scholarly journals Succinate Dehydrogenase Subunit B (SDHB) Is Expressed in Neurofibromatosis 1-Associated Gastrointestinal Stromal Tumors (Gists): Implications for the SDHB Expression Based Classification of Gists

2011 ◽  
Vol 2 ◽  
pp. 90-93 ◽  
Author(s):  
Jeanny H. Wang ◽  
Jerzy Lasota ◽  
Markku Miettinen
Keyword(s):  
Succinate Dehydrogenase ◽  
Gastrointestinal Stromal Tumors ◽  
Neurofibromatosis 1 ◽  
Stromal Tumors ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

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.

Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma

2006 ◽  
Vol 76 (8) ◽  
pp. 763-764 ◽  
Author(s):  
Mark J. Bolland ◽  
Diana E. Benn ◽  
Michael S. Croxson ◽  
John McCall ◽  
James H. F. Shaw ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gastrointestinal Stromal Tumour ◽  
Stromal Tumour ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals Malignant Gastrointestinal Stromal Tumour with Metastasis

2015 ◽  
Vol 01 (01) ◽  
pp. 031-033
Author(s):  
Bhushita Lakhar ◽  
Nilesh Guru
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Gastrointestinal Stromal Tumour ◽  
Anatomic Site ◽  
Stromal Tumors ◽  
Mesenchymal Neoplasms ◽  
Imaging Characteristics ◽  
The World ◽  
Mitotic Frequency ◽  
Malignant Lesions

AbstractGastrointestinal stromal tumors (GISTs) are the most usual mesenchymal neoplasms of the gastrointestinal tract. Ever since the classification of GIST as an entity distinct from leiomyoma's, leiomyosarcomas, etc., there has been an increased concern in defining their imaging characteristics. It is estimated that approximately 5000-10,000 people are affected per year by this tumor all over the world. Most GISTs are benign (70-80%). However, these tumors have a spectrum ranging from benign to malignant lesions, depending on its anatomic site, tumor size, and mitotic frequency. We report a case of multiple malignant GIST with metastasis into Liver.

scholarly journals Head and Neck Paraganglioma Atypically Carrying a Succinate Dehydrogenase Subunit B Mutation (L157X)

2020 ◽  
Vol 59 (9) ◽  
pp. 1167-1171
Author(s):  
Ken Takeshima ◽  
Hiroyuki Ariyasu ◽  
Shinsuke Uraki ◽  
Chie Kitahara ◽  
Shuhei Morita ◽  
...  
Keyword(s):  
Head And Neck ◽  
Succinate Dehydrogenase ◽  
Succinate Dehydrogenase Subunit B ◽  
Head And Neck Paraganglioma ◽  
Subunit B

scholarly journals SUCCINATE DEHYDROGENASE SUBUNIT B MUTATION PRESENTING WITH SPERMATIC CORD AND NECK PARAGANGLIOMA

2018 ◽  
Vol 4 (4) ◽  
pp. e324-e328
Author(s):  
Caroline Bachmeier ◽  
Leslie Kuma ◽  
Michael Collins ◽  
Kunwarjit Sangla
Keyword(s):  
Succinate Dehydrogenase ◽  
Spermatic Cord ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals A Novel Succinate Dehydrogenase Subunit B Gene Mutation, H132P, Causes Familial Malignant Sympathetic Extraadrenal Paragangliomas

2004 ◽  
Vol 89 (1) ◽  
pp. 362-367 ◽  
Author(s):  
Margarete Maier-Woelfle ◽  
Michael Brändle ◽  
Paul Komminoth ◽  
Parvin Saremaslani ◽  
Sonja Schmid ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

Expression of IGF-1 receptor in KIT/PDGF receptor-α wild-type gastrointestinal stromal tumors with succinate dehydrogenase complex dysfunction

2013 ◽  
Vol 9 (1) ◽  
pp. 121-126 ◽  
Author(s):  
Margherita Nannini ◽  
Annalisa Astolfi ◽  
Paola Paterini ◽  
Milena Urbini ◽  
Donatella Santini ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gastrointestinal Stromal Tumors ◽  
Pdgf Receptor ◽  
Wild Type ◽  
Stromal Tumors ◽  
Succinate Dehydrogenase Complex ◽  
Dehydrogenase Complex
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