Gupta Sounak, Zhang Jun, Rivera Michael, Erickson Lori A
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Endocr Pathol. 2016 Sep;27(3):243-52. doi: 10.1007/s12022-016-9439-2.
Paragangliomas of the urinary bladder can arise sporadically or as a part of hereditary syndromes including those with underlying mutations in the succinate dehydrogenase (SDH) genes, which serve as tumor suppressors. SDH deficiency can be screened for by absence of immunohistochemical detection of SDHB. In this study of 11 cases, clinical follow-up was available for 9/11 cases. The cases were reviewed and graded based on the grading system for adrenal pheochromocytomas and paragangliomas (GAPP) criteria. Immunohistochemistry was performed for Ki67 and SDHB. Proliferative index was calculated by quantification of Ki67-positive cells at hot spots. The medical record was accessed for documentation of germline SDH mutations. Urinary bladder paragangliomas had a female predilection (8/11 cases), and 5/11 cases exhibited metastatic behavior. Patients with metastatic disease tended to be younger (mean age 43 vs 49 years), have larger lesions (5.8 vs 1.5 cm), and presented with catecholamine excess (4/4 vs 2/6 patients with non-metastatic lesions). Patients with metastatic disease had a higher mean Ki67 proliferation rate (4.9 vs 1.3 %) and GAPP score (mean of 5.8 vs 3.8) (p = 0.01). IHC for SDHB expression revealed loss of expression in 2/6 cases of non-metastatic paragangliomas compared to 4/5 patients with metastatic paragangliomas. Interestingly, of these four patients, two had a documented mutation of SDHB, one patient had a SDHC mutation, and another patient had a history of familial disease without mutation analysis being performed. Our study, suggests that SDH loss was suggestive of metastatic behavior in addition to younger age at diagnosis, larger tumor size, and higher Ki67 proliferation rate and catecholamine type.
膀胱副神经节瘤可散发出现,或作为遗传性综合征的一部分出现,这些综合征包括那些琥珀酸脱氢酶(SDH)基因存在潜在突变的情况,SDH基因起肿瘤抑制作用。可通过SDHB免疫组化检测缺失来筛查SDH缺乏症。在这项对11例病例的研究中,11例中有9例有临床随访资料。根据肾上腺嗜铬细胞瘤和副神经节瘤分级系统(GAPP)标准对病例进行回顾和分级。对Ki67和SDHB进行免疫组化检测。通过对热点区域Ki67阳性细胞进行定量计算增殖指数。查阅病历以记录种系SDH突变情况。膀胱副神经节瘤以女性多见(11例中有8例),11例中有5例表现出转移行为。有转移疾病的患者往往更年轻(平均年龄43岁对49岁),肿瘤更大(5.8 cm对1.5 cm),并且出现儿茶酚胺过量(4/4对非转移病变患者中的2/6)。有转移疾病的患者平均Ki67增殖率更高(4.9%对1.3%),GAPP评分更高(平均5.8对3.8)(p = 0.01)。SDHB表达的免疫组化显示,非转移副神经节瘤的6例中有2例表达缺失,而转移副神经节瘤的5例中有4例缺失。有趣的是,在这4例患者中,2例记录有SDHB突变,1例有SDHC突变,另1例有家族病史但未进行突变分析。我们的研究表明,SDH缺失除提示诊断时年龄较小、肿瘤较大、Ki67增殖率较高和儿茶酚胺类型外,还提示转移行为。