scholarly journals A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred: A family-based study

2018 ◽  
Vol 43 (3) ◽  
pp. 841-845
Author(s):  
B. de Vos ◽  
J.A. Rijken ◽  
M.A. Adank ◽  
A.W.J. Hoksbergen ◽  
J.P. Bayley ◽  
...  
Keyword(s):  
Head And Neck ◽  
Succinate Dehydrogenase ◽  
Germline Variant ◽  
Family Based ◽  
Succinate Dehydrogenase Subunit B ◽  
Head And Neck Paraganglioma ◽  
Subunit B

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 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 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

scholarly journals Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

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

Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

2008 ◽  
Vol 46 (3) ◽  
pp. 215-216 ◽  
Author(s):  
R Armstrong ◽  
K L Greenhalgh ◽  
E Rattenberry ◽  
B Judd ◽  
R Shukla ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Deletion ◽  
Sdhb Gene ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B
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