Katerina Hadrava Vanova, Ying Pang, Linda Krobova, Michal Kraus, Zuzana Nahacka, Stepana Boukalova, Svetlana D Pack, Renata Zobalova, Jun Zhu, Thanh-Truc Huynh, Ivana Jochmanova, Ondrej Uher, Sona Hubackova, Sarka Dvorakova, Timothy J Garrett, Hans K Ghayee, Xiaolin Wu, Bjoern Schuster, Philip E Knapp, Zdenek Frysak, Igor Hartmann, Naris Nilubol, Jiri Cerny, David Taieb, Jakub Rohlena, Jiri Neuzil, Chunzhang Yang, Karel Pacak
BACKGROUND: Pheochromocytoma and paraganglioma (PPGL) are neuroendocrine tumors with frequent mutations in genes linked to the tricarboxylic acid cycle. However, no pathogenic variant has been found to date in succinyl-CoA ligase (SUCL), an enzyme that provides substrate for succinate dehydrogenase (SDH; mitochondrial complex II [CII]), a known tumor suppressor in PPGL. METHODS: A cohort of 352 patients with apparently sporadic PPGL underwent genetic testing using a panel of 54 genes developed at the National Institutes of Health, including the SUCLG2 subunit of SUCL...
January 11, 2022: Journal of the National Cancer Institute