Abstract: Introduction: Primitive neuroectodermal tumors (PNETs) are rare and aggressive malignancies derived from primitive neural crest cells in the CNS, with peripheral variants known as peripheral PNETs (pPNETs) found in soft tissues. Diagnosing PNETs is challenging due to their rarity and resemblance to other neoplastic conditions like Ewing's sarcoma and rhabdomyosarcoma.
Case Presentation: A 3-year-old female child presented with a growing bump on her lips, causing obstruction of the mouth and both of the nostrils hence impairing daily living. Examination revealed an irregular mass with signs of tissue necrosis and bleeding. A blood test and head CT scan indicated a benign mass, potentially a hemangioma, with submandibular lymphadenopathy and leukocytosis. The patient underwent a debridement procedure and a subsequent operation to excise part of the mass for histopathological analysis. The results revealed a primitive neuroectodermal tumor, specifically a melanotic neuroectodermal tumor of infancy (MNTI).
Discussion: Peripheral PNETs are more commonly seen in older individuals with abdominal/pelvic and thoracic-pulmonary lesions being the most frequent. Our case of a 3-year- old Indonesian child with a distinct oral cavity PNET is considered rare among the age and race groups.
Conclusion: The case of a three-year-old Indonesian female child with peripheral PNET in the submandibular region is an uncommon presentation in terms of age, tumor location, race, and ethnicity. Clinicians should be aware of such rare possibilities and follow thorough histopathology and immunohistochemistry tests to establish an accurate diagnosis.
