HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.

Abstract
Ollier disease and Maffucci syndrome are rare, nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co-existing multiple hemangiomas of soft tissue. Enchondromas can progress toward central chondrosarcomas. PTH1R mutations are found in a small subset of Ollier patients. The genetic deficit in Maffucci syndrome is unknown. Here, we report the first genome-wide analysis using Affymetrix SNP 6.0 array on Maffucci enchondromas (n = 4) and chondrosarcomas (n = 2) from four cases. Results were compared to a previously studied cohort of Ollier patients (n = 37). We found no loss of heterozygosity (LOH) or common copy number alterations shared by all enchondromas, with the exception of some copy number variations. As expected, chondrosarcomas were found to have multiple genomic imbalances. This is similar to conventional solitary and Ollier-related enchondromas and chondrosarcomas and supports the multistep genetic progression model. Expression profiling using Illumina BeadArray-v3 chip revealed that cartilaginous tumors in Maffucci patients are more similar to such tumors in Ollier patients than to sporadic cartilage tumors. Point mutations in a single gene or other copy number neutral genomic changes might play a role in enchondromagenesis.
AuthorsTwinkal C Pansuriya, Jan Oosting, Suzan H M Verdegaal, Adrienne M Flanagan, Raf Sciot, Lars-Gunnar Kindblom, Pancras C W Hogendoorn, Karoly Szuhai, Judith V M G Bovée
JournalGenes, chromosomes & cancer (Genes Chromosomes Cancer) Vol. 50 Issue 9 Pg. 673-9 (Sep 2011) ISSN: 1098-2264 [Electronic] United States
PMID21584901 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2011 Wiley-Liss, Inc.
Topics
  • Adolescent
  • Adult
  • Child
  • Chondrosarcoma (genetics)
  • Cluster Analysis
  • DNA Copy Number Variations
  • Enchondromatosis (genetics)
  • Female
  • Femoral Neoplasms (genetics)
  • Gene Expression Profiling
  • Genes, Neoplasm
  • Genome-Wide Association Study
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: