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Peripheral primitive neuroectodermal tumor: a case report.

Alije Keka-Sylaj1,2, Atifete Ramosaj3,4, Arbana Baloku4

  • 1Institute of Anatomy, Pediatric Clinic, Faculty of Medicine, University of Prishtina, Prishtina, 10000, Kosovo. alije.keka@uni-pr.edu.

Journal of Medical Case Reports
|March 31, 2022
PubMed
Summary

Peripheral primitive neuroectodermal tumors (PNETs) are rare, aggressive cancers. This case highlights PNETs presenting as a mediastinal mass in a child initially misdiagnosed with Guillain-Barré syndrome.

Keywords:
ChildrenMediastinal tumorMusculoskeletal manifestationsPrimitive neuroectodermal tumor

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Area of Science:

  • Pediatric Oncology
  • Medical Imaging
  • Pathology

Background:

  • Primitive neuroectodermal tumors (PNETs) are rare, aggressive small round cell malignancies.
  • PNETs share features with Ewing's sarcoma and can occur outside the central nervous system.
  • Peripheral PNETs of the chest wall are uncommon in pediatric patients.

Observation:

  • A 4-year-old girl presented with symptoms mimicking Guillain-Barré syndrome, including limb weakness and pain.
  • Respiratory symptoms like cough and dyspnea developed, leading to further investigation.
  • Imaging revealed a large posterior mediastinal mass causing significant mediastinal shift.

Findings:

  • Histopathology and immunohistochemistry confirmed the diagnosis of PNET.
  • Tumor cells were positive for S-100 and CD99 markers.
  • A Ki-67 proliferation index of approximately 20% indicated high tumor activity.

Implications:

  • This case underscores the importance of considering peripheral primitive neuroectodermal tumors in the differential diagnosis of pediatric mediastinal masses.
  • Early recognition and diagnosis are crucial for appropriate management of these aggressive tumors.
  • Musculoskeletal symptoms in children can be indicative of various conditions, including rare solid tumors like PNETs.