gms | German Medical Science

62nd Annual Meeting of the German Society of Neurosurgery (DGNC)
Joint Meeting with the Polish Society of Neurosurgeons (PNCH)

German Society of Neurosurgery (DGNC)

7 - 11 May 2011, Hamburg

Rhabdoid tumor predisposition syndrome in a three-month-old infant

Meeting Abstract

  • B. Vienenkötter - Clinic of Neurosurgery, University Hospital Heidelberg
  • O. Witt - Paediatric Clinic, University Hospital Heidelberg
  • A. von Deimling - Department of Neuropathology, University Hospital Heidelberg
  • A. Unterberg - Clinic of Neurosurgery, University Hospital Heidelberg
  • H. Bächli - Clinic of Neurosurgery, University Hospital Heidelberg

Deutsche Gesellschaft für Neurochirurgie. Polnische Gesellschaft für Neurochirurgen. 62. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Polnischen Gesellschaft für Neurochirurgen (PNCH). Hamburg, 07.-11.05.2011. Düsseldorf: German Medical Science GMS Publishing House; 2011. DocP 064

doi: 10.3205/11dgnc285, urn:nbn:de:0183-11dgnc2857

Published: April 28, 2011

© 2011 Vienenkötter et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.



Objective: Primary atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant neoplasms in infants and young children. This aggressive central nervous system (CNS) tumor may have a genetic mutation in the tumor suppressor gene SMARCB1 (hSNF5/INI1) with early metastases. They typically occur in children less than two years of age and can involve any part of the CNS though they most commonly affect the posterior fossa.

Methods: A three-month-old boy presented with a fast-growing nuchal swelling from birth, which was excised. The histology was ambiguous; therefore a cranial MRI was performed, which showed a large tumor in the posterior fossa with compression of the cerebellum and consecutive hydrocephalus. The patient had no neurological deficits. Tumor staging showed no spinal or osseous dissemination with the exception of one suspicious submandibular lymph node.

Results: A suboccipital craniotomy and a macroscopic total tumor resection were performed. A Rickham reservoir was implanted for further intrathecal chemotherapy. The neuropathologist diagnosed an AT/RT and reviewed the histology of the nuchal tumor, remarking that this was likely a metastasis from the intracranial AT/RT. The submandibular lymph node was also positive for metastases. An extensive chemotherapy (protocol of EU-RHAB 2010) was performed with intravenous and intrathecal therapy, followed by a high-dose therapy and autologous stem cell transplantation. Complete tumor regression was seen following treatment. Six months later, a possible tumor relapse could not be excluded and further radiological controls were initiated. Due to the unusual synchronous presentations of the AT/RT the patient was screened for germline mutations, confirming the diagnosis of presence of a rhabdoid tumor predisposition syndrome.

Conclusions: The rhabdoid tumor predisposition syndrome is caused by a spontaneous germline mutation in the SMARCB1 gene. This tumor suppressor gene is associated with malignant rhabdoid tumors. This might account for the synchronous neck and intracranial tumors. The mutation is a prognostic factor for rapid tumor progression.