Seminars in cutaneous medicine and surgery
-
Semin Cutan Med Surg · Dec 2012
ReviewThe role of molecular testing in the diagnosis of cutaneous soft tissue tumors.
A number of soft tissue tumors are characterized by recurring genetic abnormalities. The identification of these abnormalities has advanced our understanding of the biology of these tumors and has led to the development of molecular tests that are helpful diagnostically. This review will focus on the application of molecular diagnostic testing in select mesenchymal tumors of the dermis and subcutis.
-
Semin Cutan Med Surg · Dec 2012
Molecular platforms utilized to detect BRAF V600E mutation in melanoma.
Metastatic melanoma (MM) is a deadly skin disease refractory to standard chemotherapy. Despite numerous clinical and pathological parameters derived to guide patient management, clinical outcomes in melanoma patients remain difficult to predict. There is a critical need to delineate the important biomarkers typical of this disease. ⋯ The cobas Mutation Test has been designed specifically to detect BRAF V600E mutations, and the analytic performance of this assay has demonstrated >99% sensitivity in the detection of BRAF V600E mutation when compared with the Sanger sequencing method and confirmed with the next-generation sequencing 454-pyrosequencing technology. The lower limit of detection of the percentage of mutant alleles in a tissue sample for the cobas test is less than 4%-5%. Some cross-reactivity with other variants of mutant BRAF was seen with the cobas V600 platform; however, this clinical test offers highly sensitive reproducible BRAF V600E mutation analysis in formalin-fixed paraffin-embedded tumor samples.