BRCA1-mutated ovarian cancer with skin metastasis: a case report

The major risk factor for ovarian cancer (OC) is mutation of the BRCA1 or BRCA2 DNA mismatch repair genes, which occurs in approximately 10% of OC cases. Most previous studies have demonstrated that BRCA1- and BRCA2-mutated OCs are associated with better prognosis than sporadic OCs. However, information about the patterns and clinical course of the metastatic spread of BRCA-mutated OCs is limited. Herein, we describe a case of OC with a BRCA1 mutation and skin metastases in a 49-year-old patient, which to the best of our knowledge has not been reported previously.

Diagnostic dilemma in cervical endocervicosis

Müllerianosis is an embryonic Müllerian disease, resulting in the formation of the benign diseases adenomyosis, endometriosis, endosalpingiosis, and endocervicosis. Endocervicosis primarily affects the bladder, and rarely the cervix. Cervical endocervicosis, which is also a pseudoneoplastic glandular lesion, could be misinterpreted as a premalignant or even a malignant lesion. Because the treatment of these diseases is very different, early clinical diagnosis is important. Unfortunately, however, this lesion is difficult to diagnose preoperatively using clinical and radiological information, and pathological confirmation is needed. Herein, we report a rare case of cervical endocervicosis that was difficult to diagnosis preoperatively.

A Case of Steroid Resistant Minimal Change Disease Associated with Portal Vein Thrombosis Treated by Combined Immunosuppressive Agents / 고신대학교의과대학학술지

Minimal change disease (MCD) is a common cause of nephrotic syndrome and relatively well responds with steroid treatment. However, nearly half of patients with MCD experience recurrence of nephrotic syndrome. Thromboembolic events including renal vein thrombosis may occur in patients with MCD, but portal vein thrombosis rarely occurs. We experienced a case of frequent relapse/steroid dependent MCD with nephrotic syndrome progressed to steroid resistance associated with portal vein thrombosis. This patient showed complete remission of MCD and resolution of portal vein thrombosis after treatment with corticosteroid, cyclosporine, mycophenolate mofetil, and anticoagulant.

A Rare Cause of Secondary Hypertension in A Young Adult

Reninoma is a rare, renin-secreting, benign renal neoplasm that can cause secondary hypertension. We report a case of a 21-year-old man who suffered from progressively worsening headache for 2 months with a history of hypertension for 7 years. Laboratory studies showed normal potassium level, increased basal plasma renin activity, and normal serum aldosterone level. Abdominal computed tomography and magnetic resonance imaging revealed a small mass in the middle region of the right kidney. Partial nephrectomy was performed; immunohistochemical results demonstrated typical features of reninoma. Postoperatively, blood pressure and potassium level were normal at the 2-month follow-up.

Uterine Lipoleiomyoma in Peri or Postmenopausal Women

Lipoleiomyoma is an uncommon neoplasm of the uterus, composed of smooth muscles intermixed with mature adipocytes. These tumors are considered a benign variant of uterine leiomyomas. Herein, we report six cases of lipoleiomyoma experienced in our institution from January 2005 to March 2015. The patients ranged in age from 45 to 70 years; the etiology may be related to estrogen deficiency occurring after menopausal transition. Except for one lipoleiomyoma in the broad ligament, all others were found in the uterine corpus. The presenting symptoms were nonspecific, and most cases were incidentally diagnosed during surgery for other reasons. We performed preoperative imaging studies, including abdominal and pelvic computed tomography and magnetic resonance imaging. Preoperatively, four patients were diagnosed as having a pelvic mass and one patient was diagnosed as having a right ovarian mature teratoma. In one case, we found a gynecologic malignancy (cervical cancer 1A1). Histologically, there was no gross or microscopic contiguity between the lipoleiomyoma and the malignancy. Lipoleiomyomas seem to have a benign clinical course. In our study, there were no recurrences of or deaths attributed to the lipoleiomyomas during a mean follow-up period of 16.17 +/- 23.80 months.

A Case of Nasal Schwannoma Coexisting with Epidermal Cyst / 대한이비인후과학회지

Schwannomas of the sinonasal tract are very rare benign neoplasm, which can arise from nerve sheath containing Schwann cells. Epidermal cysts are also rarely present in nasal cavity. They are thought to be congenital lesion associated with various craniofacial disorders or arise as a result of implantation of epidermal cells into the deeper dermal element. Several cases of the nasal schwannoma or epidermal cyst have been reported repectively, however nasal schwannoma with epidermal cyst never has been reported yet. We report the first case of nasal schwannoma which is coexists with epidermal cyst at the superior turbinate of the nasal cavity.

Atypical Angiofibroma Originating from the Inferior Turbinate / 대한이비인후과학회지

Angiofibromas arise from soft tissue, but occur rarely in the nasal cavity. Of these, only six cases have risen from inferior turbinate. Six such cases have been reported previously in English literature and only 1 case in Korea. We present an atypical case of an angiofibroma arising from the inferior turbinate in a 57-year-old woman. The mass was removed with endoscopic approach without massive bleeding.

Prevalence of Primary Glomerulonephritis: A Single Center Analysis / 대한신장학회지

PURPOSE: To evaluate the exact prevalence of primary glomerular diseases in Korea. METHODS: We analyzed a retrospective cohort of biopsy proven 1,100 patients with primary glomerular disease in OO Hospital from April 1990 to March 2010. RESULTS: Pathologic diagnosises of 1,100 cases were as follows: IgA nephropathy (IgAN), 557 cases (50.6%), was the most common followed by 200 cases (18.1%) of minor glomerular abnormalities (MGA), 168 cases (15.2%) of focal segmental glomerulosclerosis (FSGS), 93 cases (8.0%) of membranous nephropathy (MN), 31 cases (2.8%) of membranoproliferative glomerulonephritis type I (MPGN), 17 cases (1.5%) of focal glomerulonephritis and 7 cases (0.6%) of diffuse mesangial proliferative glomerulonephritis (DMGN) in order. In idiopathic nephrotic syndrome, the most common pathologic diagnosis was minimal change nephrotic syndrome (MCNS) (40.2%), followed by FSGS (27.5%), MN (24.2%), MPGN (8.1%) and DMGN (0.5%). When the incidence rates between 1990-1992 and 2008-2010 were compared, IgAN and FSGS increased from 34.7, 12.5 to 47.8%, 30.4%, but MCNS (from 33.3 to 6.5 %) decreased significantly. CONCLUSION: IgAN was the most common primary glomerulonephritis. During the past 20 years, the prevalence of IgAN and FSGS were increased, while MCNS and MN were decreased.

Isolated primary schwannoma arising on the colon: report of two cases and review of the literature / 대한외과학회지

Primary schwannoma of the large intestine is an extremely rare neoplasm. Here, we report two cases of colonic schwannoma confirmed pathologically after laparoscopic resection. A 52-year-old female and a 59-year-old female were referred by their general practitioners to our coloproctologic clinic for further evaluation and management of colonic submucosal masses. Colonoscopies performed in our institution revealed round submucosal tumors with a smooth and intact mucosa in the mid-ascending and descending colon, respectively. Computed tomography (CT) scans showed an enhancing soft tissue mass measuring 2 x 2 cm in the right colon and well-defined soft tissue nodule measuring 1.5 x 1.7 cm in the proximal descending colon, respectively. We performed laparoscopic right hemicolectomy and segmental left colectomy under the preoperative impression of gastrointestinal stromal tumors. Two cases were both diagnosed to be benign schwannoma of the colon after immunohistochemical stains (S-100 (+), smooth muscle actin (-), CD117 (-), and CD34 (-)).

Diagnostic Utility of Caveolin-1 and MOC-31 in Distinguishing Chromophobe Renal Cell Carcinoma from Renal Oncocytoma

PURPOSE: Renal tumors consist of heterogeneous groups that frequently show complex and overlapping morphology, thus making it difficult to make a correct diagnosis. One of the most problematic differential diagnoses is to distinguish chromophobe renal cell carcinoma (RCC) from oncocytoma. These should be distinguished by differences in their behavior and clinical outcome. Our study was performed to identify whether caveolin-1 and MOC-31 are useful immunohistochemical markers for differentiating chromophobe RCC from oncocytoma. MATERIALS AND METHODS: We selected 23 chromophobe RCCs, 8 oncocytomas, and 25 clear cell RCCs and performed immunohistochemical staining for caveolin-1 and MOC-31. RESULTS: Caveolin-1 was positive in 20 (87%) of 23 chromophobe RCCs, 0 of 8 oncocytomas, and 21 (84%) of 25 clear cell RCCs. MOC-31 was positive in 22 (96%) of 23 chromophobe RCCs, 2 (25%) of 8 oncocytomas, and 14 (56%) of 25 clear cell RCCs. There was a statistically significant difference in the expression of caveolin-1 and MOC-31 between chromophobe RCC and oncocytoma (p<0.001). In addition, clear cell RCC was also significantly different from oncocytoma in the expression of caveolin-1 (p<0.001) and was significantly different from chromophobe RCC in the expression of MOC-31 (p<0.001). CONCLUSIONS: Caveolin-1 and MOC-31 can be useful markers in the differential diagnosis of chromophobe RCC, oncocytoma, and clear cell RCC.

Laparoscopic splenectomy for sclerosing angiomatoid nodular transformation of the spleen / 대한외과학회지

Primary splenic tumors are rare and mainly found incidentally on radiologic studies. Among them, sclerosing angiomatoid nodular transformation (SANT) of the spleen is a new entity defined as a benign pathologic lesion. Most SANTs have no clinical symptoms and are occasionally accompanied by other splenic diseases such as malignancies. So, the exact diagnosis of the nature of the splenic tumor is mandatory for further treatment. But, preoperative diagnosis is not easy since it is difficult to obtain the tissue from the spleen for pathological study. Recently, laparoscopic splenectomy has become the more standard procedure for the spleen for diagnosis and treatment. Here, we report a rare case of SANT diagnosed following laparoscopic splenectomy.

A Case of Cervical Ewing Sarcoma with Pulmonary Metastasis / 대한이비인후과학회지

Primary Ewing sarcoma (ES) arising in the head and neck region is extremely rare, comprising only 1-4% of all cases of ES. ES is much more common in children and white populations, and has a slightly male predominance. About a quarter of patients have detectable metastases at diagnosis. The lung is the most common site for metastases (50%), followed by bone (25%) and bone marrow (20%). We report a case of 27-year-old woman who presented with cervical Ewing sarcoma with lung metastasis and was treated with surgery and chemotherapy.

A Case of Nephrotic Syndrome with Acute Renal Failure Induced by Tramadol HCl/Acetaminophen / 대한신장학회지

Analgesics are used commonly because of their beneficial effects on various disease processes and pain control, and so the population of patients who are at risk for adverse effects of these drugs is rapidly expanding. A number of renal problems have been associated with the use of these drugs, including electrolyte imbalance, acute renal failure, nephrotic syndrome, and interstitial nephritis. We experienced a 65-year-old female patient who developed general edema and oliguria for 4 days and diagnosed as focal segmental glomerulosclerosis with interstitial nephritis. She had taken tramadol HCl/acetaminophen (Ultracet(R)) for 15 days before admission. Renal biopsy revealed that focal tubular atropy, focal interstitial fibrosis and evidence of diffuse inflammatory cell infiltrations. Tramadol HCl/acetaminophen (Ultracet(R)) was discontinued on admission because of the likelihood the renal disease was drug-related and the patient improved after discontinuation of this drug without remained renal damage. This case suggests that Ultracet(R) must be an agent that causes nephrotic syndrome with acute renal failure. Therefore clinicians should use it with caution in high risk patients.

A Case of Cardiac Amyloidosis With Diuretic-Refractory Pleural Effusions Treated With Bevacizumab

Cardiac amyloidosis describes a clinical disorder caused by infiltration of abnormal insoluble fibrils in the heart, characterized by progressive heart failure and a grave prognosis. Pleural effusion in cardiac amyloidosis may represent a sign of heart failure, but it can also result from pleural infiltration of amyloid, manifested by recurrent large fluid accumulations. Recently, the role of vascular endothelial growth factor (VEGF) has been implicated in the pathogenesis of refractory pleural effusion. We report a case of a 53 year-old female patient with cardiac amyloidosis who presented with recurrent accumulation of large pleural effusions. She was initially treated with high dose loop diuretics, but the pleural effusion persisted, with the daily amount of drainage averaging 1 L/day. Accumulation of pleural fluid did not subside after 3 cycles of melphalan/prednisolone therapy. After the introduction of bevacizumab, an anti-VEGF antibody, the amount of pleural effusion decreased significantly. Efficacy of anti-VEGF therapy for refractory pleural effusions needs to be defined through further studies.

A Case of Small Cell Carcinoma of the Supraglottis / 대한이비인후과학회지

Small cell carcinoma is primarily a lung malignancy occurring rarely in extra pulmonary sites such as the larynx, nasal cavity, paranasal sinuses, and oral cavity. The diagnosis was based on histological investigation expanded with immunohistochemical tests of a fragment of a tissue. The immunohistochemical stain was positive for synaptophysin, CD56 and cytokeratin. So we diagnosed small cell carcinoma. The treatment of small cell carcinoma diagnosis differed from the treatment of other neuroendocrine carcinomas and squamous cell carcinomas of the larynx. We report a case of 72-year-old man with a rare case of small cell carcinoma in the supraglottic region and a brief review of literature.

A Case of Epithelial-Myoepithelial Carcinoma in Left Submandibular Gland / 대한이비인후과학회지

Epithelial myoepithelial carcinoma is a rare tumor with slightly less than one percent of salivary gland neoplasm. Histologically, the carcinomas are characterized by a mixture of trabecular structure with outer myoepithelial cells and inner ductal cells, which are confirmed by electron microscopy and immunohistochemistry. Although this neoplasm exhibits high degree of cellular differentiation histologically, it is classified into low grade carcinoma because of its locally infiltrative, destructive growth pattern, and tendency to metastasize. We report a 45-year-old woman with epithelial-myoepithelial carcinoma arising from a submandubular gland, one of the most unusual locations.

Associations between Oxidized LDL to LDL Ratio, HDL and Vascular Calcification in the Feet of Hemodialysis Patients

Cardiovascular mortality is associated with vascular calcification (VC) in hemodialysis (HD) patients. The present study was designed to find factors related with medial artery calcification on the plain radiography of feet by comparing C-reactive protein (CRP), plasminogen activator inhibitor type 1 (PAI-1) and lipid profile including oxidized low density lipoprotein (ox-LDL) and to elucidate associations among these factors in HD patients. Forty-eight HD patients were recruited for this study. VC in the feet was detected in 18 patients (37.5%) among total patients and 12 patients (85.7%) among diabetic patients. Diabetes, cardiovascular disease (CVD), pulse pressure, ox-LDL/LDL were higher and high density lipoprotein (HDL) was lower in patients with VC than in patients without VC. Negative associations were found between HDL and CRP, PAI-1. PAI-1 had positive association with ox-LDL/LDL. History of CVD was the only determinant of vascular calcification on the plain radiography of feet. Ox-LDL/LDL, HDL, CRP, and PAI-1 were closely related with one another in HD patients. History of CVD is the most important factor associated with the presence of VC and low HDL and relatively high oxidized LDL/LDL ratio may affect VC formation on the plain radiography in the feet of HD patients.

Prevalence and Genotype Distribution of Cervical Human Papillomavirus DNA in Korean Women: A Multicenter Study

Background: DNA prevalence and type distribution of human papillomavirus (HPV) varies geographically. We investigated HPV prevalence and type distribution in Korean women using the MyHPV DNA chip testing. Methods: A total of 2,368 women from five regions of the country underwent Pap smear examination and MyHPV chip testing. Results: Overall HPV positivity was 15.8% and 78.4% in women with normal and abnormal cytology, respectively. High-risk HPV infection was strongly correlated with cytological atypia. In women with abnormal cytology, the five most common HPV types were 16, 58, 18, 52, and 56/53, and HPV16 was significantly the most common type in most geographical regions. After HPV16, HPV58, and 52 were the next most frequently detected types. Women with normal cytology, in contrast, showed heterogeneity in HPV type distribution. High-grade intraepithelial lesions infected with HPV16, 18, 31 or 45 are more likely to progress to carcinoma. Conclusions: The HPV chip test can provide useful data regarding HPV positivity and type. The most common HPV type in Korean women with abnormal cytology is HPV16, with HPV58 and 52 being frequently present. Our data may have important implications for vaccination programs and the development of cervical screening.

Diagnosis of Malignant Pleural Effusion by using Aberrant Methylation of p16 and RARB2 / 결핵및호흡기질환

BACKGROUND: A diagnosis of malignant pleural effusion is clinically important, as the prognosis of lung cancer patients with malignant pleural effusion is poor. The diagnosis will be difficult if a cytological test is negative. This study was performed to investigate whether the detection of hypermethylation of the p16 (CDKN2A) and retinoic acid receptor b2 (RARB2) genes in pleural fluid is useful for a diagnosis of malignant pleural effusion. METHODS: Pleural effusion was collected from 43 patients and was investigated for the aberrant promoter methylation of the RARB2 and CDKN2A genes by use of methylation-specific PCR. Results were compared with findings from a pleural biopsy and from pleural fluid cytology. RESULTS: Of 43 cases, 17 cases of pleural effusion were due to benign diseases, and 26 cases were from lung cancer patients with malignant pleural effusion. Hypermethylation of the RARB2 and CDKN2A genes was not detected in the case of benign diseases, independent of whether or not the patients had ever smoked. In 26 cases of malignant pleural effusion, hypermethylation of RARB2, CDKN2A or either of these genes was detected in 14, 5 and 15 cases, respectively. The sensitivities of a pleural biopsy, pleural fluid cytology, hypermethylation of RARB2, hypermethylation of CDKN2A, or hypermethylation of either of the genes were 73.1%, 53.8%, 53.8%, 19.2%, and 57.7%, respectively; negative predictive values were 70.8%, 58.6%, 58.6%, 44.7%, and 60.7%, respectively. If both genes are considered together, the sensitivity and negative predictive value was lower than that for a pleural biopsy, but higher than that for pleural fluid cytology. The sensitivity of hypermethylation of the RARB2 gene for malignant pleural effusion was lower in small cell lung cancers than in non-small cell lung cancers. CONCLUSION: These results demonstrate that detection of hypermethylation of the RARB2 and CDKN2A genes showed a high specificity, and sensitivity was higher than for pleural fluid cytology. With a better understanding of the pathogenesis of lung cancer according to histological types at the molecular level, and if appropriate genes are selected for hypermethylation testing, more precise results may be obtained.

Adrenal Cavernous Hemangioma / 대한비뇨기과학회지

Cavernous hemangiomas are rarely found in the adrenal gland. Most of the tumors are nonfunctioning, and the patients present with no clinical symptoms. Although rare, the presence of adrenal hemangiomas should be kept in mind in the differential diagnoses of adrenal tumors. We report a case of an adrenal cavernous hemangioma that was removed by laparoscopic adrenalectomy in a 71-year-old female patient. The chief complaint was right flank pain. The patient was pathologically diagnosed as a having a cavernous hemangioma of the adrenal glands.