Germline melanoma susceptibility and prognostic genes: a review of the literature.

In recent years, there have been increasing efforts to identify germline genetic variants that may alter melanoma susceptibility and prognosis. The findings of these studies have indicated the presence of rare, high-penetrance alleles with large effects, such as CDKN2A and CDK4, more common, moderately penetrant genes like MC1R, and very common, low-penetrance polymorphisms with small effects that are related to pigmentation, nevus count, immune responses, DNA repair, metabolism, and the vitamin D receptor. The study of these low-penetrance single nucleotide polymorphisms is relatively new; thus many of them are termed 'candidate melanoma susceptibility or prognostic genes.' This review summarizes the research on germline polymorphisms that have been implicated in melanoma susceptibility and prognosis in order to provide a framework for additional studies to meet the ultimate goal of predicting a patient's risk of, and prognosis in, cutaneous malignant melanoma.

Papillary intralymphatic angioendothelioma of the thigh: A case report and review of the literature.

The term angiosarcoma, encompasses several neoplasms, all of which exhibit a malignant process derived from endothelial cells of the vessels. The most common form of angiosarcoma is highly aggressive, often fatal, and usually affects the head and neck region of elderly white men. Other low-grade forms of angiosarcoma, including papillary intralymphatic angioendothelioma, also known as Dabska tumor, are less invasive, affect a wider age range, and offer a better prognosis. There are several predisposing factors that increase the risk of angiosarcoma and include chronic lymphedema of the extremities, preexisting vascular lesions, and prior radiation, often as therapy for other malignancies. We report an unusual case of a very small, low-grade angiosarcoma on the thigh of an adult female with no known predisposing risk factors.

Dual energy X-ray absorptiometry interpretation and reporting in children and adolescents: the 2007 ISCD Pediatric Official Positions.

The International Society for Clinical Densitometry Official Positions on reporting of densitometry results in children represent an effort to consolidate opinions to assist healthcare providers determine which skeletal sites should be assessed, which adjustments should be made in these assessments, appropriate pediatric reference databases, and elements to include in a dual energy X-ray absorptiometry (DXA) report. Skeletal sites recommended for assessment are the lumbar spine and total body less head, the latter being valuable as it provides information on soft tissue, as well as bone. Interpretation of DXA findings in children with growth or maturational delay requires special consideration; adjustments are required to prevent erroneous interpretation. Normative databases used as a reference should be based on a large sample of healthy children that characterizes the variability in bone measures relative to gender, age, and race/ethnicity, and should be specific for each manufacturer and model of densitometer and software. Pediatric DXA reports should provide relevant demographic and health information, technical details of the scan, Z-scores, and should not include T-scores. The rationale and evidence for development of the Official Positions are provided. Given the sparse data currently available in many of these areas, it is likely that these positions will change over time as new data become available.