Craniospinal Germinomas in Patient with Down Syndrome Successfully Treated with Standard-Dose Chemotherapy and Craniospinal Irradiation: Case Report and Literature Review

World Neurosurg. 2017 Dec:108:995.e9-995.e15. doi: 10.1016/j.wneu.2017.09.024. Epub 2017 Sep 12.

Abstract

Background: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancer has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation, is reported.

Case description: The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss. The patient underwent 3 courses of combination chemotherapy using a standard dose of carboplatin and etoposide and 23.4 Gy of concurrent craniospinal irradiation. Posttreatment magnetic resonance imaging showed reduction of the tumors. Both fluorodeoxyglucose- and methionine-positron emission tomography demonstrated no uptake in the residual tumors. Follow-up magnetic resonance imaging and positron emission tomography did not reveal tumor recurrence for 18 months.

Conclusions: As far as we know, this is the first case of multiple craniospinal germinomas in a patient with DS who achieved a successful treatment result without fatal adverse events. The literature review indicated that disseminated germinomas may need intensive treatment to reduce recurrence risk. However, intensive chemotherapy using a combination of 3 or more anticancer drugs can increase the rate of treatment-related death during the early stage. Our case indicated that multiple craniospinal germinoma of DS patients could be treated with a standard dose of carboplatin and etoposide regimen with concurrent craniospinal irradiation along with appropriate supportive therapy and careful observation.

Keywords: Chemotherapy; Disseminated germinomas; Down syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Carboplatin / administration & dosage
  • Central Nervous System Neoplasms / complications
  • Central Nervous System Neoplasms / diagnostic imaging
  • Central Nervous System Neoplasms / therapy*
  • Craniospinal Irradiation / methods*
  • Down Syndrome / complications*
  • Etoposide / administration & dosage
  • Germinoma / complications
  • Germinoma / diagnostic imaging
  • Germinoma / therapy*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neoplasms, Multiple Primary / complications
  • Neoplasms, Multiple Primary / diagnostic imaging
  • Neoplasms, Multiple Primary / therapy*
  • Positron-Emission Tomography
  • Treatment Outcome

Substances

  • Etoposide
  • Carboplatin