Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum

Abstract

The present study reports the case of a 71-year-old female patient diagnosed with endometrial adenocarcinoma, which was confirmed by histopathology. In the course of performing an elective hysterectomy with adnexa removal, a solid tumor located in Meckel's diverticulum (MD) was identified and excised. Due to the unique nature of the lesion, the tumor tissue underwent broad mapping of any genomic alterations once the histopathological examination was completed. The genetic testing was conducted using a high-resolution microarray and resulted in the identification of 45 genomic abnormalities, including 4 chromosomal aneuploidies. Within those regions, alterations of 87 known cancer genes were assigned. The involvement of v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog gene alteration was noted to be a key player for triggering gastrointestinal stromal tumor transformation for this unusual case. A total of 12 genes, showing mutual interaction in different cancer types or involved in diverse cellular processes, were identified. These reported data may shed light on the carcinogenesis of a rare MD tumor.