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功能性胰腺内分泌肿瘤(pancreatic neuroendocrine tumors,PNETs)主要以胰岛素瘤为表现,其不依靠血糖变化分泌胰岛导致低血糖。但散发性胰岛素瘤中主要的基因改变仍然未知。本组对10组散发的胰岛素瘤进行全外显子组测序发现转录因子YY1中经常有体细胞T372R基因突变。进一步筛选另外103例胰岛素瘤显示这个热点突变基因约占所有筛选肿瘤的30%(34/113)。T372R基因突变改变了
Functional pancreatic neuroendocrine tumors (PNETs) mainly in the performance of insulinoma, which does not rely on changes in blood glucose secretion islets lead to hypoglycemia. However, the major genetic changes in sporadic insulinomas remain unknown. This group of 10 groups of insulinomas distributed exome sequencing revealed that the transcription factor YY1 often have somatic T372R gene mutations. Further screening of an additional 103 insulinomas showed that this hot spot mutation accounted for approximately 30% of all screening tumors (34/113). T372R gene mutation has changed