (92.2%) had PTC-like features, whereas of the 83 FVPTCs, 31 (37.3%) had FN-like features and 52 (62.7%) had PTC-like features. Macro-FVPTCs showed a higher rate of FN-like features than micro-FVPTCs (P < 0.001). Of 21 macro-FVPTCs, 18 (85.7%) had FN-like features and 3 (14.3%) had PTC-like features, whereas of the 62 micro-FVPTCs, 13 (21%) had FN-like features and 49 (79%) had PTC-like features. There were no differences in multifocality, extrathyroidal invasion, and lymph node metastasis between PTC-like FVPTCs and FN-like FVPTCs. FVPTCs showed fewer sonographic malignant features than conventional PTCs. In particular, FVPTCs larger than 1 cm had a more frequent benign sonographic appearance. Therefore, if fine-needle aspiration result is suspicious for PTC in a nodule larger than 1 cm with no suspicious US features, the possibility of FVPTC might be considered.

A Case of Bilateral Adrenal Myelolipomas with Congenital Adrenal Hyperplasia / 대한내과학회지

Adrenal myelolipoma (AML) is a rare, usually benign, and nonfunctioning tumor. About 7-15% of adrenal incidentalomas are AMLs, composed of normal hematopoietic elements and mature adipose tissue. AML is usually unilateral and < 4 cm. It is often discovered incidentally on abdominal computed tomography or magnetic resonance imaging. It is related to a chronic increase in adrenocorticotropic hormone, such as that observed in patients with congenital adrenal hyperplasia, Cushing disease, Conn's syndrome, and pheochromocytoma. Here, we report a 28-year-old man diagnosed with non-salt-losing congenital adrenal hyperplasia with huge bilateral AMLs and a literature review.

A Calcitonin-Negative Neuroendocrine Tumor Derived from Follicular Lesions of the Thyroid

Neuroendocrine lesions of the thyroid are rare. The most common types are medullary thyroid carcinomas (MTCs) and C-cell hyperplasia. MTCs originate from thyroid parafollicular cells that secrete calcitonin which serves as a serum marker of MTCs. Here, the rare case of a calcitonin-negative neuroendocrine tumor (NET) derived from follicular lesions of the thyroid is described. A 34-year-old man presented at our hospital for the surgical management of an incidental thyroid nodule that was observed on an ultrasound sonography (USG) of the neck. Initially, USG-guided aspiration cytology was performed, and a MTC was suspected. The expressions of thyroglobulin and thyroid transcription factor-1, which are thyroid follicular cell markers, and synaptophysin and chromogranin A, which are neuroendocrine markers, was confirmed following surgical pathology. However, the staining of calcitonin, a marker of MTCs, was not observed. A nonmedullary NET of the thyroid is uncommon, and the distinction between calcitonin-negative NETs and MTCs of the thyroid may be important due to differences in their clinical courses and management.

Recurrent thymic carcinoid tumor in familial isolated primary hyperparathyroidism / 영남의대학술지

Familial isolated primary hyperparathyroidism(FIPH) is associated with multiple endocrine neoplasia type 1 (MEN1) syndrome, primary hyperparathyroidism accompanied by jaw-tumor syndrome, and familial hypocalciuric hypercalcemia. FIPH may be an early stage of MEN1 or an allelic variant of MEN1. Thymic carcinoid tumor is a rare tumor in MEN1 syndrome. Here, the authors report the case of a 40-year-old man diagnosed with recurrent thymic carcinoid tumor and FIPH. Both the patient and his elder sister had been previously diagnosed to have FIPH with a novel frameshift mutation in the MEN1 gene. Initially, the patient underwent thymectomy because of an incidental finding of a mediastinal mass in his chest X-ray, and had remained asymptomatic over the following 4 years. Pancreas computed tomography conducted to evaluate MEN1 syndrome revealed anterior and middle mediastinal masses, and resultantly, massive mass excision was performed. Histological findings disclosed atypical carcinoids with infiltrative margins. In view of the thymic carcinoid tumor relapse that occurred in this patient, the authors recommend that regular pancreas and pituitary imaging studies be conducted for FIPH associated with a MEN1 gene mutation.

Diagnostic Whole-Body Scan May Not Be Necessary for Intermediate-Risk Patients with Differentiated Thyroid Cancer after Low-Dose (30 mCi) Radioactive Iodide Ablation

BACKGROUND: A diagnostic whole-body scan (WBS) is recommended 6 to 12 months after total thyroidectomy and radioactive iodide ablation in intermediate- or high-risk patients with differentiated thyroid cancer (DTC). The aim of this study was to evaluate the necessity of a diagnostic WBS after radioactive iodide ablation in intermediate-risk patients with DTC. METHODS: A total of 438 subjects were included in the study: 183 low-risk subjects and 255 intermediate-risk subjects according to the American Thyroid Association guideline. All subjects diagnosed with DTC received 1,100 MBq (30 mCi) activity of radioiodine (I-131) following total thyroidectomy. On follow-up, all subjects underwent a diagnostic I-131 WBS after thyroid hormone withdrawal. RESULTS: After initial radioactive iodide ablation, 95.1% of low-risk patients and 91.4% of intermediate-risk patients showed no uptake on diagnostic WBS (P=0.135). Intermediate-risk patients with stimulated thyroglobulin (Tg) levels higher than 2.0 ng/mL showed a greater rate of radioactive iodine uptake on diagnostic WBS. Four intermediate-risk patients showed recurrence during the 16 to 80 months follow-up period. Three of the four patients with recurrence showed no uptake on diagnostic WBS and had a stimulated Tg level less than 2.0 ng/mL. CONCLUSION: A diagnostic I-131 WBS after radioactive iodide ablation in intermediate-risk patients with DTC may not be necessary. A large prospective study is necessary to determine the necessity of diagnostic WBS in intermediate-risk patients with DTC.

Guidelines for the Diagnosis and Management of Thyroid Disease during Pregnancy and Postpartum / 대한갑상선학회지

No abstract available.

A Case of Graves' Disease Following Subacute Thyroiditis Presented with Creeping / 대한갑상선학회지

The occurrence of Graves' disease following subacute thyroiditis (SAT) is rare. The pathophysiology of it is not well known. We report a case of Graves' disease following SAT presented with creeping. A 45-year-old woman presented with neck pain, and thyrotoxic symptoms. Neck pain migrated from left lobe to right lobe of the thyroid. Thyroid scan revealed decreased uptake in the both lobes except the superior portion of the right thyroid gland. Initially, the patient was diagnosed with SAT and treated with steroid therapy. Four months later, thyroid function test showed suppressed thyroid-stimulating hormone (TSH), elevated free thyroxine (T4) and TSH receptor antibody. Thyroid scan revealed increased uptake compatible with Graves' disease. The autoimmune alteration after SAT may lead to the development of Graves' disease in the susceptible patients. These patients should be monitored for the development of Graves' disease.

Response: Diagnostic Whole-Body Scan May Not Be Necessary for Intermediate-Risk Patients with Differentiated Thyroid Cancer after Low-Dose (30 mCi) Radioactive Iodide Ablation (Endocrinol Metab 2014;29:33-9, Eon Ju Jeon et al.)

No abstract available.

A Case of Adrenal Tuberculosis with Atypical Clinical Manifestation / 고신대학교의과대학학술지

Addison's disease is a rare disorder that causes fatigue, genral weakness, weight loss, pigmentation due to adrenal hypofunction and it's underlying causes are various. We report a case of 42-year-old man with fatigue, generalized cutaneous pigmentation. Computed tomography showed bilateral adrenal enlargement, but no calcification. Adrenal tuberculosis was established by ultrasound-guided fine needle aspiration biopsy.

A Case of Dopamine-Secreting Pheochromocytoma

A pheochromocytoma is a neuroectodermal tumor that originates from the chromaffin cells of the sympathetic system. It has typical symptoms or signs, such as periodic attacks of paroxysmal hypertension, palpitation, headache, and sweating, related to an increased catecholamine secretion. Types of catecholamine secreted from tumors are usually norepinephrine and epinerphrine. There are a few reports of dopamine-secreting pheochromocytoma with absence of other catecholamines secretion. Here, we report the case of a 59-year-old man with dopamine-secreting pheochromocytoma, with no typical symptoms or signs.

Association between Serum Thyroid Stimulating Hormone Level and Papillary Thyroid Microcarcinoma in Korean Euthyroid Patients

BACKGROUND: Thyroid cancer is a common disease and its prevalence is increasing. Recent reports have shown that an elevated thyrotropin (thyroid stimulating hormone, TSH) level is associated with thyroid cancer risk. However, the association between TSH level and thyroid cancer risk is not yet known for euthyroid patients diagnosed with papillary thyroid microcarcinoma (PTMC). METHODS: Our study included 425 patients who underwent thyroid surgery and were diagnosed with PTMC between 2008 and 2009. Control group patients were diagnosed with benign nodules < or = 1 cm in size by US-guided fine needle aspiration. Nodules with one or more suspected malignant-ultrasonographic feature(s) were excluded from this study. Patients who were not euthyroid or who took thyroid medication were also excluded. RESULTS: The mean age of all patients was 48.5 +/- 11.0 years and 88.8% were women. The mean age of those with PTMC was significantly lower than that of the control group. The mean TSH level was 1.78 +/- 0.93 mIU/L, and the mean free T4 level was 15.96 +/- 2.32 pmol/L. There was no difference in TSH level between the PTMC and control groups (1.77 +/- 0.93 mIU/L vs. 1.79 +/- 0.91 mIU/L, P = 0.829). After adjusting for age, TSH level was not correlated with tumor size (r = 0.02, P = 0.678) in the PTMC group. Moreover, the TSH level did not differ between patients with stage I and stage III-IV carcinoma (stage I, 1.77 +/- 0.95 mIU/L; stage III-IV, 1.79 +/- 0.87 mIU/L; P = 0.856). CONCLUSION: TSH levels are not elevated in euthyroid PTMC patients. Thus, further evaluation is needed before serum TSH can be used as a tumor marker for small nodules < or = 1 cm in size in euthyroid patients.

A Case of Pheochromocytoma Presenting as Syncope Due to Orthostatic Hypotension

Patients with pheochromocytoma manifest with headache, perspiration, and palpitation. Although most patients have either sustained or paroxysmal hypertension, some patients present with hypotension. However, severe orthostatic hypotension is relatively rare in patients with pheochromocytoma. We report here on a 72-year-old woman with pheochromocytoma and she presented with recurrent syncope due to hypotension and blood pressure fluctuation. Syncope due to hypotension is unusual in patients with pheochromocytoma and only a few such cases have been reported. The present case serves to illustrate an unexpected presentation of this tumor.

Letter: Postoperative Findings of the Cytological Diagnosis of Follicular Neoplasm or Hurthle Cell Neoplasm and the Risk of Malignancy

No abstract available.

A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation

Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that is characterized by an early stage of either multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor (HPT-JT) syndrome. We report here on a case of a 42-years old woman who was diagnosed with papillary thyroid cancer and primary hyperparathyroidism. Her younger brother also had primary hyperparathyroidism. On the genetic analysis, they were both proven to have a novel frameshift mutation in the MEN1 gene (exon 10).

Microarray Analysis of Papillary Thyroid Cancers in Korean

BACKGROUND/AIMS: Papillary thyroid cancer (PTC) is the most common malignancy of the thyroid gland. It involves several molecular mechanisms. The BRAF V600E mutation has been identified as the most common genetic abnormality in PTC. Moreover, it is known to be more prevalent in Korean PTC patients than in patients from other countries. We investigated distinct genetic profiles in Korean PTC through cDNA microarray analysis. METHODS: Transcriptional profiles of five PTC samples and five paired normal thyroid tissue samples were generated using cDNA microarrays. The tumors were genotyped for BRAF mutations. The results of the cDNA microarray gene expression analysis were confirmed by real-time PCR and immunohistochemistry analysis of 35 PTC patients. RESULTS: Four of the five patients whose PTC tissues were subjected to microarray analysis were found to carry the BRAF V600E mutation. Microarrays analysis of the five PTC tissue samples showed the expression of 96 genes to be increased and that of 16 genes decreased. Real-time reverse transcription-polymerase chain reaction (RT-PCR) confirmed increased expression of SLC34A2, TM7SF4, COMP, KLK7, and KCNJ2 and decreased expression of FOXA2, SLC4A4, LYVE-1, and TFCP2L1 in PTC compared with normal tissue. Of these genes, TFCP2L1, LYVE-1, and KLK7 were previously unidentified in PTC microarray analysis. Notably, Foxa2 activity in PTC was reduced, as shown by its cytoplasmic localization, in immunohistochemical analyses. CONCLUSIONS: These findings demonstrate both similarities and differences between our results and previous reports. In Korean cases of PTC, Foxa2 activity was reduced with its cytoplasmic accumulation. Further studies are needed to confirm the relationship between FOXA2 and BRAF mutations in Korean cases of PTC.

Three Cases of Primary Thyroid Lymphoma at a Single Institution / 영남의대학술지

Primary thyroid lymphoma is a relatively rare thyroid tumor and usually a non-Hodgkin type. Its most common histologic type is the diffuse large B cell lymphoma followed by mucosa-associated lymphoid tissue (MALT). It is known to be frequently associated with autoimmune thyroiditis such as Hashimoto's thyroiditis. We report three cases of thyroid lymphoma at a single institution with a review of the literature.

Two Cases of Albright's Hereditary Osteodystrophy Occurring in Pseudopseudohypoparathyroidism / 대한피부과학회지

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.

Two Cases of Albright's Hereditary Osteodystrophy Occurring in Pseudopseudohypoparathyroidism / 대한피부과학회지

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.

A Case of Parathyroid Adenoma Presenting as Acute Pancreatitis Accompanied with Empty Sella / 영남의대학술지

The incidence of coexisting hyperparathyroidism and empty sella syndrome is rare and the etiology and incidence of their coexistence is not known. The association of hyperparathyroidism and the empty sella syndrome may be related to multiple endocrine neoplasia (MEN) syndrome due to a genetic disorder. We experienced a rare case of hyperparathyroidism presenting as acute pancreatitis combined with empty sella. We report here a 37-year old female who manifested epigastric pain because of acute pancreatitis. She had hypercalcemia due to parathyroid adenoma. A pituitary gland was not visible in the sella turcica on MRI scans. On genetic analysis, she did not show a mutation of the MENIN gene. Empty sella is thought to be a coincidental finding with hyperparathyroidism.