Researchers Reveal Polyclonality of BRAF Mutations in Acquired Melanocytic Nevi

A new brief communication published online September 14 in the Journal of the National Cancer Institute reveals that the polyclonality of BRAF mutations in melanocytic nevi suggests that mutation of BRAF may not be an initial event in melanocyte transformation.

To test the polyclonality of BRAF mutations, Minoru Takata, M.D., of the department of dermatology at the Shinshu University School of Medicine in Matsumoto, Japan, and colleagues separated approximately 50 single cells from each of 13 melanocytic nevi by using immunomagnetic beads or by laser-capture microdissection. They were then subjected to single-cell polymerase chain reaction and sequencing to determine BRAF mutations. In another experiment, BRAF and a neighboring single-nucleotide polymorphism were simultaneously amplified from nevi of four patients who were heterozygous for the polymorphism.

Although BRAF mutations were always found among nevus cells, cells that contained only wild-type BRAF predominated in nine of 13 nevi. When BRAF was sequenced from both alleles of four patients heterozygous for an adjacent polymorphism, both alleles harbored BRAF mutations.

"[P]olyclonality of BRAF mutations in the lesions of acquired melanocytic nevi suggests an alternative to the view that BRAF mutation is an initial event in melanocytic neoplasia," the authors write.

Source: Eurekalert
RAS

Skin Biopsy

Encyclopedia section of medindia gives general information about skin biopsy.

Skin Disease

Skin diseases also known as dermatologic disorders are many in number and so are their causes. The common skin diseases or skin disorders are usually related to the epidermal layer of skin.

Researchers Identify New Genetic Mutations Responsible For Deadly Skin Cancer

Drawing on the power of DNA sequencing, researchers at the National Institutes of Health have identified a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma.

McArdle Disease

McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It also known as McArdle syndrome or Glycogen storage disease type V (GSD-V).