Single-nucleus RNA sequencing on human pheochromocytomas

Pheochromocytomas and paragangliomas (PPGLs) are rare tumors of the autonomic lineage of the neural crest that have high heritability rates and carry single driver events that are mutually exclusive. TMEM127 is a tumor suppressor gene that encodes a transmembrane protein which we identified as a susceptibility gene to PPGLs through loss-of-function germline mutations. RET is also a susceptibility gene to PPGLs. Here we tried to compare the two mutant tumors and see any difference and shared mechanism at the single cell resolution.