Endometriosis in para-aortic lymph nodes without any pelvic endometriosis: the first case report, sequencing analysis and literature review

This article introduces a novel case report of a patient exhibiting endometriosis within the para-aortic lymph nodes, concomitant with cystic adenomyosis and notably lacking pelvic endometriosis, alongside the sequencing analysis of her lesions. By synthesizing these findings with prior instances of lymph node endometriosis, the study seeks to offer innovative insights and identify potential targets for the diagnosis and treatment of this condition. A 36-year-old patient presented with escalating dysmenorrhea and a swiftly expanding abdominal mass. Imaging revealed the presence of a para-aortic mass, alongside a sizable cystic solid lesion in the pelvic abdomen featuring numerous internal grid-like patterns. The surgical removal of the uterus and enlarged para-aortic lymph nodes was performed via laparotomy, resulting in the pathological diagnosis of endometriosis in the para-aortic lymph nodes and cystic adenomyosis. Furthermore, sequencing analysis of lesions indicated that the lesions exhibited up-regulation of genes and pathways associated with cell activation, adhesion, inflammation, and immunity. Our study supports Halban’s “Benign Metastasis” theory in endometriosis, noting that lymph node spread often shows imaging changes and raised CA125 levels, necessitating distinction from malignant tumors for proper treatment. We also suggest a link between FOXA2 and SRRM2 genes and this endometriosis form, recommending further research on gene mutations and molecular pathways for better diagnosis and understanding.