RESUMO
Gene fusions caused by cytogenetic aberrations play important roles in the initiation and progression of cancers. The recurrent MTAP-ANRIL fusion gene was reported to have a frequency of greater than 7% in melanoma in our previous study. However, its functions remain unclear. Truncated MTAP proteins resulting from point mutations in the last three exons of MTAP can physically interact with the wild-type MTAP protein, a tumor suppressor in several human cancers. Similarly, MTAP-ANRIL, which is translated into a truncated MTAP protein, would influence wild-type MTAP to act as an oncogene. Here, we found that MTAP-ANRIL gene fusion downregulated the expression of wild-type MTAP and promoted epithelial-mesenchymal transition-like process through the activation of JNK and p38 MAPKs in vitro and in vivo. Our results suggest that MTAP-ANRIL is a potential molecular prognostic biomarker and therapeutic target for melanoma.
Assuntos
Transição Epitelial-Mesenquimal , Melanoma , Humanos , Transição Epitelial-Mesenquimal/genética , Melanoma/genética , Melanoma/patologia , Transdução de Sinais , Éxons , Fusão GênicaRESUMO
Duodenal adenocarcinoma, especially duodenal bulb with neuroendocrine features (NEF), is extremely rare. Here, we report one such case of duodenal bulb adenocarcinoma with neuroendocrine features. A 63-year-old Han Chinese woman was admitted to our department with the diagnosis of a duodenal bulb polyp and underwent an endoscopic mucosal resection. The pathological findings confirmed it as duodenal bulb adenocarcinoma with NEF. The patient remains curative after one and half a years of follow-up. Duodenal adenocarcinoma with NEF might be a low malignant neuroendocrine tumor rather than a conventional adenocarcinoma. Endoscopic treatment, including endoscopic mucosal resection, might be an ideal option for the adenocarcinomas with NEF.