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Clinicopathologic characteristics and mutational status of succinate dehydrogenase genes in paraganglioma of the urinary bladder: A multi-institutional Korean study

Title
Clinicopathologic characteristics and mutational status of succinate dehydrogenase genes in paraganglioma of the urinary bladder: A multi-institutional Korean study
Authors
Park S.Kang S.Y.Kwon G.Y.Kwon J.E.Kim S.K.Kim J.Y.Kim C.H.Kim H.-J.Moon K.C.Pyo J.Y.Park W.Y.Park E.S.Sung J.-Y.Sung S.H.Oh Y.-H.Lee S.E.Lee W.Lee J.I.Cho N.H.Jung S.J.Cho M.-S.Cho Y.M.Cho H.Y.Cha E.J.Chae Y.-S.Choe G.Choi Y.J.Huh J.Ro J.Y.
Ewha Authors
성순희조민선박상희
SCOPUS Author ID
성순희scopus; 조민선scopus; 박상희scopus
Issue Date
2017
Journal Title
Archives of Pathology and Laboratory Medicine
ISSN
0003-9985JCR Link
Citation
Archives of Pathology and Laboratory Medicine vol. 141, no. 5, pp. 671 - 677
Publisher
College of American Pathologists
Indexed
SCIE; SCOPUS WOS scopus
Document Type
Article
Abstract
Context: Because of the limited number of available primary bladder paraganglioma (PBPG) cases, the rates of succinate dehydrogenase (SDH) mutations and the clini-copathologic 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.
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DOI
10.5858/arpa.2016-0403-OA
Appears in Collections:
의과대학 > 의학과 > Journal papers
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