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Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual(More)
We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with(More)
Recent reports suggested frequent occurrence of cancer associated somatic mutations within regulatory elements of the genome. Based on initial exome sequencing of 21 melanomas, we report frequent somatic mutations in skin cancers in a bidirectional promoter of diphthamide biosynthesis 3 (DPH3) and oxidoreductase NAD-binding domain containing 1 (OXNAD1)(More)
Despite advances in targeted therapies, the treatment of advanced melanoma remains an exercise in disease management, hence a need for biomarkers for identification of at-risk primary melanoma patients. In this study, we aimed to assess the prognostic value of TERT promoter mutations in primary melanomas. Tumors from 300 patients with stage I/II melanoma(More)
BACKGROUND Few reports on literature give detailed figures on prognostic factors of locoregional skin recurrence in cutaneous melanoma. OBJECTIVE The aim of this study was to evaluate clinical and histological prognostic factors following development of locoregional cutaneous metastasis as the only progression site from melanoma. METHODS Data from 1327(More)
IMPORTANCE The influence of regression on the status of the sentinel node (SN) is controversial. In many centers, the presence of regression in thin melanomas supports the performance of an SN biopsy. OBJECTIVE To identify whether regression in primary melanoma has any influence on SN involvement. DESIGN, SETTING, AND PARTICIPANTS Retrospective study of(More)
BACKGROUND Photodynamic therapy (PDT) and imiquimod are the treatments of choice for actinic keratosis (AK). As they have different mechanisms of action, it seems reasonable to assume that applying both treatments sequentially would be efficacious. OBJECTIVES We sought to determine which of these therapeutic modalities provides a better clinical and(More)
BACKGROUND BRAF mutations are frequent in melanoma but their prognostic significance remains unclear. OBJECTIVE We sought to further evaluate the prognostic value of BRAF mutations in localized cutaneous melanoma. METHODS We undertook an observational retrospective study of 147 patients with localized invasive (stages I and II) cutaneous melanomas to(More)
Between 10 % and 35 % of all melanomas show histological regression. That is, there is an area within the melanoma where the tumor retreats or disappears to be progressively replaced by fibrosis with presence of melanophages and variable degrees of inflammation, and neovascularization. Such regression is generally considered an indicator of poor prognosis(More)
BACKGROUND There is debate in the literature regarding the management of basal cell carcinoma following excision with positive surgical margins. While in some cases recurrence is not observed even after many years of follow-up, those in which recurrence does occur are at an increased risk of complications. Factors may exist that help to choose the best(More)