European Journal of Pediatrics

, Volume 167, Issue 2, pp 225–229

Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects

Authors

    • Department of Pediatric Hematology and Oncology Saarland UniversityUniversity Children’s Hospital
  • Harald Reinhard
    • Department of Pediatric Hematology and Oncology Saarland UniversityUniversity Children’s Hospital
  • Constanze Pagenstecher
    • Institute of Human GeneticsUniversity Hospital Bonn
  • Stefan Krüger
    • Department of Surgical Research and Institute of Clinical GeneticsDresden University of Technology
  • Jochen Raedle
    • Department of Internal Medicine II, Division of GastroenterologySaarland University
  • Guido Plotz
    • Department of Internal Medicine II, Division of GastroenterologySaarland University
  • Wolfram Henn
    • Institute of Human GeneticsSaarland University
  • Reinhard Buettner
    • Institute of PathologyUniversity Hospital Bonn
  • Sascha Meyer
    • Department of Pediatric Hematology and Oncology Saarland UniversityUniversity Children’s Hospital
  • Norbert Graf
    • Department of Pediatric Hematology and Oncology Saarland UniversityUniversity Children’s Hospital
Original Article

DOI: 10.1007/s00431-007-0474-3

Cite this article as:
Gottschling, S., Reinhard, H., Pagenstecher, C. et al. Eur J Pediatr (2008) 167: 225. doi:10.1007/s00431-007-0474-3

Abstract

A boy showing symptoms of a Turcot-like childhood cancer syndrome together with stigmata of neurofibromatosis type I is reported. His brother suffers from an infantile myofibromatosis, and a sister died of glioblastoma at age 7. Another 7-year-old brother is so far clinically unaffected. The parents are consanguineous. Molecular diagnosis in the index patient revealed a constitutional homozygous mutation of the mismatch repair gene PMS2. The patient was in remission of his glioblastoma (WHO grade IV) after multimodal treatment followed by retinoic acid chemoprevention for 7 years. After discontinuation of retinoic acid medication, he developed a relapse of his brain tumour together with the simultaneous occurrence of three other different HNPCC-related carcinomas. We think that retinoic acid might have provided an effective chemoprevention in this patient with homozygous mismatch repair gene defect. We propose to take a retinoic acid chemoprevention into account in children with proven biallelic PMS2 mismatch repair mutations being at highest risk concerning the development of a malignancy.

Keywords

TurcotRetinoic acidLynchChildhood cancer syndromePMS2

Copyright information

© Springer-Verlag 2007