AUTHOR=Yue Xizan , Liu Bo , Han Tiantian , Luo Ningning , Lu Guanghua , Guo Didi , Bu Fanfeng , Wang Guangyu 

TITLE=A Novel Germline SDHA Gene Mutation and Co-Occurring Somatic KIT Activating Mutation in a Patient With Pediatric Central Nervous System Germ Cell Tumor: Case Report

JOURNAL=Frontiers in Oncology

VOLUME=Volume 12 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.835220

DOI=10.3389/fonc.2022.835220

ISSN=2234-943X

ABSTRACT=Central nervous system germ cell tumors (CNS GCTs) are a heterogeneous group of primary CNS tumors. GCTs are more common and mostly observed in pediatric and young adult patients. CNS GCTs are divided into germinomas, non-germinomatous germ cell tumors (NGGCTs) with different therapeutic strategies depending on diagnosis. Herein, we report a patient with pediatric central nervous system germinoma harboring a somatic KIT p.Y823D and a heterozygous germline SDHA p. T396Nfs*14 mutation detected by next generation sequencing. After surgery, the patient received chemotherapy (temozolomide + nedaplatin + etoposide). It’s the first time to report a Chinese pediatric patient with CNS GCT harboring concurrent germline SDHA and somatic KIT mutation, which enrich molecular profiles of CNS GCTs and provide more molecular evidence of clinical diagnosis, potential targeted therapy in CNS GCTs.