Eosinophilic solid and cystic renal cell carcinoma
嗜酸性实性和囊性肾细胞癌
Definition 定义
Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is characterized by a solid and cystic architecture, polygonal neoplastic cells with voluminous eosinophilic cytoplasm and basophilic cytoplasmic stippling, and frequent patchy immunoreactivity for CK20.
嗜酸性实性和囊性肾细胞癌 (ESC-RCC) 特征性由实性和囊性结构组成，多角形细胞具有丰富的嗜酸性胞质和点彩样嗜碱性胞质，CK20通常片状阳性。
ICD-O coding ICD-0编码
8311/3 Eosinophilic solid and cystic renal cell carcinoma
ICD-11 coding ICD-11编码
2C90.0 Renal cell carcinoma of kidney, except renal pelvis
Related terminology 相关术语
None 无
Subtype(s) 亚型
None 无
Localization 部位
Kidney 肾脏
Clinical features 临床特征
ESC-RCC was originally described exclusively in women. More recently, cases in children and men have been reported, as have multifocal cases and rare cases with lymph node or haematogenous metastasis.
ESC-RCC最初报道的仅为女性患者。最近，已有儿童和男性病例的报道，多灶病例和罕见的淋巴结或血行转移病例也有发生。
Epidemiology 流行病学
The reported age range is 14–75 years.
文献报道的年龄范围为14-75岁。（中文文献报道也有小于14岁儿童，总体来说儿童病例多为大龄儿童）
Etiology 流行病学
ESC-RCC closely resembles the granular eosinophilic-macrocystic subtype of RCC that has been associated with tuberous sclerosis and is now considered its somatic counterpart.
ESC-RCC与肾细胞癌的颗粒状嗜酸性大囊亚型非常相似，肾细胞癌与结节性硬化症有关，现在被认为是其体细胞对应物。
Other RCC subtypes reported in tuberous sclerosis include papillary carcinomas with clear cells and prominent smooth muscle, and chromophobe-like tumours.
结节性硬化症中报告的其他肾细胞癌亚型包括伴透明细胞、平滑肌明显的乳头状癌和嫌色样肿瘤。
Sporadic forms of all of these RCCs associated with somatic TSC gene mutations have now been described. Some cases previously reported as oncocytoid RCC after neuroblastoma have also proved to be ESC-RCC.
现在已经描述了与体细胞TSC基因突变相关的所有这些肾细胞癌的散发形式。一些先前报告为神经母细胞瘤后嗜酸细胞样肾细胞癌的病例也被证明是ESC-RCC。
Pathogenesis 发病机制
Recently, biallelic somatic mutations in TSC1 or TSC2 have been identified in a majority of ESC-RCCs. This results in upregulation of the mTOR pathway, which regulates cellular metabolism, proliferation, and survival.
最近，在大多数ESC RCC中发现了TSC1或TSC2的双等位基因体细胞突变。这导致mTOR通路上调，mTOR通路调节细胞代谢、增殖和存活。
Macroscopic appearance 大体表现
ESC-RCCs are typically well circumscribed, tan, and solid and cystic, with reported sizes ranging from < 10 to 135 mm. Most are organ-confined and small (pT1), although some are multifocal.
ESC RCCs通常边界清晰（但通常无包膜，见组织病理学），呈灰黄或灰褐色，呈实性和囊性，报道的大小范围为<10至135毫米。大多数是器官受限的小（pT1），尽管有些是多灶性的。
Histopathology 组织病理学
ESC-RCCs are typically unencapsulated. Although a solid and cystic architecture is typical, some are extensively papillary. The neoplastic cells are polygonal and have voluminous eosinophilic cytoplasm with basophilic cytoplasmic stippling. The stippling may include eosinophilic to purple cytoplasmic granules surrounded by a clear rim, reminiscent of leishmaniasis.
ESC-RCCs通常无包膜。虽然典型的是实性和囊性结构，但有些是广泛的乳头状结构。多角形细胞具有丰富的嗜酸性胞质和点彩样嗜碱性胞质。点彩可能包括嗜酸性至紫色的细胞质颗粒，周围有透明的边缘，让人联想到利什曼病（leishmaniasis）。
The cysts are typically lined by a single layer of hobnail cells that are often multinucleated. Prominent cytoplasmic vacuolization (consisting of either large or small vacuoles) may produce a clear cell appearance. The nuclei are round to oval, with minimal pleomorphism and variably prominent nucleoli. Scattered binucleated cells are common. Psammoma bodies are often present. Ultrastructural examination shows that the stippling corresponds to aggregated rough endoplasmic reticulum.
囊肿通常由单层鞋钉细胞排列，这些细胞通常是多核的。显著的细胞质空泡化（由大或小空泡组成）可能会产生细胞透亮外观。细胞核呈圆形至卵圆形，多形性极小，核仁不同程度地明显。散在的双核细胞很常见。沙砾体常见。超微结构显示，点彩对应于聚集的粗面内质网。
By immunohistochemistry, the carcinoma cells typically label for PAX8. CK20 characteristically yields patchy immunoreactivity ranging from isolated positive cells to more extensive immunoreactivity in 30–40% of the carcinoma cells. Similarly, cathepsin K is usually positive in a patchy fashion, although occasional tumours are negative and some are diffusely positive. CK7 and KIT (CD117) are usually negative. Occasional tumours are immunoreactive for melan-A.
免疫组化显示，肿瘤细胞通常表达PAX8。CK20的特征是在30-40%的癌细胞中产生斑片状阳性反应，从孤立的阳性细胞到更广泛的阳性表达。同样，组织蛋白酶K通常呈斑片状阳性，尽管偶尔有些肿瘤呈阴性或呈弥漫性阳性。CK7和KIT（CD117）通常为阴性。肿瘤偶尔表达melan-A。
When extensively papillary, ESC-RCC can resemble type 2 papillary RCC. The cytoplasmic stippling, psammoma bodies, frequent cathepsin K immunoreactivity, and occasional immunoreactivity for melan-A raise the differential diagnosis of MiT-family translocation RCC.
当广泛乳头状时，ESC-RCC可能类似于2型乳头状肾细胞癌。
细胞质点彩、砂粒体、组织蛋白酶K常阳性表达和偶尔melan-A阳性表达应与MiT家族易位RCC进行鉴别诊断。
The binucleation and solid areas of these neoplasms, as well as cytoplasmic vacuolization, can closely resemble chromophobe RCC.
这些肿瘤出现双核和实性区域，以及细胞质空泡化，可能与嫌色肾细胞癌非常相似。
More recently, a subset of RCCs characterized by eosinophilic and vacuolated cytoplasm, prominent nucleoli, and stromal oedema have been reported to be associated with TSC2 or MTOR somatic mutations, with associated upregulation of the mTOR pathway.
最近，有报道称，以嗜酸性和空泡化细胞质、明显核仁和基质水肿（oedema）为特征的RCCs亚群与TSC2或MTOR体细胞突变有关，并伴有MTOR通路的上调。
Although these neoplasms were negative for CK20 in the initial report of 7 cases and have a distinctive appearance, they may be pathogenetically related to ESC-RCC. Another cohort of similar cases, termed “high-grade oncocytic renal tumour” (despite their benign outcome so far) labelled for CK20 in 5 of 14 cases.
尽管在7例病例的初步报告中，这些肿瘤CK20呈阴性，并且具有独特的形态学，但它们可能与ESC-RCC在病理上有关。另一组类似的病例，称为“高级别嗜酸细胞肾肿瘤”（尽管迄今为止其结果为良性），在14例病例中有5例CK20阳性。
In addition to angiomyolipomas, the kidneys of children with tuberous sclerosis frequently have renal cysts characteristically lined by hypertrophic renal tubular cells with prominent eosinophilic cytoplasm, not unlike the cells of ESC-RCC.
除了血管平滑肌脂肪瘤，结节性硬化症儿童的肾脏经常出现肾囊肿，其特征是肾小管细胞肥大，胞浆嗜酸性突出，与ESC-RCC细胞相似。
Cytology 细胞学
Not relevant 无临床相关
Diagnostic molecular pathology 诊断分子病理学
Identification of biallelic somatic mutations in TSC1 or TSC2 with the morphological features described above is diagnostic.
具有上述形态特征的TSC1或TSC2双等位体细胞突变的鉴定是具有诊断（价值的）。
Essential and desirable diagnostic criteria 基本的和理想的诊断标准
Essential: an eosinophilic solid-cystic RCC; focal or diffuse CK20 positivity.
基本的：嗜酸性实性RCC，局灶或弥漫CK20阳性
Desirable: TSC gene mutation.
理想的：TSC基因突变。
Staging 分期
Staging follows the Union for International Cancer Control (UICC) TNM system.
分期遵循国际癌症控制联盟（UICC）TNM系统。
Prognosis and prediction 预后与预测
Albeit with limited follow-up data, the majority of ESC-RCCs appear to have been cured by resection. A few patients with lymph node or haematogenous metastases have been reported. One patient with haematogenous liver metastases at diagnosis had a complete response to mTOR pathway inhibitors, and the patient remains disease-free 10 years after diagnosis.
尽管随访数据有限，但大多数ESC RCCs似乎是通过切除治愈。据报道，有少数患者有淋巴结或血行转移。一名诊断为血行肝转移的患者对mTOR通路抑制剂有完全反应，诊断后10年患者仍未患病。
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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At low power, this well-delineated neoplasm demonstrates both cystic and solid architecture.
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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Legend:
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The neoplasm has a predominantly solid architecture and cysts containing pale-pink proteinaceous fluid.
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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The cells lining the cysts are frequently multinucleated and have particularly voluminous eosinophilic cytoplasm.
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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The neoplastic cells characteristically demonstrate basophilic cytoplasmic stippling.
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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The neoplasms occasionally demonstrate a papillary architecture.
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Diagnosis:
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Eosinophilic solid and cystic renal cell carcinoma
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The neoplasms typically demonstrate patchy but intense single-cell immunoreactivity for CK20.
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Diagnosis:
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Tuberous sclerosis
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An incipient cyst containing proteinaceous fluid and lined by cuboidal eosinophilic cells.
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Diagnosis:
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Tuberous sclerosis
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The cysts of tuberous sclerosis are characteristically lined by cells with voluminous eosinophilic cytoplasm. Note the basophilic stippling, similar to that of eosinophilic solid and cystic renal cell carcinoma.
以上内容来自WHO儿童肿瘤分册