Molecular pathology diagnostics in cutaneous mesenchymal tumors

Abstract

Histopathological diagnosis of mesenchymal tumors of the skin is based on a combination of conventional histological and immunohistochemical staining techniques with reliable cytogenetic and molecular genetic methods. Many sarcomas carry translocation-induced gene signatures (fusion genes) or characteristic gene amplifications and deletions which can be detected in formalin-fixed paraffin-embedded routine material. Fluorescence-in-situ hybridization (FISH), reverse transcriptase polymerase chain reaction (RT-PCR), and DNA sequencing (Sanger sequencing) are the preferred cytogenetic and molecular genetic techniques in a diagnostic routine setting and are widely used in conjunction with immunohistochemical phenotyping of tumor tissue. The combined immunohistochemical and molecular genetic algorithm of sarcoma diagnosis is shown in the context of dermatofibrosarcoma protuberans, malignant vascular tumors, epithelioid sarcoma, and clear cell sarcoma.

Molecular diagnostics in dermatology: An online survey to study usage, obstacles and requirements in Germany

“…An online survey to study usage, obstacles and requirements in Germany melanoma [1][2][3][4][5], the group predicted a broader future use in infectious and inflammatory skin diseases [6,7]. Since then, molecular diagnostics in dermato-oncology has significantly expanded in specialized centers [8] and is also increasingly used to diagnose skin mycoses [9], although its application in other areas including inflammatory skin diseases remains mainly experimental.…”