No abstract

(1-5) DNA repair enzymes are involved in repairing damaged DNA and at least four pathways operate on specific types of DNA damage: the BER, (6)(7)(8) NER, (9) DSBR (10,11) and MMR (12) pathways. Enzymes involved in BER include XRCC1, those involved in NER include XPC, XPD, ERCC1, those involved in DSBR include BRCA1, BRCA2 and XRCC3, and those involved in MMR include MLH1, MSH2, PMS2 and MSH6. Polymorphisms of DNA repair genes may also alter protein function and the capacity to repair damaged DNA, which may be associated with risk of developing cancer.(1-3) Cancers such as breast cancer, (13)(14)(15) prostate cancer, (16) lung cancer,acute myeloblastic leukemia, (18) colon cancer, (19) stomach cancer (20,21) and SCC of the head and neck (22) are associated with DNA repair gene polymorphisms, and skin cancer is associated with polymorphisms in XRCC1, Various SNP are known to occur in XRCC1 (1,3,5,27,28) and they are thought to cause the occurrence of skin cancer through altering the function of BER. In vivo and in vitro, the XRCC1 gene repairs chromosomes directly by acting on SSB or indirectly through the BER pathway. Cells deficient in the XRCC1 gene are known to be susceptible to a wide variety of genotoxins and subsequently sustain translocations and loss of chromosomes. (10) But they also reported that in patients with XRCC1 Arg399Gln(G > A), lifetime sunburn exposure of more than four times is a risk factor for SCC.Skin cancer is increasing with the lengthening of people's life spans, environmental pollution and destruction of the ozone layer. Of all skin cancers, BCC and SCC occur most frequently. In the present study we test whether the XRCC1 polymorphisms are associated with an increased risk of SCC and BCC of the skin in the Korean population. Materials and methodsStudy population. The study population was composed of 212 patients (mean age ± SD, 68.98 ± 12.6 years; age range, 36-100 years) with skin cancer (114 BCC, 98 SCC) and 207 control subjects (mean age ± SD, 46.42 ± 16.6 years; age range, 21-85 years). Patients with skin cancer were enrolled and recruited from We subcategorized the patients according to the location of cancer lesions and sun exposure time. The frequencies of SCC were: head and neck, 65.9%; body, 8.5%; and limb, 12.7%. Those of BCC were: head and neck, 95.9%; body, 2.7%; and limb, 0.9%. Irrespective of BCC and SCC, compared to the control group patients with outdoor jobs and sun exposure times of more than 4 h/day had a higher proportion of skin cancer (4.6 vs 51.6% and 4.5 vs 46.9%, respectively). All of the cases underwent skin cancer surgery and were histologically confirmed.The controls (n = 207) were healthy individuals without any history of premalignant skin lesions or other malignant disorders who visited Bundang CHA General Hospital. The institutional review board of Bundang CHA General Hospital approved this genetic study in January 1998. All of the patients and controls

Mucinous neoplasms occur rarely in association with cystic teratoma, Sertoli-Leydig cell tumor, granulosa cell tumor or carcinoid tumor. Several cases of an ovarian stromal tumor with minor sex-cord elements have been reported in the literatures. However, there has been no report about an ovarian mucinous neoplasm coexisting with a stromal tumor with sex-cord elements yet. We report a case of an ovarian neoplasm composed of both mucinous cystadenoma and stromal tumor with minor sex-cord elements in a 58-yr-old female. The ovary including the mass measured 5 cm in size. On section, it revealed an unilocular cyst (4.5 cm in diameter) filled with mucinous fluid. There was a round, yellow, solid nodule, 1.5 cm in diameter within the wall. Microscopically, the cyst was lined by a single layer of endocervical mucinous epithelium and the nodule was composed of spindle cells showing an intersecting and whorled arrangement. There were cell nests showing polygonal shape with abundant cytoplasm among the spindle cells. They showed immunoreactivity for inhibin and did not have any connection with the adjacent mucinous epithelium. Therefore, we interpret the mucinous cystadenoma as having arisen de novo.

We describe a 63-year-old woman with an asymptomatic papular eruption on the vulva. Clinically, the lesions showed multiple pin-head-sized whitish papules on the labia major. Histologically, the biopsy specimen showed acantholysis throughout the epidermis with the presence of dyskeratotic cells resembling corps ronds and grains, hyperkeratosis and parakeratosis. These clinical and histological findings were consistent with the diagnosis of papular acantholytic dyskeratosis of the vulva which is a rare disorder, first described in 1984.

The clinicopathological features of 9 cases of Kimura's disease and 5 cases of epithelioid hemangioma(EH) were reviewed. Patients with Kimura's disease presented with multiple or solitary large tumors occurring in the thigh, arms as well as parotid gland. Histologically, the lesions were characterized by numerous lymphoid follicles with proliferation of post-capillary venules lined by plump endothelium and a marked eosinophilic infiltration. Patients with EH were older than those with Kimura's disease and presented papular nodular lesions, less than 1 cm in size. Microscopically, there was proliferation of blood vessels lined by epithelioid endothelium with infiltration by lymphocytes and eosinophils. Although there may occasionally be clinicopathological overlap between Kimura's disease and EH, we consider that these two disorders can be recognized as separate entities.