Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study

2012 ◽  
Vol 61 (5) ◽  
pp. 801-809 ◽  
Author(s):  
Leona A Doyle ◽  
Dylan Nelson ◽  
Michael C Heinrich ◽  
Christopher L Corless ◽  
Jason L Hornick
2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.


2006 ◽  
Vol 76 (8) ◽  
pp. 763-764 ◽  
Author(s):  
Mark J. Bolland ◽  
Diana E. Benn ◽  
Michael S. Croxson ◽  
John McCall ◽  
James H. F. Shaw ◽  
...  

2020 ◽  
Vol 59 (9) ◽  
pp. 1167-1171
Author(s):  
Ken Takeshima ◽  
Hiroyuki Ariyasu ◽  
Shinsuke Uraki ◽  
Chie Kitahara ◽  
Shuhei Morita ◽  
...  

2018 ◽  
Vol 4 (4) ◽  
pp. e324-e328
Author(s):  
Caroline Bachmeier ◽  
Leslie Kuma ◽  
Michael Collins ◽  
Kunwarjit Sangla

2004 ◽  
Vol 89 (1) ◽  
pp. 362-367 ◽  
Author(s):  
Margarete Maier-Woelfle ◽  
Michael Brändle ◽  
Paul Komminoth ◽  
Parvin Saremaslani ◽  
Sonja Schmid ◽  
...  

2019 ◽  
Vol 186 ◽  
pp. 107720
Author(s):  
Zhirong Wang ◽  
Chonglin Chen ◽  
Limei Sun ◽  
Aiyuan Zhang ◽  
Chengxi Liu ◽  
...  

Oncogene ◽  
2003 ◽  
Vol 22 (9) ◽  
pp. 1358-1364 ◽  
Author(s):  
Diana E Benn ◽  
Michael S Croxson ◽  
Kathy Tucker ◽  
Christopher P Bambach ◽  
Anne Louise Richardson ◽  
...  

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