Primary Esophageal Mixed Sarcomatoid and Small Cell Neuroendocrine Carcinoma With Brain Metastasis: A Challenging Diagnosis on Biopsy

Int J Surg Pathol. 2019 Feb;27(1):84-88. doi: 10.1177/1066896918782426. Epub 2018 Jul 16.

Abstract

Mixed carcinomas in the esophagus are highly uncommon neoplasms that represent a diagnostic challenge on small tissue biopsies. We present a case of a primary mixed sarcomatoid-small cell carcinoma of the esophagus that was diagnosed after repeat sampling of the lesion. The components were morphologically distinct and could be further classified by immunohistochemistry. Next-generation sequencing identified mutations in PIK3CA and CDKN2A. The small cell component morphology was also identified in brain metastasis.

Keywords: brain metastasis; esophagus; mixed tumor; sarcomatoid carcinoma; small cell carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / secondary*
  • Carcinoma, Neuroendocrine / genetics
  • Carcinoma, Neuroendocrine / secondary
  • Carcinoma, Small Cell / genetics
  • Carcinoma, Small Cell / secondary*
  • Carcinosarcoma / secondary*
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Esophageal Neoplasms / genetics
  • Esophageal Neoplasms / pathology*
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Neoplasms, Complex and Mixed / genetics
  • Neoplasms, Complex and Mixed / pathology*

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human