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Infant-Type Hemispheric Glioma in a Chinese Girl: A Newly Defined Entity
Yuan Fang1, Yi-Zhen Wang1, Xia Wei1
1Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
Fetal and Pediatric Pathology
|April 11, 2022
Summary
A new infant brain tumor, hemispheric glioma, was identified. This case reveals a TPM3-NTRK1 fusion and additional genetic mutations, expanding understanding of this rare pediatric cancer.
Area of Science:
- Pediatric neuro-oncology
- Central nervous system (CNS) tumor classification
Background:
- Infant-type hemispheric glioma is a recently defined CNS tumor entity (2021 WHO classification).
- These tumors occur in the cerebral hemispheres of infants and harbor specific molecular alterations (NTRK, ALK, ROS, MET).
Observation:
- A four-month-old infant presented with a large, high-grade hemispheric glioma.
- Tumor tissue analysis revealed a TPM3-NTRK1 fusion and homozygous CDKN2A/B deletion.
Findings:
- Next-generation sequencing confirmed the TPM3-NTRK1 fusion and identified mutations in ROS1, TLX3, FAT1, ABL1, MSH2, and PALB2.
- The tumor expressed pan-TRK, consistent with NTRK1 gene rearrangement.
Implications:
- This case expands the known genotypic spectrum of infant-type hemispheric glioma.
- Identifying novel genetic alterations aids in understanding rare pediatric brain tumors and may inform future targeted therapies.
Keywords:
Infant-type hemispheric gliomaTPM3-NTRK1 fusionhigh-grade gliomahomozygous deletionmutation
