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

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 JungMin Sun Cho, Yong Mee Cho, Hyun Yee Cho, Eun Jung Cha, Yang Seok Chae, Gheeyoung Choe, Yeong Jin Choi, Jooryung Huh, Jae Y. Ro

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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.

Original languageEnglish
Pages (from-to)671-677
Number of pages7
JournalArchives of Pathology and Laboratory Medicine
Volume141
Issue number5
DOIs
StatePublished - May 2017

Cite this

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., ... Ro, J. Y. (2017). Clinicopathologic characteristics and mutational status of succinate dehydrogenase genes in paraganglioma of the urinary bladder: A multi-institutional Korean study. Archives of Pathology and Laboratory Medicine, 141(5), 671-677. https://doi.org/10.5858/arpa.2016-0403-OA