Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome

J Pediatr Hematol Oncol. 2015 May;37(4):e238-41. doi: 10.1097/MPH.0000000000000236.

Abstract

We describe a boy with Schinzel-Giedion syndrome who developed refractory sacrococcygeal germ cell tumor with elements of embryonal carcinoma and immature teratoma. He developed local recurrence soon after tumor resection. The tumor was highly resistant to platinum-based combination chemotherapy, local irradiation, and salvage chemotherapy. Frequent infections resulted in a delay in treatment, although apparent fragility had not been observed clinically. He died from tumor progression at 32 months of age. Intensification of chemotherapy does not seem to be feasible for tumors in patients with Schinzel-Giedion syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Carrier Proteins / genetics
  • Child, Preschool
  • Craniofacial Abnormalities / complications*
  • Hand Deformities, Congenital / complications*
  • Humans
  • Intellectual Disability / complications*
  • Male
  • Mutation
  • Nails, Malformed / complications*
  • Neoplasms, Germ Cell and Embryonal / etiology
  • Neoplasms, Germ Cell and Embryonal / genetics
  • Neoplasms, Germ Cell and Embryonal / therapy*
  • Nuclear Proteins / genetics
  • Sacrococcygeal Region

Substances

  • Carrier Proteins
  • Nuclear Proteins
  • SETBP1 protein, human

Supplementary concepts

  • Schinzel-Giedion syndrome