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

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dc.contributor.authorPark, S-
dc.contributor.authorKang, SY-
dc.contributor.authorKwon, GY-
dc.contributor.authorKwon, JE-
dc.contributor.authorKim, SK-
dc.contributor.authorKim, JY-
dc.contributor.authorKim, CH-
dc.contributor.authorKim, HJ-
dc.contributor.authorMoon, KC-
dc.contributor.authorPyo, JY-
dc.contributor.authorPark, WY-
dc.contributor.authorPark, ES-
dc.contributor.authorSung, JY-
dc.contributor.authorSung, SH-
dc.contributor.authorOh, YH-
dc.contributor.authorLee, SE-
dc.contributor.authorLee, W-
dc.contributor.authorLee, JI-
dc.contributor.authorCho, NH-
dc.contributor.authorJung, SJ-
dc.contributor.authorCho, MS-
dc.contributor.authorCho, YM-
dc.contributor.authorCho, HY-
dc.contributor.authorCha, EJ-
dc.contributor.authorChae, YS-
dc.contributor.authorChoe, G-
dc.contributor.authorChoi, YJ-
dc.contributor.authorHuh, J-
dc.contributor.authorRo, JY-
dc.date.accessioned2018-07-27T00:52:33Z-
dc.date.available2018-07-27T00:52:33Z-
dc.date.issued2017-
dc.identifier.issn0003-9985-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/15640-
dc.description.abstractCONTEXT: 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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dc.language.isoen-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHImmunohistochemistry-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation-
dc.subject.MESHParaganglioma/enzymology-
dc.subject.MESHParaganglioma/genetics-
dc.subject.MESHParaganglioma/pathology-
dc.subject.MESHRetrospective Studies-
dc.subject.MESHSuccinate Dehydrogenase/genetics-
dc.subject.MESHSuccinate Dehydrogenase/metabolism-
dc.subject.MESHUrinary Bladder/enzymology-
dc.subject.MESHUrinary Bladder/pathology-
dc.subject.MESHUrinary Bladder Neoplasms/enzymology-
dc.subject.MESHUrinary Bladder Neoplasms/genetics-
dc.subject.MESHUrinary Bladder Neoplasms/pathology-
dc.subject.MESHYoung Adult-
dc.titleClinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study-
dc.typeArticle-
dc.identifier.pmid27819762-
dc.contributor.affiliatedAuthor권, 지은-
dc.type.localJournal Papers-
dc.identifier.doi10.5858/arpa.2016-0403-OA-
dc.citation.titleArchives of pathology & laboratory medicine-
dc.citation.volume141-
dc.citation.number5-
dc.citation.date2017-
dc.citation.startPage671-
dc.citation.endPage677-
dc.identifier.bibliographicCitationArchives of pathology & laboratory medicine, 141(5). : 671-677, 2017-
dc.embargo.liftdate9999-12-31-
dc.embargo.terms9999-12-31-
dc.identifier.eissn1543-2165-
dc.relation.journalidJ000039985-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pathology
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