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Pleomorphic xanthoastrocytoma with NTRK fusion presenting as spontaneous intracranial hemorrhage-case report and literature review.
Wu, Yilong; Aw, Sze Jet; Jain, Swati; Ooi, Li Yin; Tan, Enrica E K; Chang, Kenneth T E; Teo, Harvey J; Seow, Wan Tew; Low, Sharon Y Y.
Afiliación
  • Wu Y; Neurosurgical Service, KK Women's and Children's Hospital, Singapore, Singapore.
  • Aw SJ; Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
  • Jain S; Division of Neurosurgery, University Surgical Cluster, National University Health System, Singapore, Singapore.
  • Ooi LY; Department of Pathology, National University Hospital, National University Health System, Singapore, Singapore.
  • Tan EEK; Paediatric Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore.
  • Chang KTE; Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
  • Teo HJ; Department of Diagnostic and Interventional Imaging, KK Women's and Children's Hospital, Singapore, Singapore.
  • Seow WT; Neurosurgical Service, KK Women's and Children's Hospital, Singapore, Singapore.
  • Low SYY; Department of Neurosurgery, National Neuroscience Institute, Singapore, Singapore.
Front Pediatr ; 12: 1378608, 2024.
Article en En | MEDLINE | ID: mdl-39108689
ABSTRACT

Background:

Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor that accounts for <1% of all gliomas. An in-depth understanding of PXA's molecular makeup remains a work in progress due to its limited numbers globally. Separately, spontaneous intracranial hemorrhage (pICH) is an uncommon but potentially devastating emergency in young children, often caused by vascular malformations or underlying hematological conditions. We describe an interesting case of a toddler who presented with pICH, later found to have a PXA as the underlying cause of hemorrhage. Further molecular interrogation of the tumor revealed a neurotrophic tyrosine receptor kinase (NTRK) gene fusion and CDKN2A deletion more commonly seen in infantile high-grade gliomas. The unusual clinicopathological features of this case are discussed in corroboration with published literature. Case presentation A previously well 2-year-old male presented with acute drowsiness and symptoms of increased intracranial pressure secondary to a large right frontoparietal intracerebral hematoma. He underwent an emergency craniotomy and partial evacuation of the hematoma for lifesaving measures. Follow-up neuroimaging reported a likely right intra-axial tumor with hemorrhagic components. Histology confirmed the tumor to be a PXA (WHO 2). Additional molecular investigations showed it was negative for BRAFV600E mutation but was positive for CDKN2A homozygous deletion and a unique neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The patient subsequently underwent second-stage surgery to proceed with maximal safe resection of the remnant tumor, followed by the commencement of adjuvant chemotherapy.

Conclusion:

To date, there are very few pediatric cases of PXA that present with spontaneous pICH and whose tumors have undergone thorough molecular testing. Our patient's journey highlights the role of a dedicated multidisciplinary neuro-oncology team to guide optimal treatment.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Suiza