Atypical teratoid/rhabdoid tumor (AT/RT) arising from the acoustic nerve in a young adult: a case report and a review of literature

Medicine (Baltimore). 2015 Jan;94(4):e439. doi: 10.1097/MD.0000000000000439.

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, highly malignant central nervous system tumors that predominantly occur in young children. A 22-year-old woman presented with a 4-year history of relapsing tinnitus and gradual hearing loss. Neuroimaging revealed an enhanced intrinsic left internal auditory canal mass. The patient underwent radiotherapy treatment. Three years later, the tumor size continued to increase, as observed by imaging, and ultimately evolved into the left cerebellopontine angle. As a consequence, a total tumor resection was performed, and a pathological diagnosis of AT/RT was made. Aggressive radiotherapy and chemotherapy treatment continued; however, the tumor recurred within 11 months after the total tumor resection. The patient died within 4 months of the second operation. Histopathologically, the tumor contained characteristic rhabdoid cells with areas that resembled a classical primitive neuroectodermal tumor. Immunostaining showed loss of INI1 protein expression in tumor cells, and fluorescence in situ hybridization showed a hemizygous deletion of the hSNF5/INI1 gene region on 22q11.2. This is the first report of an AT/RT that arised from the acoustic nerve in a young adult. Despite manifold diagnostic and therapeutic advances, the prognosis of patients with AT/RT remains poor.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chemotherapy, Adjuvant
  • Cochlear Nerve / pathology*
  • Cochlear Nerve / surgery
  • Cranial Nerve Neoplasms / pathology*
  • Cranial Nerve Neoplasms / therapy
  • Fatal Outcome
  • Female
  • Hearing Loss / etiology
  • Humans
  • Radiotherapy, Adjuvant
  • Reoperation
  • Rhabdoid Tumor / pathology*
  • Rhabdoid Tumor / therapy
  • Teratoma / pathology*
  • Teratoma / therapy
  • Tinnitus / etiology
  • Vestibulocochlear Nerve Diseases / pathology*
  • Vestibulocochlear Nerve Diseases / therapy
  • Young Adult

Supplementary concepts

  • Teratoid Tumor, Atypical