A Case of Mediastinal Carcinosarcoma With Beta-HCG Production and KRAS Mutation

Int J Surg Pathol. 2023 Dec;31(8):1598-1604. doi: 10.1177/10668969231166297. Epub 2023 Apr 3.

Abstract

Carcinosarcomas of mediastinum are rare and only few well-documented cases are available in the literature. We report a detailed description of mediastinal carcinosarcoma with unique clinical manifestations and immunohistochemical and molecular profiles. A 44-year-old female with an enlarging anterior mediastinal mass was found to have a positive pregnancy test. Thoracoscopic biopsy revealed that the mass represented a carcinosarcoma with adenocarcinoma and chondrosarcoma components. The tumor focally expressed beta-HCG by immunohistochemistry and had KRAS G12A missense mutation by next generation sequencing. The case documents a rare presentation of carcinosarcoma within the mediastinum with uncommon paraneoplastic syndrome and genetic profile. Awareness of these unusual clinical and pathological manifestations of the tumor will help in reaching correct diagnosis and proper management of such patients.

Keywords: KRAS mutation; beta-subunit of human chorionic gonadotropin; carcinosarcoma; mediastinum; sarcomatoid carcinoma; thymus.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma*
  • Adult
  • Carcinosarcoma* / diagnosis
  • Carcinosarcoma* / genetics
  • Carcinosarcoma* / pathology
  • Female
  • Humans
  • Mediastinum / pathology
  • Mutation
  • Pregnancy
  • Proto-Oncogene Proteins p21(ras) / genetics

Substances

  • Proto-Oncogene Proteins p21(ras)
  • KRAS protein, human