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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)
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)
Superficial/cutaneous small round-cell tumors comprise a heterogeneous group of neoplasms including sarcoma, carcinoma, melanoma, and lymphomas. Among superficial sarcomas, the Ewing's sarcoma family of tumors (ESFT) represents a poorly understood rare variant, having a behavioral difference characterized by a relative favorable prognosis. Several problems(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)
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)
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)
The different features of spitzoid melanoma are not well characterized in the literature, and the lesion often has to be described in comparison with Spitz nevus. We evaluated the histopathological appearance of spitzoid melanoma by reviewing all spitzoid melanomas treated at our hospital and all referrals from 1998 to 2010. The final study sample comprised(More)
The study of hair follicle tumors can be confusing, and hair follicle nevi are no exception. Analogous lesions frequently have divergent appellations. We evaluated the English-language literature on hair follicle nevi and histologic equivalents from 1921 to 1994. In addition, we reviewed four standard dermatopathology textbooks for further examples. We(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)
A high number of nevi is the most significant phenotypic risk factor for melanoma and is in part genetically determined. The number of nevi decreases from middle age onward but this senescence can be delayed in patients with melanoma. We investigated the effects of nevus number count on sentinel node status and melanoma survival in a large cohort of(More)