Homo sapiens Raw sequence reads from patient with clinical signs of hypoglycemia

Of all pancreatic neoplasms, sporadic neuroendocrine tumors represent about 2% in which most common functioning neuroendocrine pancreatic tumors is insulinoma. Sporadic insulinoma in combination with microadenomatosis (multiple microadenomas) is a very rare event and is a good model for analyzing the development of neuroendocrine tumors. Microadenomas are considered to be precursors of neuroendocrine tumors. Despite the high interest and the increasing number of studies dedicated to pancreatic neuroendocrine tumors at the moment, molecular genetics of these neoplasms remains poorly investigated.DNA from four FFPE tissues were extracted and sequenced in a panel with 409 cancer-related genes. Results of sequencing were analyzed by bioinformatic algorithms for detecting point mutations and copy number variations. qPCR was used to confirm copy number variations at ATRX, FOXL2, IRS2 and CEBPA genes. Tissue samples were obtained from male in his 60s with clinical signs of hypoglycemia. Patient was admitted to the surgical department of Sechenov University. A distal spleen-preserving pancreatectomy was performed. The microscopic examination showed well differentiated neuroendocrine tumor with 2 mitoses and no necrosis in 10 HPF. There are multiple large microadenomas in the surrounding pancreatic tissue . The cells of microadenomas express insulin and are negative for glucagon and somatostatin (epi-2019-CCP-net71638_2pcbl-t, epi-2019-CCP-net71642_3pcbl-t, epi-2019-CCP-net71642_4pcbl-t). Tumor cells in insulinoma (epi-2019-CCP-net71642_1pcbl-t) are positive for synaptophysin and chromogranin A, as well for insulin. There is no expression of glucagon, somatostatin and pancreatic polypeptide. Ki67 is less than 1.5%, Grade 1.