Ovarian Carcinosarcoma and Concurrent Serous Tubal Intraepithelial Carcinoma With Next-Generation Sequencing Suggesting an Origin From the Fallopian Tube

Int J Surg Pathol. 2019 Aug;27(5):574-579. doi: 10.1177/1066896919838347. Epub 2019 Mar 27.

Abstract

Background. Ovarian carcinosarcomas are rare aggressive biphasic tumors. Evidence suggests that these tumors are monoclonal and that the sarcoma component is derived from a stem cell undergoing divergent differentiation. Currently, there remains a paucity of data regarding its origin, with few reports suggesting an association with serous tubal intraepithelial carcinoma (STIC) by immunohistochemistry and genetics. Objective. We sought to determine the relationship of carcinosarcoma to high-grade serous carcinoma and STIC by investigating for similar mutation signatures through next-generation sequencing. Methodology. A case of carcinosarcoma with associated high-grade serous carcinoma and STIC was macrodissected, and next-generation sequencing was performed on each component separately. Results. The STIC, high-grade serous carcinoma component, and chondrosarcoma component were all diffusely positive for p53 and p16 by immunohistochemistry. Next-generation sequencing demonstrated an identical TP53 gene c.376-1G>A 5' splice site pathogenic mutation in all 3 components. Conclusions. Our findings suggest that carcinosarcomas may also originate from the fallopian tube.

Keywords: TP53; carcinosarcoma; malignant mixed Mullerian tumor; next-generation sequencing; serous tubal intraepithelial carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Carcinosarcoma / diagnosis
  • Carcinosarcoma / genetics*
  • Carcinosarcoma / secondary
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Cystadenocarcinoma, Serous / diagnosis
  • Cystadenocarcinoma, Serous / genetics*
  • Cystadenocarcinoma, Serous / secondary
  • DNA Mutational Analysis
  • Fallopian Tube Neoplasms / diagnosis
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / pathology*
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mixed Tumor, Mullerian / diagnosis
  • Mixed Tumor, Mullerian / genetics*
  • Mixed Tumor, Mullerian / secondary
  • Mutation
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / secondary
  • Tumor Suppressor Protein p53 / genetics

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • TP53 protein, human
  • Tumor Suppressor Protein p53