Article
Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas.
The Journal of pathology - 1 Aug 2020
Wallace Paal W, Conrad Catleen, Brückmann Sascha, Pang Ying, Caleiras Eduardo, Murakami Masanori, Korpershoek Esther, Zhuang Zhengping, Rapizzi Elena, Kroiss Matthias, Gudziol Volker, Timmers Henri Jlm, Mannelli Massimo, Pietzsch Jens, Beuschlein Felix, Pacak Karel, Robledo Mercedes, Klink Barbara, Peitzsch Mirko, Gill Anthony J, Tischler Arthur S, de Krijger Ronald R, Papathomas Thomas, Aust Daniela, Eisenhofer Graeme, Richter Susan
Abstract excerpt
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a hereditary background in over one-third of patients. Mutations in succinate dehydrogenase (SDH) genes increase the risk for PPGLs and several other tumours. Mutations in subunit B (SDHB) in particular are a risk factor for metastatic disease, further highlighting the importance of identifying SDHx mutations for patient...
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