gms | German Medical Science

64th Annual Meeting of the German Society of Neurosurgery (DGNC)

German Society of Neurosurgery (DGNC)

26 - 29 May 2013, Düsseldorf

Atypical chordoma with loss of SMARCB1/INI1 expression: report of 3 different clinical courses in pediatric patients

Meeting Abstract

  • Mario Mühmer - Neurochirurgische Klinik, Heinrich-Heine-Universität, Düsseldorf
  • Jörg Felsberg - Institut für Neuropathologie, Heinrich-Heine-Universität, Düsseldorf
  • Thomas Beez - Neurochirurgische Klinik, Heinrich-Heine-Universität, Düsseldorf
  • Gisela Janßen - Klinik für Kinder-Onkologie, Hämatologie und Klinische Immunologie, Heinrich-Heine-Universität, Düsseldorf
  • Hans-Jakob Steiger - Neurochirurgische Klinik, Heinrich-Heine-Universität, Düsseldorf
  • Sevgi Sarikaya-Seiwert - Neurochirurgische Klinik, Heinrich-Heine-Universität, Düsseldorf

Deutsche Gesellschaft für Neurochirurgie. 64. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC). Düsseldorf, 26.-29.05.2013. Düsseldorf: German Medical Science GMS Publishing House; 2013. DocMI.15.05

doi: 10.3205/13dgnc410, urn:nbn:de:0183-13dgnc4105

Published: May 21, 2013

© 2013 Mühmer 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: Chordoma is a rare, potentially malignant neoplasm, believed to derive from the fetal notochord affecting adults primarily. It occurs in the whole neuroaxis, but is mainly seen in the clival or sacral area. For poorly differentiated chordoma, loss of expression of SMARCB1/INI1, a possible tumor suppressor gene, has been described recently. Here, we report three cases of children with atypical chordoma and loss of SMARCB1/INI1 expression all with completely different clinical manifestations, thereby reviewing the literature.

Method: We retrospectively reviewed all patients identified with an atypical chordoma. Patient demographics, clinical presentation, operative procedures, pathology, and outcome were determined.

Results: Of the three cases, two presented with ongoing sensible deficits and motor weakness of the limbs, the other one with palsy of the abducens nerve. The neoplasms were located in the clival area, the cervical and the lumbosacral spine. All three cases presented with bony infiltration. MRI revealed contrast enhancing lesions. Histopathological workup resulted in increased proliferation rate and loss of expression of SMARCB1/INI1 accordable to a poorly differentiated chordoma. All patients received surgery, followed by adjuvant radiation and chemotherapy in two cases and proton beam therapy in one case. Early metastasis in the lung, liver and local lymph nodules has been seen in one child, early recurrence in another whereas the third child is still recurrence free.

Conclusions: Atypical chordomas in children are aggressive neoplasms with a high incidence of recurrence. Loss of expression of SMARCB1/ INI1 seems to be important for malignant transformation of chordomas and for their clinical manifestation. In the case of loss of expression of SMARCB1/ INI1 a staging for systemic metastasis should be added. In addition to avoid early recurrence the neoadjuvant and adjuvant therapeutic strategies should follow closely after surgical resection.