This is a collection of SDH-related research and articles. This list will be updated as new articles are published. If you need more information concerning SDH research please contact liferaft@liferaftgroup.org, search SDH on our website, and visit the The Pediatric & SDH-Deficient GIST Consortium page to read about the research the Consortium is conducting.

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SDH

Succinate dehydrogenase (SDH)-deficient neoplasia
Gill AJ. Succinate dehydrogenase (SDH)-deficient neoplasia. Histopathology 2018;72:106–16


Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome 
Settas N, Faucz FR, Stratakis CA. Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome. Mol Cell Endocrinol 2017.


Carney triad can be (rarely) associated with germline succinate dehydrogenase defects
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, et al. Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. Eur J Hum Genet 2016;24:569–73.


Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic
Boikos SA, Pappo AS, Killian JK, LaQuaglia MP, Weldon CB, George S, et al. Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncol 2016;2:922–8.


Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases

Mason EF, Hornick JL. Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases. Am J Surg Pathol 2016;40:1616–21.


Surgical Management of Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Pediatric and Wildtype GIST Clinic 
Weldon CB, Madenci AL, Boikos SA, Janeway KA, George S, von Mehren M, et al. Surgical


 Recurrent epimutation of SDHC in gastrointestinal stromal tumors
Killian JK, Miettinen M, Walker RL, Wang Y, Zhu YJ, Waterfall JJ, et al. Recurrent epimutation of SDHC in gastrointestinal stromal tumors. Sci Transl Med 2014;6:268ra177.


Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, et al. Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A. 2011;108:314–8. 

 

 

 

 

 

Paragangliomas/Pheocytochromas

NCCN Guidelines Version 3.2018 Pheochromocytoma/Paraganglioma 
Shah MH, Goldner W, Benson AB. NCCN Guidelines Version 3.2018 Pheochromocytoma/Paraganglioma. National Comprehensive Cancer Network; 2018. Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma, Front. Oncol., 22 February 2019


Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers. 
Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, Casey RT. Clin Endocrinol (Oxf).2018 Dec 27. doi: 10.1111/cen.13926. [Epub ahead of print] 


Alrezk R, Suarez A, Tena I, Pacak K. Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging. Front Endocrinol (Lausanne) 2018;9.https://doi.org/10.3389/fendo.2018.00515


Continued Tumor Reduction of Metastatic Pheochromocytoma/Paraganglioma Harboring Succinate Dehydrogenase Subunit B Mutations with Cyclical Chemotherapy
Jawed I, Velarde M, Därr R, Wolf KI, Adams K, Venkatesan AM, et al. Continued Tumor Reduction of Metastatic Pheochromocytoma/Paraganglioma Harboring Succinate Dehydrogenase Subunit B Mutations with Cyclical Chemotherapy. Cell Mol Neurobiol 2018;38:1099–106.


Genomic Landscape of Pheochromocytoma and Paraganglioma 
Jochmanova I, Pacak K. Genomic Landscape of Pheochromocytoma and Paraganglioma. Trends Cancer 2018;4:6–9.


Global DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations.  
Backman S, Maharjan R, Falk-Delgado A, Crona J, Cupisti K, Stålberg P, et al.Sci Rep 2017;7. 


Neuroendocrine tumours emerge from the shadows
Gilbert JA. Neuroendocrine tumours emerge from the shadows. The Lancet Diabetes & Endocrinology 2017;5:498.


Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome
Settas N, Faucz FR, Stratakis CA. Mol Cell Endocrinol 2017.


Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.  
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, et al. Eur J Hum Genet 2016;24:569–73. 


 In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.  
Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, et al.Clin Cancer Res 2016;22:1120–9.


European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma
Plouin PF, Amar L, Dekkers OM, Fassnacht M, Gimenez-Roqueplo AP, Lenders JWM, et al. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol 2016;174:G1–10.


Paraganglioma and phaeochromocytoma: from genetics to personalized medicine
Favier J, Amar L, Gimenez-Roqueplo A-P. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol 2015;11:101–11.


Metastatic pheochromocytoma and paraganglioma
Angelousi A, Kassi E, Zografos G, Kaltsas G. Metastatic pheochromocytoma and paraganglioma. Eur J Clin Invest 2015;45:986–97.


Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. 
Haller F, Moskalev EA, Faucz FR, Barthelmeß S, Wiemann S, Bieg M, et al.Endocrine-Related Cancer 2014;21:567–77. 


High-Throughput Screening for Growth Inhibitors Using a Yeast Model of Familial Paraganglioma
Bancos I, Bida JP, Tian D, et alPLoS One 2013.


Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations 
King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, et al. Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations. J Clin Oncol 2011;29:4137–42. 

 

 

 

Core Values