scholarly journals A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

2020 ◽  
Vol 93 (5) ◽  
pp. 528-538 ◽  
Author(s):  
James MacFarlane ◽  
Keat Cheah Seong ◽  
Chad Bisambar ◽  
Basetti Madhu ◽  
Kieren Allinson ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutations ◽  
Dehydrogenase Gene ◽  
Tumour Spectrum

scholarly journals Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl

2010 ◽  
Vol 17 (3) ◽  
pp. 581-588 ◽  
Author(s):  
Maya B Lodish ◽  
Karen T Adams ◽  
Thanh T Huynh ◽  
Tamara Prodanov ◽  
Alex Ling ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Mesenteric Artery ◽  
Chromaffin Cells ◽  
Clinical Characteristics ◽  
Inferior Mesenteric Artery ◽  
Clinical Presentation ◽  
Gene Mutations ◽  
Aortic Bifurcation ◽  
Dehydrogenase Gene ◽  
Genes Encoding

Organ of Zuckerkandl paragangliomas (PGLs) are rare neuroendocrine tumors that are derived from chromaffin cells located around the origin of the inferior mesenteric artery extending to the level of the aortic bifurcation. Mutations in the genes encoding succinate dehydrogenase subunits (SDH) B, C, and D (SDHx) have been associated with PGLs, but their contribution to PGLs of the organ of Zuckerkandl PGLs is not known. We aimed to describe the clinical presentation of patients with PGLs of the organ of Zuckerkandl and investigate the prevalence of SDHx mutations and other genetic defects among them. The clinical characteristics of 14 patients with PGL of the organ of Zuckerkandl were analyzed retrospectively; their DNA was tested for SDHx mutations and deletions. Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney–Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor. Our results show that SDHx mutations are prevalent in pediatric and adult PGLs of the organ of Zuckerkandl. Patients with PGLs of the organ of Zuckerkandl should be screened for SDHx mutations and the CSS; in addition, asymptomatic carriers of an SDHx mutation among the relatives of affected patients may benefit from tumor screening for early PGL detection.

scholarly journals Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series

2017 ◽  
Vol 177 (5) ◽  
pp. 439-444 ◽  
Author(s):  
Tobias Else ◽  
Antonio Marcondes Lerario ◽  
Jessica Everett ◽  
Lori Haymon ◽  
Deborah Wham ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Loss Of Heterozygosity ◽  
Adrenocortical Carcinoma ◽  
Cushing Syndrome ◽  
Case Series ◽  
Gene Mutations ◽  
Loss Of Function ◽  
Dehydrogenase Gene ◽  
Rare Manifestation ◽  
Adrenal Masses

Objective Germline loss-of-function mutations in succinate dehydrogenase (SDHx) genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor SDHx mutations. Patients and results We report four unrelated patients with ACC and SDHx mutations. All cases presented with Cushing syndrome and large adrenal masses that were confirmed to be ACC on pathology. All four ACC specimens were found to have truncating mutations in either SDHC or SDHA, while cases 1, 2 and 3 also had the mutations confirmed in the germline: Case 1: SDHC c.397C > T, pR133X; Case 2: SDHC c.43C > T, p.R15X; Case 3: SDHA c.91C > T, p.R31X; Case 4: SDHA c.1258C > T, p.Q420X. Notably, Case 1 had a father and daughter who both harbored the same SDHC germline mutation, and the father had a paraganglioma and renal cell carcinoma. A combination of next generation sequencing, and/or immunohistochemistry, and/or mass spectroscopy was used to determine whether there was loss of heterozygosity and/or loss of SDH protein expression or function within the ACC. Potential evidence of loss of heterozygosity was observed only in Case 2. Conclusions We observed truncating mutations in SDHA or SDHC in the ACC and/or germline of four unrelated patients. Given how statistically improbable the concurrence of ACC and pathogenic germline SDHx mutations is expected to be, these observations raise the question whether ACC may be a rare manifestation of SDHx mutation syndromes. Further studies are needed to investigate the possible role of SDH deficiency in ACC pathogenesis.

scholarly journals Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas

2015 ◽  
Vol 115 (12) ◽  
pp. 1753-1759 ◽  
Author(s):  
Victoria L. Martucci ◽  
Abbas Emaminia ◽  
Jaydira del Rivero ◽  
Ronald M. Lechan ◽  
Bindiya T. Magoon ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutations ◽  
Dehydrogenase Gene

scholarly journals Multiple mutations across the succinate dehydrogenase gene complex are associated with boscalid resistance in Didymella tanaceti in pyrethrum

PLoS ONE ◽  
2019 ◽  
Vol 14 (6) ◽  
pp. e0218569 ◽  
Author(s):  
Tamieka Lee Pearce ◽  
Calum Rae Wilson ◽  
David Hugh Gent ◽  
Jason Barry Scott
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Complex ◽  
Dehydrogenase Gene

scholarly journals Resistance to Fluopyram, Fluxapyroxad, and Penthiopyrad in Botrytis cinerea from Strawberry

Plant Disease ◽  
2014 ◽  
Vol 98 (4) ◽  
pp. 532-539 ◽  
Author(s):  
Achour Amiri ◽  
Stacy M. Heath ◽  
Natalia A. Peres
Keyword(s):  
Succinate Dehydrogenase ◽  
Botrytis Cinerea ◽  
High Resistance ◽  
Gray Mold ◽  
Cross Resistance ◽  
The Novel ◽  
Resistance Development ◽  
Dehydrogenase Gene ◽  
Resistance Patterns ◽  
Subunit B

Succinate dehydrogenase inhibitors (SDHIs) constitute a mainstay in management of gray mold caused by Botrytis cinerea in strawberry and several other crops. In this study, we investigated the risks of resistance development to three newer SDHIs (i.e., fluopyram, fluxapyroxad, and penthiopyrad) and their cross-resistance with the previously registered boscalid. We investigated the mutations in the SdhB subunit and evaluated their impact on microbial fitness in field populations of B. cinerea. Amino acid substitutions associated with resistance to SDHIs were detected at three codons of the SdhB subunit (BH272R/Y/L, BP225F, and BN230I) in the succinate dehydrogenase gene of field isolates from Florida. The BH272R, BH272Y, BH272L, BP225F, and BN230I mutations were detected at frequencies of 51.5, 28.0, 0.5, 2.5, and 4%, respectively. Strong cross-resistance patterns were evident between boscalid and fluxapyroxad and penthiopyrad but not with fluopyram, except in BH272L, BP225F, and BN230I mutants. All five mutations conferred moderate to very high resistance to boscalid whereas the BH272Y conferred resistance to fluxapyroxad and penthiopyrad. The BH272L, BN230I, and BP225F mutations conferred high resistance to all four SDHIs tested. Resistance monitoring following the first use of penthiopyrad in strawberry fields in Florida in 2013 suggests potential for quick selection for highly resistant populations and warrants careful use of the newer SDHIs. No evidence of major fitness costs due to the mutations in the SdhB subunit was found, which indicates the potential ability of the mutants to survive and compete with wild-type isolates. Our study suggests high risks for rapid widespread occurrence of B. cinerea populations resistant to the novel SDHIs unless appropriate rotation strategies are implemented immediately upon registration.

scholarly journals Succinate dehydrogenase gene as a marker for studying Blastocystis genetic diversity

Heliyon ◽  
2020 ◽  
Vol 6 (11) ◽  
pp. e05387
Author(s):  
Adriana Higuera ◽  
Marina Muñoz ◽  
Myriam Consuelo López ◽  
Patricia Reyes ◽  
Plutarco Urbano ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Succinate Dehydrogenase ◽  
Dehydrogenase Gene

An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma

2008 ◽  
Vol 123 (1) ◽  
pp. 141-144 ◽  
Author(s):  
R Garrel ◽  
P Raynaud ◽  
I Raingeard ◽  
C Muyshondt ◽  
Q Gardiner ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
World Literature ◽  
Neuroendocrine Tumour ◽  
Genetic Mutations ◽  
Dehydrogenase Gene ◽  
The World ◽  
Thyroid Papillary ◽  
History Of ◽  
Succinate Dehydrogenase Mutation

AbstractObjective:To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C.Method:A case report and a review of the world literature concerning succinate dehydrogenase mutations and laryngeal paraganglioma are presented.Results:We identified a laryngeal paraganglioma in a 38-year-old woman, related to a very rare, deleterious in exon 4 of the succinate dehydrogenase mutation C. This mutation was a non-sense mutation: c.183G >A leading to p.Trp61X. No other neuroendocrine tumour was identified in this case, but a thyroid papillary carcinoma was concomitantly discovered and cured.Conclusion:To our knowledge, this is the first report in the world literature of laryngeal paraganglioma related to a succinate dehydrogenase mutation C. The case presented underlines the fact that every patient with paraganglioma should be tested for succinate dehydrogenase genetic mutations, even if a family history of paraganglioma is absent, in order to enable appropriate clinical management and to improve our knowledge of familial paraganglioma.

Succinate dehydrogenase gene arrangement and expression in Anaplasma phagocytophilum

Gene ◽  
2008 ◽  
Vol 414 (1-2) ◽  
pp. 41-48 ◽  
Author(s):  
Robert F. Massung ◽  
Shannon L. Hiratzka ◽  
Kelly A. Brayton ◽  
Guy H. Palmer ◽  
Kemba N. Lee
Keyword(s):  
Succinate Dehydrogenase ◽  
Anaplasma Phagocytophilum ◽  
Gene Arrangement ◽  
Dehydrogenase Gene

Ca2+ is involved in phytochrome A-dependent regulation of the succinate dehydrogenase gene sdh1-2 in Arabidopsis

2013 ◽  
Vol 170 (15) ◽  
pp. 1349-1352 ◽  
Author(s):  
Alexander T. Eprintsev ◽  
Dmitry N. Fedorin ◽  
Abir U. Igamberdiev
Keyword(s):  
Succinate Dehydrogenase ◽  
Phytochrome A ◽  
Dehydrogenase Gene
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