Publications by authors named "W J Merchant"

Objective: The Very Early Diagnosis of Systemic Sclerosis (VEDOSS) EUSTAR study showed that, despite not showing any clinical sign of disease, patients with Raynaud's and antinuclear antibodies and/or capillaroscopy abnormalities often progress to systemic sclerosis (SSc) within 5 years. We aimed to determine whether VEDOSS biosamples show biological SSc activity pre-clinically.

Methods: Skin biopsies were histologically analysed.

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Context.—: The current melanoma staging system does not account for 26% of the variance seen in melanoma-specific survival, therefore our ability to predict patient outcome is not fully elucidated. Morphology may be of greater significance than in other solid tumors, with Breslow thickness remaining the strongest prognostic indicator despite being subject to high levels of interobserver variation.

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Article Synopsis
  • Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
  • This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
  • Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.
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