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

Park, S | Kang, SY | Kwon, GY | Kwon, JE  | Kim, SK | Kim, JY | Kim, CH | Kim, HJ | Moon, KC | Pyo, JY | Park, WY | Park, ES | Sung, JY | Sung, SH | Oh, YH | Lee, SE | Lee, W | Lee, JI | Cho, NH | Jung, SJ | Cho, MS | Cho, YM | Cho, HY | Cha, EJ | Chae, YS | Choe, G | Choi, YJ | Huh, J | Ro, JY
Archives of pathology & laboratory medicine, 141(5). : 671-677, 2017
Journal Title
Archives of pathology & laboratory medicine
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.

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Journal Papers > School of Medicine / Graduate School of Medicine > Pathology
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권, 지은
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