Role of BRAF(V600E) Mutation Analysis for Thyroid Nodules Classified as Indeterminate on Ultrasonography

PURPOSE: We aimed to evaluate a possible role for BRAF(V600E) mutation analysis of aspiration specimens in the work up of thyroid nodules classified as indeterminate on US. MATERIALS AND METHODS: A total of 122 nodules from 122 patients were prospectively classified as indeterminate nodules based on US findings. US-guided fine needle aspiration (FNA) was done for all 122 nodules. The presence of a BRAF(V600E) mutation in FNA specimens was determined by allele-specific PCR. RESULTS: US-indeterminate nodules were confirmed as malignant in 20.5% (25/122) of cases and benign in 76.2% (93/122) after FNA or surgery. A few (3.3% (4/122), remained indeterminate. A BRAF(V600E) mutation was identified in 14.8% (18/122) of USindeterminate nodules. Of those 18 nodules, three were benign and 13 were malignant after the initial FNA. One (0.8%, 1/122) with an initially benign cytology and a BRAF(V600E) mutation was confirmed to be malignant after surgery. The remaining two benign nodules with a mutation were not followed-up. All 9 initial FNA-nondiagnostic nodules were mutation negative but 2 (11.8%) of 17 indeterminate nodules on initial FNAs were mutation positive. CONCLUSION: BRAF(V600E) mutation analysis prevents false negative cytology for only 0.8% of cases and reduces ambiguous diagnoses for 1.6% of all US-indeterminate thyroid nodules. Therefore, adding BRAF(V600E) mutation analysis to FNA for US-indeterminate nodules is of limited usefulness.

Outcomes of US BI-RADS 4A, 4B, and 4C Lesions

PURPOSE: The aim of our study was to evaluate the outcomes of sonographic (US) BIRADS category 4 lesions according to subcategories 4A, 4B, and 4C and palpability. MATERIALS AND METHODS: We retrospectively reviewed the pathology results of 512 US BI-RADS category 4 lesions in 460 patients after ultrasound-guided percutaneous biopsy (n = 435) and surgical biopsy (n = 77). We analyzed the results according to subcategories 4A, 4B, 4C, and palpability, and compared outcomes of five breast radiologists. RESULTS: In BI-RADS 4A lesions (n = 302), biopsy results indicated 48 malignancies (15.9%). In BI-RADS 4B lesions (n = 113), biopsy revealed 69 malignancies (61.1%). Among BI-RADS 4C lesions (n = 97), 87 lesions were malignancies (89.7 %). Palpability had no correlation with the rate of malignancy in BI-RADS category 4 lesions, and the rate of malignancy for category 4A ranged widely from 8.1% - 26.4%. CONCLUSIONS: The outcomes of US BI-RADS category 4 lesions according to subcategories varied widely between radiologists, especially for 4A lesions. The US finding itself warrants a BI-RADS 4 subcategory. In category 4 lesions, the malignant rate was the same between palpable and nonpalpable lesions.

Metastatic Thymoma of the Breast

Breast metastasis from nonmammary malignant neoplasms is uncommon, and it accounts for approximately 2% of all breast tumors. Distant metastasis of thymoma is very rare, and especially to extrathorcic areas. We report a female who had a metastatic thymoma in her breast 20 years after undergoing resection for a non-invasive thymoma. She presented with a palpable mass in her left breast. Mammography and ultrasonogram showed a lobular mass at the anterior glandular portion. Histological examination after surgical excision revealed a metastatic thymoma.

Sonographic Findings of Thyroid Cancer Initially Assessed as No Suspicious Malignancy

PURPOSE: To review the retrospective imaging findings of thyroid cancer initially assessed as no suspicious malignancy. MATERIALS AND METHODS: Of 338 nodules confirmed to be thyroid cancer, this study included 38 patients with 39 nodules assessed as no suspicious malignancy on initial sonography. (mean age: 39 years, 36 females and 2 males). We evaluated sonographic findings by shape, margin, echogenecity, calcification, cystic degeneration and peripheral hypoechoic rim retrospecively. We analyzed whether sonographic findings were different according to the size (standard: 1 cm). RESULTS: The most frequent sonographic findings were ovoid to round shape 90%, well-defined smooth margin 64%, hypoechogenecity 54%, no calcification 92%, no cystic degeneration 77% and peripheral hypoechoic rim 56%. Suspicious malignancy findings were taller than wide shape 10%, well-defined spiculated margin 36%, markedly hypoechogenecity 10% and microcalcifications 8%. Isoechogenecity, cystic degenetaion and peripheral hypoechoic rim were common in 1 cm more than nodules. Well-defined spiculated margin was common in 1 cm less than nodules. In retrospective, 56% showed no suspicious malignancy finding. CONCLUSION: Although nodules assessed as no suspicious malignancy on initial US had many retrospectively suspicious malignancy findings, still many nodules showed no suspicious malignancy finding. Suspicious findings were ignored due to equivocal finding in small size, isoechogenecity, cystic degeneration or peripheral hypoechioic rim. We need careful observation.

Sonographic and Mammographic Features of Breast Apocrine Metaplasia

PURPOSE: To evaluate the sonographic and mammographic features of apocrine metaplasia of the breast. MATERIALS AND METHODS: We retrospectively evaluated the sonographic and mammographic findings of 16 lesions that were diagnosed with only apocrine metaplasia after mammotome excision. The age ranged from 27 years old to 57 years old (mean age; 40 years old). The sonographic features were interpreted by the ACR BI-RADS (American College of Radiology Breast Imaging Reporting and Data System) for shape, orientation, margin, boundary, echo pattern, posterior acoustic feature, calcification and special cases. The mammographic features were interpreted by the ACR BI-RADS (American College of Radiology Breast Imaging Reporting and Data System) for breast composition, shape, margin, density and calcification. RESULTS: Sonographic features were that the shapes were oval (n = 16) in 100%. The orientation was parallel (n = 15) in 94%. The margins were circumscribed (n = 8) in 50% and microlobulated (n = 8) in 50%. The echo patterns were hypoechoic (n = 8) in 50%, complex (n = 5) in 31% and anechoic (n = 3) in 19%. Posterior acoustic enhancement was seen in 69% (n = 11). There was internal microcyst (n = 4) in 25%. There was no calcification. Mammography performed for 12 cases demonstrated negative findings (n = 10) for 83%, obscured hypodense mass (n = 1) for 8% in 11 cases of breast composition 3 and 4, and circumscribed isodense mass (n = 1) for 8% in one case of breast composition 2. There was no calcification. The final assessment was category 4a (n = 7) in 44%, category 3 (n = 6) in 38% and category 2 (n = 3) in 19%. CONCLUSION: Although sonographic and mammographic features of apocrine metaplasia are occasionally suspicious malignancy such as microlobulation and complex echo. We consider the possibility of apocrine metaplasia if masses show internal microcyst and abrupt boundary.

Breast MRI for Evaluating Patients with Metastatic Axillary Lymph Node and Initially Negative Mammography and Sonography

OBJECTIVE: We wanted to investigate the ability of breast MR imaging to identify the primary malignancy in patients with axillary lymph node metastases and initially negative mammography and sonography, and we correlated those results with the conventional imaging. MATERIALS AND METHODS: From September 2001 to April 2006, 12 patients with axillary lymph node metastases and initially negative mammography and sonography underwent breast MR imaging to identify occult breast carcinoma. We analyzed the findings of the MR imaging, the MR-correlated mammography and the second-look sonography. We followed up both the MR-positive and MR-negative patients. RESULTS: MR imaging detected occult breast carcinoma in 10 of 12 (83%) patients. Two MR-negative patients were free of carcinoma in the ipsilateral breast during their follow-up period (39 and 44 months, respectively). In nine out of 10 patients, the MR-correlated mammography and second-look sonography localized lesions that were not detected on the initial exam. All the non-MR-correlated sonographic abnormalities were benign. CONCLUSION: Breast MR imaging can identify otherwise occult breast cancer in patients with metastatic axillary lymph nodes. Localization of the lesions through MR-correlated mammography and second-look sonography is practically feasible in most cases.

Is Surgical Excision Necessary for a Benign Phyllodes Tumor of the Breast Diagnosed and Excised by Ultrasound-guided Vacuum-assisted Biopsy Device (Mammotome)?

PURPOSE: Phyllodes tumors are characterized by a double-layered epithelial component arranged in cleft-like ducts surrounded by a hypercellular spindle-celled stroma. Currently, phyllodes tumors are classified as benign, borderline, or malignant based on microscopic features. The relatively high rate of recurrence is an unsolved management problem. If a malignant phllodes tumor is treated inadequately, it may show a propensity for rapid growth and metastatic spread. However, benign phyllodes tumor are often indistinguishable from fibroadenoma, and can be cured by local surgery. Percutaneous removal of benign breast tumors using the Mammotome system has recently been regarded as a feasible, safe method without serious complications. The Mammotome system has an expanding role in the surgical treatment of benign breast disease, and may further extend its role to the excision of small malignant lesions. The aim of this study was to evaluate the efficacy and the safety of the Mammotome biopsy device in the treatment of benign phyllodes tumor, and to identify whether surgical excision is necessary for benign phyllodes tumors diagnosed and excised by Mammotome. METHODS: From Jan. 2003 to Feb. 2007, a total of 2,751 US- guided mammotome excisions were performed in 2,226 patients at Kangnam Cha hospital. Out of 2,751 lesions, 30 lesions were proved to be benign phyllodes tumors. All lesions were removed using an 8-gauge probe without any residual lesions. Ultrasonographic follow-up was performed at a 3- to 6-month interval to assess recurrence. The mean follow-up period was 33.2 months (max, 51 months; min, 2 months). RESULTS: The mean patient age was 31.4 years. The average size of the lesion was 1.5 cm (SD+0.43 cm). The majority of lesions, 73.3% (22 cases), were palpable, and 26.7% (8 cases) were nonpalpable. Twenty-two lesions (73.8%) were classified as BIRADS category 3, eight lesions (26.7%) were classified as category 4A by ultrasound. During the follow-up period, local recurrence developed in only one patient, making the local recurrence rate 3.3%. No distant metastasis was observed. CONCLUSION: Benign phyllodes tumors found on mammotome excision may not require surgical reexcision if surgeons are sure that the targeted lesions were excised completely and the follow-up ultrasound does not show any residual lesions, especially in small phyllodes tumors, the greatest dimension of which is less than 3 cm.

A study in fetuses with prenatally diagnosed single umbilical artery by ultrasonund / 대한산부인과학회지

OBJECTIVE: To evaluate the incidence, combined anomaly, and prognosis of prenatally diagnosed Single Umbilical Artery (SUA) by ultrasound. METHODS: From January 2001 to December 2005, a single umbilical artery (SUA) was observed in 41 cases out of 22,868 deliveries. Among 41 cases, 39 cases were examined by targeted imaging to rule out fetal anomalies in the mid trimester (intrauterine pregnancy 16-27 weeks). The remaining two cases were detected in the third trimester, which were transferred from a local clinic, and were examined by routine sonogram. Pregnancy and perinatal outcome data were retrieved by review of the medical records. RESULTS: The incidence of SUA in our population was 0.18%. Of 41 fetuses with SUA, 8 cases presented congenital malformations (19.5%) such as acrania (n=1), Tetralogy of Fallot (n=1), renal anomalies (unilateral renal agenesis n=2, pyelectasis n=1), esophageal atresia (EA) with tracheoesophageal fistula (TEF)(n=1), omphalocele with choroid plexus cyst (CPC)(n=1), and congenital diaphragmatic hernia with hypoplastic left heart syndrome (n=1). Of 33 fetuses with isolated SUA, 3 (9.1%) demonstrated growth restriction. Karyotype analysis was performed in three cases. Two were normal and omphalocele with CPC was Trisomy 18. CONCLUSION: During the prenatal period, the fetus with SUA by ultrasound examination must be carefully monitored with targeted prenatal ultrasound because of its frequent association with fetal congenital anomalies (19.5%). Isolated SUA without associated anomaly dose not affect the outcome of the pregnancy.

Apocrine Carcinoma of the Breast: A Case Report

Apocrine carcinoma is a rare breast cancer and its frequency is about 0.4% of all breast cancers. Little is known about its clinical behavior and prognosis. To our knowledge, few studies have reported the radiologic appearances of apocrine carcinoma in the breast and there has been no such report from Korea. We describe the sonographic findings of a case of apocrine carcinoma in the breast. The sonographic findings are microlobulated heterogeneous hypoechoic lesion that has a central markedly hypoechoic portion and a peripheral mixture of iso and hypoechgenecity.

The Analysis of Tumor Aggressiveness accord- ing to Tumor Size in Occult Papillary Thyroid Carcinoma

PURPOSE: Occult papillary thyroid carcinomas (OPC) are defined as tumors measuring 0.5 cm. A near-total or total thyroidectomy with a central lymph node dissection is the preferred treatment. The early detection and treatment of OPC might be warranted through the routine use of thyroid USG and USG-guided FNA.

Usefulness of Multidetector-row CT in the Evaluation of Reperfused Myocardial Infarction in a Rabbit Model

OBJECTIVE: To evaluate the usefulness of multidetector-row computed tomography (CT) in the evaluation of reperfused myocardial infarction. MATERIALS AND METHODS: Eleven rabbits were subjected to 90-min occlusion of the left anterior descending coronary artery followed by reperfusion. Multidetector-row CT was performed 31 hours+/-21 after the procedure and preand post-contrast multiphase helical CT images were obtained up to 10 min after contrast injection. The animals were sacrificed after 30 days and histochemical staining of the resected specimens was perfomed with 2'3'5-triphenyl tetrazolium chloride (TTC). RESULTS: In all 11 cases, the areas of myocardial infarction demonstrated with TTC-staining were identified on the CT images and the lesions showed hypoenhancement on the early phases up to 62 sec and hyperenhancement on the delayed phases of 5 min and 10 min compared with normal myocardial enhancement. The percentage area of the lesion with respect to the left ventricle wall on CT was significantly correlated with that of the TTC-staining results (p < 0.001 for both early and delayed phase CT) according to the generalized linear model analysis. The areas showing hypoenhancement on early CT were significantly smaller than those with hyperenhancement on delayed CT (p < 0.0001). CONCLUSION: Multidetector-row CT may be useful in the detection and sizing of reperfused myocardial infarction.

A Case of 46 , XX Male / 대한산부인과학회잡지

46, XX male is a rare sex cluomasomal constitution characterized by the development of bilateral testis in persons who lack a Y chomosome. The majority of affected persons have normal external genitalia and usually seek medical advice due to infertility, hypogonadism and/or gynecomastia in adulthood. Although Y chromosomsl sequences can be detected in the majority of male subjects with 46, XX karyotype, several studies have shown thst approximately 10 % of patients lack Y chromosomal material including the SRY ( sex-determining region of Y-chromosome) gene. Several hypothesis have been proposed to explain the etiology of this constitution. 1. Translocation of the testis-determining factor (TDF) fiom the Y to the X chromosome or autosome. 2. Acquisition of Y chromosome function by a mutant autosomal or X-linked gene. 3. Undetected mosaicism with Y-bearing cell line 4. Loss of Y chmmosome hom the XXY Klinefelter zygote. We experienced a case of 46, XX male who was 30 years old. We report a case with review of the literature.

The Prediction of Depth of Trophoblastic Invasion in Tubal Pregnancy / 대한산부인과학회잡지

OBJECTIVES: To evaluate the relation between diagnostic clinical parameters and the depth of trophoblastic invasion in tubal pregnancy and decide the most predictable parameter. Methods: Total 50 patients who were confirmed as tubal pregnancy pathologically, from Jan. to Dec. 1997, were included in this study. Menstrual missed periods was calculated by clinical history, volume of gestational mass was calculated as sphere, beta-hCG was titered with preoperative blood sample. All surgical specimens were examined pathologically and divided into two groups such as intraluminal and extraluminal, defined as intact tubal musculature and trophoblastic invasion beyond musculature, n=22 and n=28, respectively. Statistical analysis was performed among three parameters and between each parameter and the depth of trophoblastic invasion. Statistical analysis included were Student's t-test, Chi square, linear regression, and linear correlation analysis using SPSS statistical package and statistical significance was determined as p<0.05. RESULTS: There was a correlation between volume of gestational mass and beta-hCG(p<0.05), but not between beta-hCG and missed period or volume of gestational mass and missed period. beta-hCG level was 1843.7+/-1524.7 mIU/ml(Mean+/-SD) in intraluminal and 12144.3+/-10561.6 mIU/ml(Mean+/-SD) in extraluminal. There was a predictive correlation between beta-hCG and the depth of trophoblastic invasion(p<0.05), and cut off level 3,500 mIU/ml showed the highest sensitivity, specificity, positive predictive value, negative predictive value, 0.79, 0.86, 0.88, 0.76, respectively. Two parameters(volume of gestational mass and missed period) had no ability to predict whether intraluminal or extraluminal. CONCLUSION: We suggest that successful medical treatment of tubal pregnancy depend on lesional intactness of vasculature for drug delivery. In patient selection for medical treatment, it should be important to predict intraluminal type because of intact vasculature. Of clinical parameters, beta-hCG is single most predictive parameter, cut off level of 3,500 mIU/ml was the most reasonable level in this study.