Document Detail

Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
MedLine Citation:
PMID:  17387511     Owner:  NLM     Status:  MEDLINE    
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.
Sven Gottschling; Harald Reinhard; Constanze Pagenstecher; Stefan Krüger; Jochen Raedle; Guido Plotz; Wolfram Henn; Reinhard Buettner; Sascha Meyer; Norbert Graf
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-03-27
Journal Detail:
Title:  European journal of pediatrics     Volume:  167     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2007-12-24     Completed Date:  2008-05-22     Revised Date:  2008-06-05    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  225-9     Citation Subset:  IM    
Department of Pediatric Hematology and Oncology Saarland University, University Children's Hospital, Homburg, Germany.
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MeSH Terms
Adenomatous Polyps / genetics,  prevention & control
Adenosine Triphosphatases / genetics*
Base Pair Mismatch
Brain Neoplasms / drug therapy,  genetics,  prevention & control*
Colorectal Neoplasms / genetics,  prevention & control
DNA Repair Enzymes / genetics*
DNA-Binding Proteins / genetics*
Germ-Line Mutation
Glioblastoma / drug therapy,  genetics,  prevention & control*
Magnetic Resonance Imaging
Microsatellite Instability
Microsatellite Repeats
Neoplasm Recurrence, Local / prevention & control*
Tretinoin / therapeutic use*
Reg. No./Substance:
0/DNA-Binding Proteins; 302-79-4/Tretinoin; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/PMS2 protein, human; EC 6.5.1.-/DNA Repair Enzymes

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