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Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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Published on: December 18, 2019

Hereditary multiple exostoses and enchondromatosis.

Stéphanie Pannier1, Laurence Legeai-Mallet

  • 1INSERM U781, Hôpital Necker, Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

Best Practice & Research. Clinical Rheumatology
|March 11, 2008
PubMed
Summary

Hereditary multiple exostoses (HME) involves benign bone tumors called osteochondromas, often linked to EXT1/EXT2 gene mutations. Ollier disease and Maffucci syndrome feature cartilaginous tumors but are typically not inherited.

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Area of Science:

  • Skeletal dysplasias and genetic disorders.

Background:

  • Hereditary multiple exostoses (HME) is an autosomal-dominant condition causing osteochondromas, affecting 1 in 50,000 births.
  • Osteochondromas can lead to pain, deformities, restricted joint motion, and a 5% risk of malignant transformation.
  • HME is linked to mutations in tumor suppressor genes EXT1 or EXT2, crucial for heparan sulfate biosynthesis.

Purpose of the Study:

  • To differentiate Hereditary Multiple Exostoses (HME) from enchondromatosis (Ollier disease) and Maffucci syndrome.
  • To highlight the genetic basis and clinical manifestations of HME.
  • To outline the varying prevalence and potential complications of these bone tumor disorders.

Main Methods:

  • Review of clinical and genetic characteristics of HME, Ollier disease, and Maffucci syndrome.
  • Comparison of disease prevalence, inheritance patterns, and associated genetic mutations.
  • Analysis of potential complications, including skeletal deformities and malignant transformation risks.

Main Results:

  • HME is characterized by outward-growing osteochondromas due to EXT1/EXT2 mutations, with variable severity and complications.
  • Ollier disease involves intra-osseous cartilaginous tumors with asymmetrical distribution, variable presentation, and a higher risk of chondrosarcoma (20-50%).
  • Maffucci syndrome associates enchondromas with hemangiomas; both Ollier disease and Maffucci syndrome are typically non-inherited.

Conclusions:

  • HME, Ollier disease, and Maffucci syndrome are distinct skeletal disorders with different genetic underpinnings and clinical outcomes.
  • Understanding these differences is crucial for accurate diagnosis, management, and genetic counseling.
  • The risk of malignant transformation varies significantly among these conditions, necessitating careful monitoring.