Background: Von Hippel–Lindau (VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome. Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction. Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common (40.9%, 63/154), followed by large/complete deletions (32.5%, 50/154) and nonsense mutations (11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients (40.9% vs. 52.0%; P = 0.012 and 8.4% vs.13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients (32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher. Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.

INTRODUCTIONStudies have suggested that women who present with non-ST-segment elevation myocardial infarction (NSTEMI) may differ in their clinical response to early invasive strategy compared to male patients. We examined the impact of gender difference in NSTEMI patients on outcomes following invasive versus conservative treatment.

MATERIALS AND METHODSPatients enrolled in our national myocardial infarction (MI) registry between January 2000 and September 2005 with diagnosis of NSTEMI were retrospectively analysed. The study endpoint was the occurrence of major adverse cardiac events (MACE) in the patients at 1 year.

RESULTSA total of 1353 patients (62.2% male) with NSTEMI were studied. The mean age of men was 62 +/- 14 versus 72 +/- 12 years in women in the cohort (P <0.001). The prevalence of hypertension and diabetes mellitus were significantly higher in women. Men were more likely to undergo revascularisation than women (OR, 2.97; 95% CI, 2.18-3.89, P <0.001). Among those who were revascularised, there was no gender difference in survival or recurrent MI rates during hospitalisation and at 1 year. Compared to medical therapy, percutaneous coronary intervention (PCI) was associated with a significant reduction in MACE in both women (OR, 0.44; 95% CI, 0.20-0.95) and men (OR, 0.40; 95% CI, 4.79-12.75). The most important predictor of MACE for females was diabetes mellitus (HR, 1.98; 95% CI, 1.17-3.33).

CONCLUSIONSThere is a gender-based difference in the rate of revascularisation among patients with NSTEMI. Women benefit from an invasive approach as much as men, despite their advanced age, with similar rates of mortality and recurrent MI at 1-year follow-up.

Adrenergic beta-Antagonists ; therapeutic use ; Aged ; Aged, 80 and over ; Angioplasty, Balloon, Coronary ; Angiotensin-Converting Enzyme Inhibitors ; therapeutic use ; Electrocardiography ; Female ; Follow-Up Studies ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; therapeutic use ; Male ; Middle Aged ; Myocardial Infarction ; drug therapy ; surgery ; Platelet Aggregation Inhibitors ; therapeutic use ; Practice Patterns, Physicians' ; Recurrence ; Sex Factors ; Survival Analysis

Unusual sites of metastases are recognized in patients with renal cell carcinoma (RCC). However, the prognostic implications of these sites are not well understood. We used the Memorial Sloan-Kettering Cancer Center (MSKCC) risk classification for metastatic RCC to evaluate 912 consecutive patients with RCC managed at the Singapore General Hospital between 1990 and 2009. Among these patients, 301 had metastases either at diagnosis or during the course of illness. Nasal metastases, all arising from clear cell RCC, were identified histologically in 4 patients (1.3% of those with metastasis). All 4 patients were classified as MSKCC poor prognosis by current risk criteria. Nasal metastases were significantly associated with lung and bone metastases. The frequency of nasal metastases in patients with metastatic RCC is about 1%, occurring predominantly in patients with clear cell RCC. Nasal metastases are associated with poor prognosis as estimated by the MSKCC risk classification, with attendant implications for selection of targeted therapy, and are usually associated with multi-organ dissemination, including concurrent lung and bone involvement.
Antineoplastic Agents ; therapeutic use ; Bone Neoplasms ; secondary ; Carcinoma, Renal Cell ; diagnostic imaging ; secondary ; therapy ; Female ; Humans ; Indoles ; therapeutic use ; Kidney Neoplasms ; diagnostic imaging ; pathology ; therapy ; Lung Neoplasms ; secondary ; Male ; Middle Aged ; Nephrectomy ; Nose Neoplasms ; pathology ; secondary ; therapy ; Pyrroles ; therapeutic use ; Skull Neoplasms ; diagnostic imaging ; secondary ; Tomography, X-Ray Computed