Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

ABSTRACT:

Objective

Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs), gastrointestinal stromal tumors (GISTs) and renal cell carcinomas (RCCs). These tumors have not been characterized in a way that reflects severity of SDH dysfunction. Mass spectrometric analysis now allows measurement of metabolites extracted from formalin fixed paraffin embedded (FFPE) specimens. We assess whether SDH deficiency in various tumor types characterized by loss of SDHB protein expression correlates with SDH dysfunction as assessed by the ratio of succinate:fumarate in FFPE specimens.

Patients and methods

Sections of FFPE tumor specimens from 18 PPGL, 10 GIST and 11 RCC patients with known SDHx mutat

SUBMITTER: Kim E 

PROVIDER: S-EPMC5219629 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature