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Related Experiment Videos

Inherited macrocephaly-hamartoma syndromes

J H DiLiberti1

  • 1Department of Pediatrics, University of Illinois College of Medicine at Peoria, Children's Hospital of Illinois at OSF Saint Francis Medical Center 61637, USA. JHD@UIC.edu

American Journal of Medical Genetics
|October 22, 1998
PubMed
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Discoveries in PTEN gene research suggest unifying distinct syndromes like Cowden and Bannayan-Zonana into a single PTEN MATCHS syndrome, encompassing macrocephaly, hamartomata, and cancer risks.

Area of Science:

  • Genetics and Molecular Biology
  • Syndromology
  • Cancer Predisposition Syndromes

Background:

  • The phosphatase and tensin homolog (PTEN) gene, located on chromosome 10q22-23, plays a crucial role in cell growth and tumor suppression.
  • Previously, several distinct clinical syndromes were recognized, including Cowden syndrome, Bannayan-Zonana syndrome, Riley-Ruvalcaba syndrome, and Lhermitte-Duclos syndrome, along with benign familial macrocephaly and external hydrocephalus.

Purpose of the Study:

  • To present molecular and clinical evidence supporting the unification of several distinct syndromes into a single entity.
  • To propose a new nomenclature for this unified syndrome based on its characteristic clinical features.

Main Methods:

  • Review and synthesis of recent molecular biology findings related to the PTEN locus.

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  • Analysis of clinical data from patients diagnosed with the aforementioned syndromes.
  • Correlation of genetic findings with observed phenotypic abnormalities.

    • Main Results:

    • Evidence strongly supports unifying Cowden and Bannayan-Zonana syndromes.
    • The findings also strongly suggest including Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, benign familial macrocephaly, and external hydrocephalus under this unified entity.
    • A new nomenclature, PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome, is proposed.

    Conclusions:

    • The PTEN gene is central to a spectrum of related disorders previously considered separate.
    • The proposed PTEN MATCHS syndrome provides a unified framework for understanding and diagnosing these conditions.
    • This unification facilitates a more cohesive approach to research, diagnosis, and management of patients with PTEN-related disorders.