Successful pregnancy after complete resection of leiomyomatosis peritonealis disseminate without recurrence:A case report with next generation sequencing analysis and literature review

Abstract Background: Peritoneal leiomyomatosis disseminate (LPD) is a rare disease characterized by widespread dissemination of leiomyomas nodules throughout the peritoneal and omental surfaces. Reports of pregnancy with LPD are even rarer. Therefore, there is no clear consensus on the treatment of LPD on pregnancy, and the pathogenesis is still unclear. Case presentation：We reported a case of LPD patient who developed during pregnancy. The patient underwent cesarean section at 32 weeks of gestation while removing all visible tumors, and no LPD lesions were seen in the subsequent cesarean section at full-term. NGS of LPD lesions detected 4 mutations with focal high-level amplifications of CDK4 (Cyclin-dependent kinases 4), NBN (Nibrin), DAXX (Death domain associated protein) and MYC (Myelocytomatosis oncogene). Immunohistochemistry staining analysis among benign leiomyoma, LPD and leiomyosarcoma verified that LPD was an unusual intermediate between benign and malignant uterine smooth muscle tumors. Besides, LPD is a hormonal-dependent leiomyoma. After detailed literature search, we summarized the detailed clinical features and follow-up information of patients with LPD during pregnancy.Conclusions: This is the first reported LPD case of successful term pregnancy without recurrence, following resection of all visible lesions in prior pregnancy. LPD is an unusual intermediate between benign and malignant uterine smooth muscle tumors.