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A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling.

全面基因组分析揭示一种新的SDHA缺陷型肾细胞癌

Yakirevich E,Ali SM,Mega A,McMahon C,Brodsky AS,Ross JS,Allen J,Elvin JA,Safran H,Resnick MB

Abstract

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an emerging provisional entity included in the 2013 International Society of Urological Pathology Vancouver Classification. Most genomic alterations in patients with SDH-deficient RCCs involve the SDHB subunit, and the associated renal tumors have loss of immunohistochemical SDHB expression and distinctive morphologic features. Renal tumors less commonly possess genomic alterations involving the SDHC and SDHD subunits, but no SDHA alterations have as yet been described. Here we identified a novel SDHA homozygous deletion in an aggressive variant of RCC diagnosed initially as unclassified type in a 54-year-old patient. A search for novel actionable mutations by comprehensive genomic profiling based on clinical next-generation sequencing evaluating entire coding regions of 315 cancer-related genes, including all SDH subunits, was performed. Sequencing identified a novel 17 kbp homozygous deletion of 9 SDHA exons on chromosome 5p15. SDHA and SDHB immunohistochemistry further confirmed that the homozygous deletion led to the loss of SDHA and SDHB protein expression. Histologically, the tumor had a mixed pattern of high-grade papillary and collecting duct carcinoma and distinctive pale eosinophilic cytoplasmic inclusions similar to those described in SDHB-deficient RCC. This is the first report that identifies SDHA inactivation in RCC. Additional studies utilizing comprehensive genomic profiling, immunohistochemistry, and careful morphologic evaluation are needed both prospectively and retrospectively to identify the group of RCCs harboring SDHA genomic alterations.

摘要

琥珀酸脱氢酶(SDH)缺陷型肾细胞癌(RCC)是2013年温哥华国际泌尿协会病理学分类中新列入的一种肾癌亚型。大多数SDH-缺陷型RCCs的基因改变涉及的是SDHB亚单位,肿瘤免疫组化SDHB失表达,形态学特征独特。肾肿瘤较少有SDHC和SDHD亚单位的基因改变,但是SDHA的基因改变至今未见报道。本文中1名54岁病人患侵袭性RCC,起初被诊断为RCC未分类,我们分析发现有新的SDHA纯合子缺失。采用全面基因组分析寻找新的突变,依据临床二代测序对315个癌症相关基因的整个编码区域进行评估,包括所有的SDH亚单位。测序发现染色体5p15的SDHA9号外显子有新的17kbp纯合子缺失。SDHA和SDHB的免疫组化染色进一步证实纯合子缺失导致SDHA和SDHB蛋白表达缺失。组织学上,肿瘤为混合性高级别乳头状癌和集合管癌的生长模式,独特的淡嗜酸性胞质内包涵体,与SDHB-缺陷型RCC中的描述相似。这是RCC中发现SDHA失活的首例报道。需要运用全面基因组分析、免疫组化检测和仔细的形态学评估,进行前瞻性和回顾性分析研究,才能识别具有SDHA基因改变的RCCs病例

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