Purpose: The genetic attribution for pancreatic ductal adenocarcinoma (PDAC) has been reported as 5%-10%. However, the incidence of germline pathogenic variants (PVs) in Korean PDAC patients has not been thoroughly investigated. Therefore, we studied to identify the risk factors and prevalence of PV for future treatment strategies in PDAC. Materials and Methods: Total of 300 (155 male) patients with a median age of 65 years (range, 33 to 90 years) were enrolled in National Cancer Center in Korea. Cancer predisposition genes, clinicopathologic characteristics, and family history of cancer were analyzed. Results: PVs were detected in 20 patients (6.7%, median age 65) in ATM (n=7, 31.8%), BRCA1 (n=3, 13.6%), BRCA2 (n=3), and RAD51D (n=3). Each one patient showed TP53, PALB2, PMS2, RAD50, MSH3, and SPINK1 PV. Among them, two likely PVs were in ATM and RAD51D, respectively. Family history of various types of cancer including pancreatic cancer (n=4) were found in 12 patients. Three patients with ATM PVs and a patient with three germline PVs (BRCA2, MSH3, and RAD51D) had first-degree relatives with pancreatic cancer. Familial pancreatic cancer history and PVs detection had a significant association (4/20, 20% vs. 16/264, 5.7%; p=0.035). Conclusion Our study demonstrated that germline PVs in ATM, BRCA1, BRCA2, and RAD51D are most frequent in Korean PDAC patients and it is comparable to those of different ethnic groups. Although this study did not show guidelines for germline predisposition gene testing in patients with PDAC in Korea, it would be emphasized the need for germline testing for all PDAC patients.

Arteriovenous malformations are degenerative lesions of the gastrointestinal tract that occur with a frequency that increases with increasing age. Although the bleeding caused by arteriovenous malformations is typically chronic, slow, intermittent and recurrent, 15% of patients with arteriovenous malformations present with massive bleeding. Any part of the gastrointestinal tract can be involved and arteriovenous malformations usually appear on endoscopy as either flat or elevated discrete bright red mucosal lesions. There are a few cases of colonic arteriovenous venous malformations with a polypoid appearance with some of their endoscopic treatments resulting in profuse bleeding from the remnant stalk. We encountered a case of a polypoid arteriovenous malformation in the colon of a 69-year-old patient with active gastrointestinal bleeding. The patient was treated successfully by an endoscopic polypectomy with a detachable snare.
Aged ; Arteriovenous Malformations* ; Colon ; Endoscopy ; Gastrointestinal Tract ; Hemorrhage ; Humans ; SNARE Proteins*

A hemangioma is a benign tumor arising in the vessels, but an intrascrotal hemangioma is rare, and a hemangioma of the epididymis is extremely rare. Ultrasound and MRI (magnetic resonance imaging) are mainly used for the diagnosis of an intrascrotal hemangioma, with surgical excision being the appropriate treatment. We report on the case of a 24 year- old-man with a mixed hemangioma of the epididymis.
Diagnosis ; Epididymis* ; Hemangioma* ; Magnetic Resonance Imaging ; Male ; Ultrasonography

PURPOSE: To investigate whether up-regulation of the caveolin-1 gene is associated with the resistance to the chemotherapeutic agents in human renal cell carcinomas (HRCC). MATERIALS AND METHODS: Two HRCC cell lines, SN12C and SN12CPM7, with low and high metastatic potentials, respectively, were cultured. Between these two cell lines, the cytotoxicities to doxorubicin, and the expressions of the caveolin-1 gene, were compared using the MTT assay and Northern blot analysis, respectively. A full length of caveolin-1 cDNA was obtained, and inserted into the SN12C to make stable cells expressing the caveolin-1 gene (SN12C/Cav). In these cells, the status of the caveolin-1 expression was evaluated, and the cytotoxicity to doxorubicin or interferon compared to other cell lines. RESULTS: The SN12CPM7 cells were less sensitive to the doxorubicin than the SN12C cells in the cytotoxicity study. The Northern blot analysis revealed that the expression of caveolin-1 was higher in the SN12CPM7 than in the SN12C cells. The expression levels of the caveolin-1 gene in the SN12C/Cav and SN12CPM7 were very similar. The MTT assay, using transfected cell lines, revealed that the SN12C/Cav was more resistant to both the doxorubicin and interferon than the SN12C. CONCLUSIONS: In HRCCs, up-regulation of the caveolin-1 gene may be associated with the change in the biological response to anti-cancer drugs. The induction of the caveolin-1 gene expression may provide the cancer cells with some protection against the action of cytotoxic drugs.
Blotting, Northern ; Carcinoma, Renal Cell ; Caveolin 1* ; Caveolins ; Cell Line ; DNA, Complementary ; Doxorubicin ; Drug Resistance ; Drug Resistance, Multiple* ; Gene Expression ; Humans* ; Interferons ; Up-Regulation*

PURPOSE: To determine whether the up-regulation of the differentiation related gene (Drg-1) enhances the progression of prostate cancer into the androgen independent phenotype, via escaping androgen signal transduction. MATERIALS AND METHODS: A full length of Drg-1 cDNA was obtained using the Drg-1 primer, which was inserted into LNCaP cells. The sensitivities of dihydrotestosterone and bicalutamide were then examined. In addition, the level of the Drg-1 gene expression was examined in derivatives of the LNCaP cell lines obtained from the orthotopic animal model. RESULTS: The Drg-1 transfected LNCaP cells, which highly expressed the Drg-1, were established (LNCaP/D2). The LNCaP/D2 slowly grew in a culture medium, supplemented with 10% charcoal stripped fetal bovine serum, whereas the control cells did not. When the sensitivities of DHT and bicalutamide were examined, the PC-3 and LNCaP/D2 cells were not sensitive to either. The metastatic androgen independent prostate cancer cells (LNCaP-AI-Lung), which were obtained from the orthotopic animal model, showed higher levels of Drg-1 expression than the parental cells. CONCLUSIONS: Androgen dependent prostate cancer cells, expressing high levels of the Drg-1 gene, behave like androgen independent prostate cancer cells. This finding suggest that the Drg-1 gene may play an important role in the initiation of an androgen-independent state.
Cell Line ; Charcoal ; Dihydrotestosterone ; DNA, Complementary ; Gene Expression ; Humans ; Models, Animal ; Parents ; Phenotype ; Prostate* ; Prostatic Neoplasms* ; Signal Transduction ; United Nations ; Up-Regulation*

A male urethral diverticulum is a relatively uncommon abnormality. It usually occurs at the penoscrotal junction and most of these lesions develop as secondary disorder after a urethral trauma, obstruction or infection. Here we report a case of a male urethral diverticulum combined with a stone and a urethrocutaneous fistula.
Diverticulum* ; Fistula* ; Humans ; Male*

A male urethral diverticulum is a relatively uncommon abnormality. It usually occurs at the penoscrotal junction and most of these lesions develop as secondary disorder after a urethral trauma, obstruction or infection. Here we report a case of a male urethral diverticulum combined with a stone and a urethrocutaneous fistula.
Diverticulum* ; Fistula* ; Humans ; Male*

No abstract available.
Teratoma*

BACKGROUND: In patients with stage C colon cancer, surgery followed by adjuvant chemotherapy with 5-fluorouracil (5-FU)/leucovorin (LV) is considered to be the standard treatment. However, the objects of adjuvant therapy and the duration of treatment are still matters of controversy. We investigated the effect of dose related factor(delivered total dose of 5-FU per body square meter, actual dose intensity and relative dose intensity) of the adjuvant 5-FU/leucovorin regimen on survival in coloncancer. METHODS: Of the colon cancer patients with Duke's B2 and C stage diseases treated with curative resection from December, 1990 to December, 1996, 139 patients treated with 5-FU/LV as an adjuvant chemotherapy were evaluated. The delivered total dose of 5-FU per body square meter, actual dose intensity and relative dose intensity were obtained. The patients were divided into two groups according to the median value of each factor and the survival rates were compared. RESULTS: The total dose of 5-FU administrated per body square meter had a significant effect on the 5-year disease free and overall survival in stage B2 and C colon cancer patients(B2; p=0.025, p=0.045, respectively, C; p=0.011, p=0.0002, respectively). But survival was not affected by the dose intensity. Multivariate analysis demonstrated that only the total dose of 5-FU administrated per body surface area affected the 5-year disease free and overall survival(p=0.0016, p=0.0007, respectively). CONCLUSION: It can be concluded that the total dose of 5-FU administered is more important than the DI in adjuvant chemotherapy of colon cancer and the total dose of 5-FU had a significant effect on the survival rate in colon cancer patients. To confirm the total dose effect of 5-FU on survival in this study, multi-institutional, prospective randomized studies should be carried out.
Body Surface Area ; Chemotherapy, Adjuvant* ; Colon* ; Colonic Neoplasms* ; Dosage Forms ; Drug Therapy ; Fluorouracil ; Humans ; Leucovorin* ; Multivariate Analysis ; Survival Rate

PURPOSE: It is well known that smoking is one of the most important etiologic factor in bladder cancer and mutations of p53 tumor suppressor gene are the important step in carcinogenesis of urinary bladder. In this study, we investigated the difference in pattern and rate of p53 gene mutation between smoker and non-smoker MATERIALS AND METHODS: Of 26 bladder transitional cell carcinoma, 16 cases were smoker and 10 cases were non-smoker. We evaluated mutation of the p53 gene concentrated on axon 5 through 8, using polymerase chain reaction- single strand conformation polymorphism(PCR-SSCP) with radioisotope. RESULTS: 3 cases(18.7%) of 16 smoker were found to have p53 gene mutation, but none of 10 non-smoker was found. 2 of 3 cases of p53 gene mutation were found in exon 5 and 1 in exon 7. The pattern of p53 gene mutation was different in 3 cases. CONCLUSIONS: Although the more cases will be needed in this study, we think that a mutation of p53 in bladder cancer may be associated with cigarette smoking.
Axons ; Carcinogenesis ; Carcinoma, Transitional Cell ; Exons ; Genes, p53* ; Genes, Tumor Suppressor ; Humans ; Smoke* ; Smoking* ; Urinary Bladder Neoplasms* ; Urinary Bladder*