Hartmann Arndt, Agaimy Abbas
Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
Pathologe. 2021 Nov;42(6):565-570. doi: 10.1007/s00292-021-00998-7. Epub 2021 Sep 22.
Despite its descriptive name, eosinophilic, solid, and cystic renal cell carcinoma (ESC-RCC) represents a distinctive epithelial renal tumor entity defined by characteristic clinicopathological and molecular features. ESC-RCC occurs predominantly in women and is characterized in the majority of cases by sporadic (somatic) TSC mutations. A small subset of cases, however, affects patients with TSC germline mutations (tuberous sclerosis syndrome). TSC mutations have therefore been shown to be pathogenetic in this type of tumor. Most tumors present as small (pT1) well circumscribed but not encapsulated lesions with variable macrocystic spaces on their cut surface. Immunohistochemically, their CD117-/CK7-/CK20+ profile is characteristic. Although the tumor cell nuclei of the ESC-RCC occasionally correspond to ISUP/WHO grade 2-3, these tumors are essentially indolent with aggressive cases being only rarely observed. Single case reports have documented effective treatment of aggressive cases with mTOR inhibitors. ESC-RCC needs to be distinguished from a variety of eosinophilic RCC types with secondary cystic changes including cystic SDH-deficient RCC, the recently proposed eosinophilic vacuolated tumor (EVT; also mTOR-related), oncocytoma, and low-grade oncocytic tumor (LOT). The generally indolent behavior and frequent TSC/mTOR alterations in ESC-RCC, EVT, and some LOTs raise the question of whether these lesions represent independent tumor entities or are merely morphological variants on the spectrum of eosinophilic low-grade TSC/mTOR-related neoplasms.
尽管其名称具有描述性,但嗜酸性实性和囊性肾细胞癌(ESC-RCC)是一种独特的上皮性肾肿瘤实体,由特征性的临床病理和分子特征所定义。ESC-RCC主要发生于女性,大多数病例的特征是散发性(体细胞)TSC突变。然而,一小部分病例影响患有TSC胚系突变的患者(结节性硬化症综合征)。因此,TSC突变已被证明在这类肿瘤中具有致病作用。大多数肿瘤表现为小(pT1)、边界清楚但无包膜的病变,切面有大小不一的大囊腔。免疫组化方面,其CD117-/CK7-/CK20+表型具有特征性。尽管ESC-RCC的肿瘤细胞核偶尔符合ISUP/WHO 2-3级,但这些肿瘤本质上生长缓慢,仅很少观察到侵袭性病例。单例报告记录了mTOR抑制剂对侵袭性病例的有效治疗。ESC-RCC需要与多种伴有继发性囊性改变的嗜酸性肾细胞癌类型相鉴别,包括囊性SDH缺陷型肾细胞癌、最近提出的嗜酸性空泡状肿瘤(EVT;也与mTOR相关)、嗜酸细胞瘤和低级别嗜酸细胞性肿瘤(LOT)。ESC-RCC、EVT和一些LOT通常生长缓慢且频繁出现TSC/mTOR改变,这就引发了一个问题,即这些病变是代表独立的肿瘤实体,还是仅仅是嗜酸性低级别TSC/mTOR相关肿瘤谱系中的形态学变异。