Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report

Diagn Pathol. 2019 Feb 11;14(1):17. doi: 10.1186/s13000-019-0795-3.

Abstract

Background: Retroperitoneal high-grade serous carcinoma (HGSC) is extremely rare and the origin remains unclear. We present a case of retroperitoneal HGSC and coexisting serous tubal intraepithelial carcinoma (STIC), which is considered as the main origin of ovarian HGSC. We reviewed the available literature and discussed about the origin of this rare disease.

Case presentation: A 58-year-old female with a 93 × 65 × 62 mm-solid tumor with a cystic part was located immediately dorsal to the rectum underwent bilateral salpingo-oophorectomy, total abdominal hysterectomy, and en bloc resection of the retroperitoneal tumor together with lower anterior resection of the rectum. Histological diagnosis was retroperitoneal HGSC and STIC at the right fallopian tube. Two deleterious somatic mutations in TP53 and BRCA2 genes were shared between retroperitoneal HGSC and STIC.

Conclusions: In addition to clinical features in the previous reports, our genetic findings suggest the origin of retroperitoneal HGSC might be STIC.

Keywords: Case report; Retroperitoneal high-grade serous carcinoma; Serous tubal intraepithelial carcinoma; Somatic mutation.

Publication types

  • Case Reports

MeSH terms

  • BRCA2 Protein / genetics
  • Carcinoma in Situ / genetics
  • Carcinoma in Situ / pathology*
  • Cystadenocarcinoma, Serous / genetics
  • Cystadenocarcinoma, Serous / secondary
  • DNA Mutational Analysis
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / pathology*
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Neoplasms, Second Primary / genetics
  • Neoplasms, Second Primary / pathology*
  • Retroperitoneal Neoplasms / genetics
  • Retroperitoneal Neoplasms / secondary*
  • Tumor Suppressor Protein p53 / genetics

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • TP53 protein, human
  • Tumor Suppressor Protein p53