Schwannoma of the esophagus discovered while examining charcot-marie-tooth disease

Takuro Konno, Fumiyoshi Fujishima, Hirotaka Ishida, Ken Ito, Yohei Ozawa, Jin Teshima, Tadashi Sakurai, Toru Nakano, Takashi Kamei, Hironobu Sasano

Research output: Contribution to journalArticlepeer-review

Abstract

We report a rare case of peripheral neuropathy caused by Charcot-Marie-Tooth disease (CMT) in which a schwannoma of the esophagus was coincidentally found. A 41-year-old woman was found to have an upper mediastinal tumor, 25 mm in size, on a chest CT while undergoing an examination for CMT. Upper gastrointestinal endoscopy showed a submucosal tumor, however we were unable to give a diagnosis with an endoscopic ultrasoundguided fine-needle aspiration biopsy. Esophageal submucosal tumor resection was performed with thoracoscopic assistance. The tumor was composed of spindle cells with palisaded patterns. Immunohistochemical studies revealed the tumor cells were diffusely positive for S-100 protein and low levels of Ki-67 expression, which represents schwannoma. The patient is now being treated for CMT. Although it seems that the co-occurrence of CMT and esophageal schwannoma would be extremely rare, these could be caused by a same genetic abnormality.

Original languageEnglish
Pages (from-to)1059-1065
Number of pages7
JournalJapanese Journal of Gastroenterological Surgery
Volume49
Issue number11
DOIs
Publication statusPublished - 2016

Keywords

  • Charcot-Marie-Tooth disease
  • Esophagus
  • Schwannoma

ASJC Scopus subject areas

  • Surgery
  • Gastroenterology

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