Malignant peripheral neuroectodermal tumor in an infant with neurofibromatosis type 1

Med Pediatr Oncol. 1996 Mar;26(3):215-9. doi: 10.1002/(SICI)1096-911X(199603)26:3<215::AID-MPO12>3.0.CO;2-F.

Abstract

A case of multifocal malignant peripheral neuroectodermal tumor (PNET) arising from a plexiform neurofibroma in a 4-month-old Chinese boy with neurofibromatosis type 1 (NF-1) is described. Cytogenetic culture demonstrated hypotriploid karyotype with an abnormal clone characterized by 59-60, XY, +2, +3, +6, +8, +8, +12, +i(13)(q10), +der(14)t(1;14)(q21;q32), +16, +19, +20, +mar[cp3] with no apparent abnormality of chromosome 17. The child was treated with combination chemotherapy comprising ifosphamide, vincristine and doxorubicin. Despite initial partial response the child finally died of tumor progression and pulmonary metastases 8 months after diagnosis. We believe this is the first reported case of PNET in a child with NF-1 and may support an association between these two disorders of neural crest origin.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / therapy
  • Neuroectodermal Tumors, Primitive, Peripheral / diagnosis*
  • Neuroectodermal Tumors, Primitive, Peripheral / pathology
  • Neuroectodermal Tumors, Primitive, Peripheral / therapy
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / pathology
  • Neurofibromatosis 1 / therapy