We used whole-genome and transcriptome sequencing to identify clinically actionable genomic alterations in young adults with pancreatic ductal adenocarcinoma (PDAC). Molecular characterization of 17 patients with PDAC enrolled in a precision oncology program revealed gene fusions amenable to pharmacologic inhibition by small-molecule tyrosine kinase inhibitors in all patients with wild-type () tumors (4 of 17). These alterations included recurrent rearrangements predicted to drive PDAC development through aberrant ERBB receptor-mediated signaling, and pharmacologic ERBB inhibition resulted in clinical improvement and remission of liver metastases in 2 patients with-rearranged tumors that had proved resistant to standard treatment. Our findings demonstrate that systematic screening of tumors for oncogenic fusion genes will substantially improve the therapeutic prospects for a sizeable fraction of patients with PDAC. Advanced PDAC is a malignancy with few treatment options that lacks molecular mechanism-based therapies. Our study uncovers recurrent gene rearrangements such as fusions as disease-driving events in tumors, thereby providing novel insights into oncogenic signaling and new therapeutic options in this entity. .
Juvenile Dermatomyositis (JDM) is a rare autoimmune disease in childhood. Distinction between muscle inflammation and a residual state can be difficult especially under immunosuppressive therapy and in active disease without correlating muscle enzyme tests or functional muscle scores. Our goal is to demonstrate the benefit of whole-body magnetic resonance imaging (MRI) as a diagnostic modality in the detection and management of JDM. One patient with JDM was monitored using clinical examination, muscle enzyme tests, muscle scores and whole-body MRI. During immunosuppression, the patient presented several times to our department without clear correlation between clinical picture, muscle enzyme tests and muscle scores. Whole-body MRI proved reliable in assessing the true state of the disease, thus providing invaluable information in the management of the inflammatory myopathy. This is of utmost importance for the therapeutic optimization in order to prevent further damage especially in children with active but subclinical disease.
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