A rare case of a metastatic neuroendocrine tumor of the pancreas

Abstract

Aim. To study a rare sporadic case of metastatic gastrinoma associated with mutations in the MEN1 and TSC2 genes in a 25-year-old male.Materials and methods. A retrospective analysis of the history of a 25-year-old patient with sporadic gastrinoma with a highly aggressive clinical course and high metastatic potential was performed. Sequencing of the DNA extracted from the surgical tumor biopsy was performed on the Illumina NextSeq 550 sequencer (Illumina Inc., USA) with the mean coverage of at least 100× using the AmpliSeq target panel for Illumina Comprehensive Cancer Panel for studying exons of 409 genes, mutations in which are associated with oncopathology.Results. The article presents the results of complex diagnosis and treatment of metastatic gastrinoma using modern locoregional therapy and drugs from the group of somatostatin analogues. Using next generation sequencing and Sanger sequencing, sporadic mutations in the MEN1 and TSC2 genes with pronounced clinical significance were identified in the extracted DNA.Conclusion. The identified mutations, being the drivers of the tumor process, apparently determined the atypical development of the presented clinical case – the sporadic Zollinger – Ellison syndrome. Complete morphological and immunohistochemical validation of the neuroendocrine tumor before treatment determined a successful treatment strategy, including the use of somatostatin analogues in adjuvant and neoadjuvant therapies in combination with chemoembolization of hepatic metastases.

Keywords

• нейроэндокринная опухоль
• синдром золлингера – эллисона
• секвенирование нового поколения
• метастазы