SDHx germline mutation in thymic neuroendocrine tumors

#3978

Introduction: Mutation in succinate dehydrogenase complex genes (SDHA, SDHB, SDHC, SDHD) could be found in 10% of hereditary paraganglioma-pheochromocytomas and gastrointestinal stromal tumors. Nearly 25% of thymic neuroendocrine tumors (TNETs) are asscociated with MEN1. TNETs asscociated with SDHx germline mutation have not been reported.

Aim(s): We describe TNETs patients undergoing germline testing and found to harbor germline mutation in TNETs.

Materials and methods: Using tumor and germline large panel and whole-genome sequencing in TNETs patients in Center for Neuroendocrine Tumors, Fudan University Shanghai Cancer Center from July 2021 to October 2023.

Conference:

Presenting Author: Liang Y

Authors: Liang Y, Chen J,

Keywords: SDHx，thymic neuroendocrine tumor,