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Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study

Authors
 Sanghui Park  ;  So Young Kang  ;  Ghee Young Kwon  ;  Ji Eun Kwon  ;  Sang Kyum Kim  ;  Ji Yeon Kim  ;  Chul Hwan Kim  ;  Hyun-Jung Kim  ;  Kyung Chul Moon  ;  Ju Yeon Pyo  ;  Won Young Park  ;  Eun Su Park  ;  Ji-Youn Sung  ;  Sun Hee Sung  ;  Young-Ha Oh  ;  Seung Eun Lee  ;  Wonae Lee  ;  Jong Im Lee  ;  Nam Hoon Cho  ;  Soo Jin Jung  ;  Min-Sun Cho  ;  Yong Mee Cho  ;  Hyun Yee Cho  ;  Eun Jung Cha  ;  Yang-Seok Chae  ;  Gheeyoung Choe  ;  Yeong Jin Choi  ;  Jooryung Huh  ;  Jae Y. Ro 
Citation
 Archives of Pathology & Laboratory Medicine, Vol.141(5) : 671-677, 2017 
Journal Title
 Archives of Pathology & Laboratory Medicine 
ISSN
 0003-9985 
Issue Date
2017
MeSH
Adult ; Aged ; DNA Mutational Analysis ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Mutation ; Paraganglioma/enzymology* ; Paraganglioma/genetics ; Paraganglioma/pathology ; Retrospective Studies ; Succinate Dehydrogenase/genetics* ; Succinate Dehydrogenase/metabolism ; Urinary Bladder/enzymology ; Urinary Bladder/pathology ; Urinary Bladder Neoplasms/enzymology* ; Urinary Bladder Neoplasms/genetics ; Urinary Bladder Neoplasms/pathology ; Young Adult
Abstract
CONTEXT: Because of the limited number of available primary bladder paraganglioma (PBPG) cases, the rates of succinate dehydrogenase (SDH) mutations and the clinicopathologic characteristics of SDH-deficient tumors have not been fully studied. OBJECTIVE: To define the clinicopathologic and molecular characteristics of PBPGs. DESIGN: A total of 52 PBPGs were collected retrospectively. SDHA and SDHB immunohistochemical stains were performed. In cases of SDHB expression loss, mutation analyses of SDHB, SDHC, and SDHD were performed. RESULTS: The clinicopathologic features were analyzed for 52 cases (M:F = 27:25), with a mean age of 56 years (range, 22-79 years). Tumor sizes were 0.5 to 8 cm (mean, 2.4 cm). Tumor necrosis was present in 5 of 52 cases (10%), involvement of muscularis propria in 41 (79%), and lymphovascular tumor invasion in 6 (12%). During a mean follow-up period of 41 months (range, 1-161 months), 3 of 52 patients (6%) developed metastases, but no one died from the disease. Immunohistochemistry for SDHA and SDHB showed that all cases were SDHA intact. Among them, 43 cases had intact SDHB, whereas 9 cases were SDHB deficient. Compared with the SDHB-intact cases, the SDHB-deficient cases were characterized by large tumor sizes (4.5 versus 1.9 cm; P < .001), a higher number of mitoses per 10 high-powered fields (2.6 versus 0.1; P = .002), and frequent lymphovascular tumor invasion (33% versus 7%; P = .02) and metastases (22% versus 2%; P = .02). Mutational analyses for SDHB, SDHC, and SDHD were performed in 9 SDHB-deficient cases. Among them, 6 cases were successfully sequenced and revealed SDHB mutations only. CONCLUSIONS: Large tumor size, a higher number of mitoses, and the presence of lymphovascular tumor invasion and SDHB mutations suggest malignant paraganglioma.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/161634
DOI
10.5858/arpa.2016-0403-OA
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
Yonsei Authors
김상겸(Kim, Sang Kyum) ; 조남훈(Cho, Nam Hoon)
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