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Peripheral primitive neuroectodermal tumor presenting with diffuse cutaneous involvement and 7;22 translocation

L M Smith1, R H Adams, A R Brothman

  • 1Department of Radiation Oncology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.

Medical and Pediatric Oncology
|May 20, 1998
PubMed
Summary
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This study details a rare infant peripheral primitive neuroectodermal tumor (pPNET) with congenital nodules and a specific genetic translocation. The tumor evolved from slow-growing to aggressive with metastasis and further genetic changes.

Area of Science:

  • Pediatric Oncology
  • Cancer Genetics
  • Dermatology

Background:

  • Peripheral primitive neuroectodermal tumors (pPNET) are rare, aggressive neoplasms.
  • Congenital presentation of pPNET is exceptionally uncommon.
  • Specific cytogenetic abnormalities, such as translocations, are key in diagnosing and understanding PNETs.

Observation:

  • An infant presented with congenital cutaneous nodules.
  • Initial diagnosis revealed a peripheral primitive neuroectodermal tumor (pPNET) with a t(7;22)(p21;q11.2) translocation.
  • The tumor exhibited a unique biologic behavior, transitioning over time.

Findings:

  • The pPNET initially presented as a slowly growing tumor with multiple cutaneous nodules.
  • Over time, the neoplasm became more aggressive, developing pulmonary metastases.

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  • A soft tissue mass showed additional, distinct cytogenetic alterations, indicating tumor evolution.

    • Implications:

    • This case highlights the diverse clinical and genetic spectrum of pPNET in infants.
    • Understanding tumor evolution and secondary genetic changes is crucial for prognosis and treatment.
    • Further research into congenital pPNETs and their genetic drivers is warranted.