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

World J Surg Oncol. 2020 May 2;18(1):85. doi: 10.1186/s12957-020-01857-0.

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 a 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 a 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 a prior pregnancy. LPD is an unusual intermediate between benign and malignant uterine smooth muscle tumors.

Keywords: LPD; Leiomyosarcoma; NGS; Pregnancy; The authors Hualei Bu and Chengjuan Jin contributed equally to this work..

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Biomarkers, Tumor / genetics*
  • Cell Cycle Proteins / genetics
  • Cesarean Section
  • Co-Repressor Proteins / genetics
  • Cyclin-Dependent Kinase 4 / genetics
  • DNA Mutational Analysis
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Leiomyomatosis / diagnosis
  • Leiomyomatosis / genetics
  • Leiomyomatosis / surgery*
  • Magnetic Resonance Imaging
  • Molecular Chaperones / genetics
  • Mutation
  • Nuclear Proteins / genetics
  • Peritoneal Neoplasms / diagnosis
  • Peritoneal Neoplasms / genetics
  • Peritoneal Neoplasms / secondary
  • Peritoneal Neoplasms / surgery*
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / pathology
  • Pregnancy Complications / surgery*
  • Proto-Oncogene Proteins c-myc / genetics
  • Treatment Outcome
  • Uterine Neoplasms / diagnosis
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / pathology
  • Uterine Neoplasms / surgery*

Substances

  • Biomarkers, Tumor
  • Cell Cycle Proteins
  • Co-Repressor Proteins
  • DAXX protein, human
  • MYC protein, human
  • Molecular Chaperones
  • NBN protein, human
  • Nuclear Proteins
  • Proto-Oncogene Proteins c-myc
  • CDK4 protein, human
  • Cyclin-Dependent Kinase 4