...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Modern Pathology >Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma
【24h】

Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma

机译：琥珀酸脱氢酶缺陷型肾细胞癌：11种肿瘤的详细表征，定义了肾细胞癌的独特亚型

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Patients with germline mutation of succinate dehydrogenase (SDH) subunit genes are prone to develop paraganglioma, gastrointestinal stromal tumor, and rarely renal cell carcinoma (RCC). However, SDH-deficient RCC is not yet widely recognized. We identified such tumors by distinctive morphology and confirmed absence of immunohistochemical staining for SDHB. Immunohistochemical features were evaluated using a panel of antibodies to renal tumor antigens. Targeted next-generation sequencing was performed on DNA extracted from paraffin-embedded tissue. Eleven tumors were identified from 10 patients, 22–72 years of age (median 40). Two patients had paragangliomas, 1 bilateral SDH-deficient RCC, and 1 contralateral oncocytoma. Grossly, tumors were tan or red–brown, 2–20?cm in diameter (median 4.25?cm). Fuhrman grade was 2 (n=10) or 3 (n=1). Stage was pT1a–pT2b. One patient developed widespread metastases 16 years after nephrectomy and died of disease 6 years later. All tumors were composed of uniform eosinophilic cells containing vacuoles or flocculent cytoplasmic inclusions. Architecture was primarily solid; entrapped renal tubules and intratumoral mast cells were common. By immunohistochemistry, tumor cells were negative for SDHB (11/11) and rarely SDHA (1/11). Labeling was uniformly positive for PAX8 and kidney-specific cadherin and absent for KIT, RCC, and carbonic anhydrase IX. Staining for broad-spectrum epithelial markers was often negative or focal (positive staining for AE1/AE3 in 4/10, CAM5.2 3/7, CK7 1/11, EMA 10/10). By sequencing, SDHB mutation and loss of the second allele were present in 5/6 tumors; the SDHA-deficient tumor showed no SDHB abnormality. SDH-deficient RCC is a unique neoplasm that is capable of progression, often harboring SDHB mutation. A monomorphic oncocytic renal tumor with solid architecture, cytoplasmic inclusions of flocculent material, and intratumoral mast cells should prompt evaluation of SDH status, as it may have implications for screening the patient and relatives. Negative immunohistochemistry for KIT and heterogeneous labeling for epithelial antigens are other supportive features.
机译：琥珀酸脱氢酶（SDH）亚基基因种系突变的患者易于发生副神经节瘤，胃肠道间质瘤，很少发生肾细胞癌（RCC）。但是，SDH不足的RCC尚未得到广泛认可。我们通过独特的形态学鉴定了此类肿瘤，并确认没有针对SDHB的免疫组化染色。使用一组针对肾肿瘤抗原的抗体评估免疫组织化学特征。对从石蜡包埋的组织中提取的DNA进行靶向的下一代测序。从10位22-72岁的患者中鉴定出11个肿瘤（中位值为40）。 2例患者有神经节旁瘤，1例双侧SDH缺乏RCC和1例对侧肿瘤。总体上，肿瘤为棕褐色或红褐色，直径2–20？cm（中值4.25？cm）。 Fuhrman等级为2（n = 10）或3（n = 1）。阶段为pT1a–pT2b。一名患者在肾切除术后16年出现广泛转移，并在6年后死于疾病。所有肿瘤均由均匀的嗜酸性细胞组成，该嗜酸性细胞含有液泡或絮状细胞质包裹体。建筑基本上是坚固的;肾小管包裹和肿瘤内肥大细胞很常见。通过免疫组织化学，肿瘤细胞对SDHB阴性（11/11），很少对SDHA（1/11）阴性。 PAX8和肾脏特异性钙粘着蛋白的标记一致地阳性，而KIT，RCC和碳酸酐酶IX则没有标记。广谱上皮标记物的染色常为阴性或局灶性（AE1 / AE3阳性染色为4/10，CAM5.2 3/7，CK7 1/11，EMA 10/10）。通过测序，在5/6肿瘤中存在SDHB突变和第二等位基因的丢失。 SDHA缺陷肿瘤未显示SDHB异常。 SDH缺乏的RCC是一种独特的肿瘤，能够进展，通常带有SDHB突变。具有固态结构，絮状物质的胞质内含物和肿瘤内肥大细胞的单形性肾小球肾肿瘤应迅速评估SDH的状态，因为这可能对筛查患者和亲属有影响。 KIT的阴性免疫组化和上皮抗原的异质标记是其他支持特征。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号