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Neoplasms in Proteus syndrome

P L Gordon1, R S Wilroy, O E Lasater

  • 1Division of Genetics, University of Tennessee, Memphis, USA.

American Journal of Medical Genetics
|May 22, 1995
PubMed
Summary
This summary is machine-generated.

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Proteus syndrome, a rare overgrowth disorder, is associated with an increased risk of neoplasms. This study details two pediatric cases, highlighting potential links between Proteus syndrome and specific cancers like mesothelioma and ovarian cystadenomas.

Area of Science:

  • Oncology
  • Genetics
  • Pediatrics

Background:

  • Proteus syndrome is a rare congenital disorder characterized by segmental overgrowth of multiple body parts.
  • Individuals with Proteus syndrome have an increased predisposition to developing various neoplasms.
  • Understanding the oncogenic pathways in Proteus syndrome is crucial for patient management.

Observation:

  • Two pediatric patients diagnosed with Proteus syndrome presented with distinct neoplastic conditions.
  • Patient 1 developed a probable mesothelioma, with a differential diagnosis including papillary thyroid carcinoma.
  • Patient 2 exhibited bilateral ovarian serous cystadenomas demonstrating nuclear atypia.

Findings:

  • The cases suggest a potential association between Proteus syndrome and the development of specific malignant and benign neoplasms.

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  • The observed neoplasms, mesothelioma and ovarian cystadenomas with atypia, represent unusual occurrences in the context of Proteus syndrome.
  • Further investigation into the etiologic and pathogenetic mechanisms linking Proteus syndrome and neoplasia is warranted.

    • Implications:

    • These findings underscore the importance of vigilant cancer surveillance in pediatric patients with Proteus syndrome.
    • Identifying the underlying genetic or molecular links could lead to targeted therapies or preventative strategies.
    • This report contributes to the limited literature on neoplasia in Proteus syndrome, aiding future research and clinical practice.