Infant-Type Hemispheric Glioma in a Chinese Girl: A Newly Defined Entity. (2nd January 2023)

• Record Type: Journal Article
• Authors: Fang, Yuan; Wang, Yi-zhen; Wei, Xia; Li, Shao-mei; Chen, Lian
• Is Part Of: Fetal and pediatric pathology. Volume 42:Number 1(2023)
• Page Start: 114
• Page End: 122
• Publication Date: 2023-01-02
• Subjects: Infant-type hemispheric glioma -- high-grade glioma -- TPM3-NTRK1 fusion -- homozygous deletion -- mutation; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2022.2061659
• Languages: English
• ISSNs: 1551-3815

Abstract

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.