Spinal Atypical Rhabdoid Teratoid Tumor in an Adult Woman: Case Report and Review of the Literature

World Neurosurg. 2019 Aug:128:196-199. doi: 10.1016/j.wneu.2019.05.007. Epub 2019 May 10.

Abstract

Background: Atypical rhabdoid teratoid tumors are very rare embryonal tumors that typically affect children younger than 3 years old and are encountered intracranially.

Case description: Here, we describe the case of a 19-year-old woman who presented with gait disturbances and coccydynia. Imaging revealed a cauda equina mass. The tumor was partially resected. Histology reported loss of SMARCB1/INI1 expression and therefore the diagnosis of atypical rhabdoid teratoid was established. The patient underwent radiation treatment, but within 3 months 2 relapses were manifested.

Conclusions: Atypical rhabdoid teratoids are exceptionally rare in adults and are seldom found in spine; only 8 such cases have been reported in the medical literature. They are invariantly characterized by multiple relapses and dismal prognosis. The clinician must be attentive of leptomeningeal disseminations and 22q11 deletion-associated comorbidities.

Keywords: ATRT; Adult; Atypical rhabdoid teratoid tumors; Spinal.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Age of Onset
  • Cauda Equina / diagnostic imaging*
  • Cauda Equina / surgery
  • Female
  • Humans
  • Laminectomy
  • Neurosurgical Procedures
  • Peripheral Nervous System Neoplasms / diagnostic imaging*
  • Peripheral Nervous System Neoplasms / metabolism
  • Peripheral Nervous System Neoplasms / therapy
  • Radiotherapy
  • Rhabdoid Tumor / diagnostic imaging*
  • Rhabdoid Tumor / metabolism
  • Rhabdoid Tumor / therapy
  • SMARCB1 Protein / metabolism
  • Teratoma / diagnostic imaging*
  • Teratoma / metabolism
  • Teratoma / therapy
  • Young Adult

Substances

  • SMARCB1 Protein
  • SMARCB1 protein, human

Supplementary concepts

  • Teratoid Tumor, Atypical