, among other genes ( Neumann et al. 2002 , Adler et al. 2008 ). SDHx mutations are found in approximately 27% of patients with advanced PHEO/PGL ( Young et al. 2002 ). Pathogenic mutations in succinate dehydrogenase subunit B ( SDHB) have been
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Kimberly Perez, Heather Jacene, Jason L Hornick, Chao Ma, Nuno Vaz, Lauren K Brais, Holly Alexander, William Baddoo, Kristina Astone, Edward D Esplin, John Garcia, Daniel M Halperin, Matthew H Kulke, and Jennifer A Chan
Ying Ni, Spencer Seballos, Shireen Ganapathi, Danielle Gurin, Benjamin Fletcher, Joanne Ngeow, Rebecca Nagy, Richard T Kloos, Matthew D Ringel, Thomas LaFramboise, and Charis Eng
whether germline SDHB/C/D ( SDHx ) variants could also occur in PTEN (MIM 601728) mutation-negative CS/CS-like individuals. Indeed, we found 8–10% of such patients carry SDHx mutations ( Ni et al . 2008 , 2012 ). CS/CS-like individuals with
Ales Vicha, David Taieb, and Karel Pacak
SDHx ( SDHD , SDHB , SDHC , SDHA , and SDHAF2 ) mutations and also accounts for about 30% of sporadic tumors ( Dahia et al . 2005 , Lopez-Jimenez et al . 2010 , Burnichon et al . 2011 ). The second group (cluster 2) represents tumors carrying
Henri J L M Timmers, Anne-Paule Gimenez-Roqueplo, Massimo Mannelli, and Karel Pacak
syndromes with which sPGL is associated are multiple endocrine neoplasia type 2 ( RET mutations), von Hippel-Lindau disease ( VHL mutations), hereditary PGL/pheochromocytoma syndromes ( SDHx mutations), and rarely neurofibromatosis type 1 ( NF1 mutations
Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, and Charlotte Lussey-Lepoutre
), related to succinate dehydrogenase ( SDHx) pathogenic variants ( Xekouki et al. 2015 ) in about 40% of cases. Genes encoding SDH enzyme and its assembly factor, collectively referred to as SDHx genes ( SDHA, SDHB, SDHC, SDHD, and SDHAF2 ), are the
Priya Gopie, Lin Mei, Anthony C Faber, Steven R Grossman, Steven C Smith, and Sosipatros A Boikos
been found to harbor mutations in other genes, including platelet-derived growth factor (PDGF) receptor alpha ( PDGFRA ), succinate dehydrogenase complex subunits ( SDHx ), neurofibromin 1 ( NF1 ), B-raf proto-oncogene ( BRAF ) and most recently
M Montani, A M Schmitt, S Schmid, T Locher, P Saremaslani, P U Heitz, P Komminoth, and A Perren
in all informative exons of SDHB , SDHC and SDHD . However, 12 of 35 patients (34.3%) showed SDHx germline alterations, present in neoplastic as well as in non-neoplastic tissue. SDHB In intron 2 of SDHB , germline
Paraskevi Xekouki and Constantine A Stratakis
holotetramer to the membrane and serve as the ubiquinone site ( Oyedotun & Lemire 2004 , Kantorovich & Pacak 2010 ). Syndromes related to SDHx mutations The discovery that mutations in genes coding for the subunits SDHB , SDHC , and SDHD were responsible
Maya B Lodish, Karen T Adams, Thanh T Huynh, Tamara Prodanov, Alex Ling, Clara Chen, Suzanne Shusterman, Camilo Jimenez, Maria Merino, Marybeth Hughes, Kendall W Cradic, Dragana Milosevic, Ravinder J Singh, Constantine A Stratakis, and Karel Pacak
). From an initial observation of two patients with Zuckerkandl organ tumors who had SDHx mutations, we searched our clinical database for other patients with tumors involving this organ; we then tested the DNA of these patients retrospectively for
Arthur Varoquaux, Yann le Fur, Alessio Imperiale, Antony Reyre, Marion Montava, Nicolas Fakhry, Izzie-Jacques Namer, Guy Moulin, Karel Pacak, Maxime Guye, and David Taïeb
in one of the succinate dehydrogenase (SDH) subunit genes (collectively referred to as SDHx ) ( Baysal et al . 2002 , Neumann et al . 2009 , Piccini et al . 2012 , Martucci & Pacak 2014 ). The SDH complex (also named mitochondrial complex II
