Characteristics of BRCA1/2 Mutation-Positive Breast Cancers in Korea: A Comparison Study Based on Multicenter Data and the Korean Breast Cancer Registry / 한국유방암학회지

PURPOSE: Mutations in BRCA genes are the main cause of hereditary breast cancer in Korea. The aim of this study was to investigate the characteristics of breast cancers involving BRCA1 (BRCA1 group) and BRCA2 (BRCA2 group) mutations. METHODS: We retrospectively reviewed the medical records of patients with BRCA1 (BRCA1 group) or BRCA2 (BRCA2 group) mutation positive breast cancer from multiple centers and compared the data to that of the Korean Breast Cancer Society registry (registry group). RESULTS: The patients of the BRCA1 group were diagnosed at a younger age (median age, 37 years) and had tumors of higher histological (61.3% with histological grade 3) and nuclear (37.5% with nuclear grade 3) grade than those of the registry group. In addition, the frequency of ductal carcinoma in situ in the BRCA1 group was lower (3.7%) than in the registry group, and the BRCA1 group were more likely to be triple-negative breast cancer (61.3%). Patients in the BRCA2 group were also younger at diagnosis (mean age, 41 years) and were more likely to have involvement of the axillary node than the registry group (45.5% vs. 33.5%, p=0.002). The BRCA1 and BRCA2 groups did not show a correlation between tumor size and axillary node involvement. CONCLUSION: We report the characteristics of BRCA mutation positive breast cancer patients in the Korean population through multicenter data and nation-wide breast cancer registry study. However, BRCA-mutated breast cancers appear highly complex, and further research on their molecular basis is needed in Korea.

Long-Term Survival of a Patient with Pulmonary Artery Intimal Sarcoma after Sequential Metastasectomies of the Thyroid and Adrenal Glands

Cancer metastases to the thyroid or adrenal gland are uncommon. Furthermore, cases showing long-term survival after surgical resection of those metastatic tumors are rare. We report a case of pulmonary artery intimal sarcoma with metastases to the thyroid and adrenal glands sequentially that was successfully treated with sequential metastasectomies. A 62-year-old woman presented with a 4-week history of dyspnea on exertion and facial edema in November 1999. Echocardiography and chest computed tomography (CT) revealed an embolism-like mass in the pulmonary trunk. Pulmonary artery endarterectomy with pulmonary valve replacement was performed, and histopathology revealed pulmonary artery intimal sarcoma. A thyroid nodule was found by chest CT in November 2001 (2 years after initial surgery). During follow-up, this lesion showed no change, but we decided to obtain fine needle aspiration cytology (FNAC) in August 2004 (4.7 years after initial surgery). FNAC revealed atypical spindle cells suggestive of metastatic intimal sarcoma. She underwent total thyroidectomy. During follow-up, a right adrenal gland mass was detected by chest CT in March 2006 (6.3 years after initial surgery), and adrenalectomy was done, which also revealed metastatic sarcoma. She has been followed up without any evidence of recurrent disease until May 2012 (12.5 years after initial surgery).

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

BACKGROUND: Follicular neoplasm (FN) or Hurthle cell neoplasm (HN) is a less well understood pitfall when evaluating thyroid nodule with fine-needle aspiration (FNA). This study aimed to determine the rates of malignancy and the predictive factors for malignancy in thyroid nodules with a cytological diagnosis of FN or HN. METHODS: The patients who were cytologically diagnosed as having FN or HN after FNA between 1995 and 2004 at Asan Medical Center were included in this study. We collected the pathology data until 2009 and we analyzed the clinical characteristics associated with malignancy. RESULTS: A total 478 patients were cytologically diagnosed as having FN or HN during the study period and 327 (68%) among them underwent thyroid surgery. Thyroid malignancy was confirmed in 157 (48%) of 327 patients. Malignancy was confirmed in 124 patients with FN (124/253, 49%). They were 48 papillary, 65 follicular, 7 Hurthle cell and 3 medullary carcinomas and 1 anaplastic carcinoma. The malignancy in the cases of HN (33/71, 44.6%) was 9 papillary, 4 follicular and 20 Hurthle cell carcinomas. The risk of malignancy was not associated with male gender, a larger tumor size (> 4 cm) or the diagnosis of HN. However, an age below 20 years (RR 3.6, P = 0.03) and above 60 years (RR 2.3, P = 0.04) was associated with an increased risk of malignancy. CONCLUSION: About half of the patients with FN or HN on FNA cytology were diagnosed as having thyroid cancer after surgery. The malignancy rate for the cytologic diagnosis of HN was similar to that for FN. Thyroid surgery should be recommended for this situation, and especially for patients younger than 20 years or older than 60 years.

Role of Basal Cell and Secretory Cell in Benign Prostatic Hyperplasia and Prostatic Cancer / 대한비뇨기과학회지

The prostatic glandular cells are largely composed of secretory cells and basal cells. Secretory cells produce various enzymatic substance including prostatic specific antigen (PSA), while basal cells have been known to play an important role in the proliferation of the glandular cells. We evaluated the proliferative potential of secretory cells and basal cells in benign prostatic hyperplasia (BPH) and prostate cancer (CAP) by immunohistochemistry. The prostate tissue obtained from 19 patients with BPH and 19 patients with CaP was used in this study. Double staining with PSA and a basal cell marker, cytokeratin (34betaE12) was performed to evaluate the distribution of each cell type in BPH and CaP. Double staining with proliferating cell nuclear antigen (PCNA) and 34betaE12 was carried out to determine the proliferative potential of each cell type. Partial or total loss of basal cell layer was identified in CaP in contrast to intact basal cell layer in BPH. Proportion of basal cells and secretory cells in PCNA positive cells in BPH were 84.6+/-2.0% and 15.4+/-2.0%. In contrast, proportion of basal cells and secretory cells in PCNA positive cells were 1.1+/-1.5% and 98.9+/-1.5% in CaP. PCNA index (PCNA positive cells in 1,000 cells) in CaP was well correlated with Gleason score, but not with pathologic stage. Interestingly, PCNA index in basal cell was significantly higher in stromal type BPH (including fibrous, fibromuscular and muscular type) than that in glandular type BPH (including fibroadenomatous and fibromyoadenomatous type). Taken together, the basal cell play a major role in the proliferation of glandular cells of BPH, while loss of basal cell layer and overproliferation of secretory cells in CaP might lead cancer cells to invade into the stroma. Since higher basal cell PCNA index was noted in glandular type BPH, it is probable that the proliferative potential of basal cell induce secretory cell proliferation.

Inflammatory Breast Cancer: Correlation between Clinical and Radiologic Findings

PURPOSE: To describe, evaluate and compare radiologic and clinical findings in the diagnosis of inflammatory breast carcinoma. MATERIALS AND METHODS: We retrospectively analysed the clinical and radiologic findings of mammography, ultrasonography and computed tomography in 11 women aged 31-75 (mean 46) years with inflammatory breast carcinoma. In three women, follow-up radiologic studies were also assessed. RESULTS: The left breast (7 cases) was more commonly involved than the right (4 cases). A Palpable mass (9 cases) and palpable axillary lymphadenopathy (8 cases) were the most common clinical findings. In nine of ten women, mammography revealed trabecular thickening, skin thickening, and nipple retraction. Mass, axillary lymphadenopathy and diffuse increased density of the breast parenchyma were also frequently found. Sonography showed that skin thickening and axillary lymphadenopathy were present in three women; obliteration of the interface between subcutaneous fat and parenchyma, as well as lymphatic engorgement, were also observed. In one woman, mass, skin thickening, nipple retraction and axillary lymphadenopathy were seen on CT. For the assessment of skin thickening, radiologic findings were better than clinical findings. During follow-up, radiologic and clinical findings showed close correlation. CONCLUSION: In the diagnosis and assessment of inflammatory breast carcinoma, radiologic findings provide valuable information.