TERT structural rearrangements in metastatic pheochromocytomas.
作者： Trisha Dwight , Aidan Flynn , Kaushalya Amarasinghe , Diana E Benn , Richard Lupat
DOI: 10.1530/ERC-17-0306
关键词:
摘要: Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the genetic clinicopathological features of metastatic progression remain incompletely understood. As a result, risk metastasis from primary tumor cannot be predicted. Early diagnosis individuals at high developing metastases is clinically important identification new biomarkers that predictive potential value. Activation TERT has been associated with number malignant tumors, including PC/PGL. However, mechanism activation in majority PC/PGL remains unclear. promoter mutations occur rarely PC/PGL, we hypothesized other mechanisms - such as structural variations may underlie these tumors. From 35 PC four PGL, identified three PCs developed elevated expression, each lacked DNA methylation. Using whole genome sequencing, somatic alterations proximal to locus two In both genomic rearrangements led positioning super-enhancers promoter, likely responsible normally tightly repressed expression chromaffin cells.
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