Infant-Type Hemispheric Glioma in a Chinese Girl: A Newly Defined Entity

Abstract

Background: Infant-type hemispheric glioma is a newly defined entity in the updated 2021 WHO classification of tumors of the central nervous system. This lesion occurs in the cerebral hemispheres of newborns and infants and harbors molecular alterations in the NTRK family, ALK, ROS, or MET. Case report: A four-month-old female infant presented with a large space occupying lesion of the left cerebral hemisphere, whose histological manifestation was high-grade hemispheric infantile glioma. Tumor expressed panTRK, indicative of rearranged NTRK1, which was validated by next generation sequencing (NGS) as TPM3-NTRK1 fusion. There was homozygous deletion of CDKN2A/B, and there were ROS1, TLX3, FAT1, ABL1, MSH2, and PALB2 mutations. Conclusion: The additional genetic alterations in this case may expand the genotypic spectrum of this distinct cohort.

Keywords:

• Infant-type hemispheric glioma
• high-grade glioma
• TPM3-NTRK1 fusion
• homozygous deletion
• mutation

Acknowledgments

We thank the patient and their parents for their participation in this study.

Declaration of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Funding

The author(s) reported there is no funding associated with the work featured in this article.