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Pilomyxoid astrocytoma in a patient with neurofibromatosis
Muhammad Faisal Khanani1, Cynthia Hawkins, Manohar Shroff
1Department of Hematology Oncology, Paediatric Brain Tumor Programme, Hospital for Sick Children, Toronto, Ontario, Canada.
Abstract:
Pilomyxoid astrocytoma (PMA), a recently described variant of low-grade astrocytoma is associated with a high rate of recurrence and a propensity for CSF seeding. While cases of PMA have been reported in infants and young children, there has been no report of PMA in patients with neurofibromatosis. The first reportable case of PMA occurring in a child with neurofibromatosis type 1 (NF1) is described. Following presentation with obstructive hydrocephalus, the patient underwent a partial resection of a third ventricular tumor. Histology confirmed the typical features of PMA. The patient demonstrated a partial response to chemotherapy. The authors review the literature on PMA and discuss the specific issues associated with this diagnosis in the context of a child with neurofibromatosis.
Insights
Pilomyxoid astrocytoma (PMA) is a rare brain tumor. This report details the first case of PMA in a child with neurofibromatosis type 1 (NF1), highlighting unique diagnostic and treatment considerations.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Genetics
Background:
- Pilomyxoid astrocytoma (PMA) is an aggressive variant of low-grade astrocytoma with high recurrence rates and cerebrospinal fluid (CSF) seeding potential.
- PMA typically affects infants and young children, but its occurrence in patients with neurofibromatosis has not been previously documented.
Observation:
- This report presents the first documented case of pilomyxoid astrocytoma in a child diagnosed with neurofibromatosis type 1 (NF1).
- The patient presented with obstructive hydrocephalus, necessitating partial resection of a third ventricular tumor.
- Histopathological examination confirmed the characteristic features of PMA.
Findings:
- The child with NF1 and PMA showed a partial response to chemotherapy.
- This case underscores the importance of considering PMA in the differential diagnosis of pediatric brain tumors, especially in the context of genetic syndromes like NF1.
Implications:
- This case expands the known clinical spectrum of pilomyxoid astrocytoma.
- It highlights the need for further research into the interplay between NF1 and PMA development and progression.
- Understanding these associations may lead to improved diagnostic strategies and tailored therapeutic approaches for affected children.
