Journal of Investigative Medicine High Impact Case Reports (Aug 2019)

Leptomeningeal Carcinomatosis From Carcinoma of Unknown Primary in a Young Patient: A Case Report and a Literature Review

  • Leila Moosavi MD,
  • Carlos D’Assumpcao MD,
  • Jonathan Bowen BSc,
  • Arash Heidari MD,
  • Everardo Cobos MD

DOI
https://doi.org/10.1177/2324709619869380
Journal volume & issue
Vol. 7

Abstract

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Leptomeningeal carcinomatosis, leptomeningeal meningitis, or, as referred here, leptomeningeal metastasis (LM), is a rare but frequently fatal complication seen in advanced stage of cancer either locally advanced or after a metastasis of a known primary cancer. We present a rare and uncommon case of leptomeningeal metastases from carcinoma of unknown primary. A 32-year-old female was diagnosed with LM; however, no known primary carcinoma was identified after 2 separate biopsies. The first biopsy of the right pre-tracheal lymph node showed poorly differentiated pan-keratin (AE1 and AE3) and placental alkaline phosphatase with the possibility of germ cell origin. Second cytology of cervical lymphadenopathy was remarkable for cytokeratin 7 and 20, placental alkaline phosphatase, and CDX2 suggestive of germ line tumor with both mucinous ovarian and gastrointestinal carcinomas. Unfortunately, the LM progressed rapidly despite multiple cycles of germ cell origin directed systemic and intrathecal chemotherapy, and the patient opted for hospice care without getting a chance to identify the primary source.