Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.

Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer.

Effectiveness of [(124)I]-PET/CT and [(18)F]-FDG-PET/CT for localizing recurrence in patients with differentiated thyroid carcinoma.

Although the prognosis of patients with differentiated thyroid carcinoma (DTC) is generally encouraging, a diagnostic dilemma is posed when an increasing level of serum thyroglobulin (Tg) is noted, without detection of a recurrent tumor using conventional imaging tools such as the iodine-131 whole-body scanning (the [(131)I] scan) or neck ultrasonography (US). The objective of the present study was to evaluate the diagnostic value of [(124)I]-PET/CT and [(18)F]-FDG-PET/CT in terms of accurate detection of both iodine- and non-iodine-avid recurrence, compared with that of conventional imaging such as the [(131)I] scan or neck ultrasonography (US). Between July 2009 and June 2010, we prospectively studied 19 DTC patients with elevated thyroglobulin levels but who do not show pathological lesions when conventional imaging modalities are used.

Postoperative functional voice changes after conventional open or robotic thyroidectomy: a prospective trial.

Purpose: To use objective and subjective voice function analysis to compare outcomes in patients who had undergone conventional open thyroidectomy or robotic thyroidectomy.

Methods: The study involved 88 consecutive patients who underwent thyroid surgery between May 2009 and December 2009; 46 patients underwent a conventional open thyroidectomy, and 42 underwent a robotic thyroidectomy. Auditory perceptual evaluation was used to make subjective assessments of voice function, and videolaryngostroboscopy, acoustic voice analysis with aerodynamic study, electroglottography, and voice range profile were used to make objective assessments.

The 70-gene prognostic signature for korean breast cancer patients.

Purpose: A 70-gene prognostic signature has prognostic value in patients with node-negative breast cancer in Europe. This diagnostic test known as "MammaPrint™ (70-gene prognostic signature)" was recently validated and implementation was feasible. Therefore, we assessed the 70-gene prognostic signature in Korean patients with breast cancer.

Allelic loss of susceptibility loci and the occurrence of BRAF and RAS mutations in patients with familial non-medullary thyroid cancer.

Objectives: Approximately 5% of non-medullary thyroid cancer (NMTC) diagnoses are made against a background of familial predisposition and, in such instances, the disease is termed familial non-medullary thyroid cancer (FNMTC). To date, neither genetic alterations causing FNMTC nor genes predisposing to the condition have been described. The objective of the present study was to evaluate loss of heterozygosity (LOH) at the four known susceptibility loci (fPTC/PRN, NMTC1, MNG1, and TCO1) and to compare the mutation rates of RAS/RAF genes in patients with FNMTC and sporadic NMTC.

Predictors of resolution of hypertension after adrenalectomy in patients with aldosterone-producing adenoma.

Primary aldosteronism (PA) is a frequent cause of secondary hypertension and is amenable to surgical intervention when it is caused by aldosterone-producing adenoma (APA). Many patients, however, continue to require antihypertensive medications to control their blood pressure after adrenalectomy. The aim of this study was to determine the preoperative factors that predict clinical outcomes after adrenalectomy in patients with APA.

Differences in postoperative outcomes, function, and cosmesis: open versus robotic thyroidectomy.

Background: Robotic thyroidectomy using a gasless transaxillary approach, first described in 2008, has become popular. This study compared outcomes, including postoperative distress and patient satisfaction, for patients undergoing robotic thyroidectomy with those for patients treated by conventional open thyroidectomy.

Methods: Of 84 prospectively enrolled patients, 41 underwent robotic thyroidectomy (the robot group), and 43 received conventional open thyroidectomy (the open group).