Trpkov Kiril, Hes Ondrej, Bonert Michael, Lopez Jose I, Bonsib Stephen M, Nesi Gabriella, Comperat Eva, Sibony Mathilde, Berney Daniel M, Martinek Petr, Bulimbasic Stela, Suster Saul, Sangoi Ankur, Yilmaz Asli, Higgins John P, Zhou Ming, Gill Anthony J, Przybycin Christopher G, Magi-Galluzzi Cristina, McKenney Jesse K
*Calgary Laboratory Services and University of Calgary, Calgary, AB, Canada †Department of Pathology, Charles University, Pilsen, Czech Republic ‡Cruces University Hospital, BioCruces Institute, University of the Basque Country (UPV/EHU), Barakaldo, Bizkaia, Spain §Nephropath, Little Rock, AR ‡‡Medical College Wisconsin, Milwaukee, WI §§El Camino Hospital, Mountain View ∥∥Stanford University Hospital, Stanford, CA ¶¶New York University Medical Center, New York, NY ***Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH ∥Carregi Hospital, Florence, Italy ¶Pitié-Salpêtrière Hospital #Hopital Cochin, Paris, France **Barts Cancer Institute, Queen Mary University of London, London, United Kingdom ††University Hospital Dubrava, Zagreb, Croatia ##Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia.
Am J Surg Pathol. 2016 Jan;40(1):60-71. doi: 10.1097/PAS.0000000000000508.
A unique renal neoplasm characterized by eosinophilic cytoplasm and solid and cystic growth was recently reported in patients with tuberous sclerosis complex (TSC). We searched multiple institutional archives and consult files in an attempt to identify a sporadic counterpart. We identified 16 morphologically identical cases, all in women, without clinical features of TSC. The median age was 57 years (range, 31 to 75 y). Macroscopically, tumors were tan and had a solid and macrocystic (12) or only solid appearance (4). Average tumor size was 50 mm (median, 38.5 mm; range, 15 to 135 mm). Microscopically, the tumors showed solid areas admixed with variably sized macrocysts and microcysts that were lined by cells with a pronounced hobnail arrangement. The cells had voluminous eosinophilic cytoplasm with prominent granular cytoplasmic stippling and round to oval nuclei with prominent nucleoli. Scattered histiocytes and lymphocytes were invariably present. Thirteen of 16 patients were stage pT1; 2 were pT2, and 1 was pT3a. The cells demonstrated a distinct immunoprofile: nuclear PAX8 expression, predominant CK20-positive/CK7-negative phenotype, patchy AMACR staining, but no CD117 reactivity. Thirteen of 14 patients with follow-up were alive and without disease progression after 2 to 138 months (mean: 53 mo; median: 37.5 mo); 1 patient died of other causes. Although similar to a subset of renal cell carcinomas (RCCs) seen in TSC, we propose that sporadic "eosinophilic, solid, and cystic RCC," which occurs predominantly in female individuals and is characterized by distinct morphologic features, predominant CK20-positive/CK7-negative immunophenotype, and indolent behavior, represents a novel subtype of RCC.
最近有报道称，结节性硬化症（TSC）患者中出现了一种独特的肾肿瘤，其特征为嗜酸性细胞质以及实性和囊性生长。我们检索了多个机构的档案并查阅相关文件，试图找到散发性的对应病例。我们识别出16例形态相同的病例，均为女性，无TSC的临床特征。中位年龄为57岁（范围31至75岁）。大体上，肿瘤呈棕褐色，有实性和大囊状（12例）或仅为实性外观（4例）。肿瘤平均大小为50毫米（中位值38.5毫米；范围15至135毫米）。显微镜下，肿瘤表现为实性区域，夹杂大小不一的大囊和微囊，囊内衬有呈明显鞋钉样排列的细胞。细胞具有大量嗜酸性细胞质，有明显的颗粒状细胞质斑点，细胞核圆形至椭圆形，核仁明显。总是存在散在的组织细胞和淋巴细胞。16例患者中13例为pT1期；2例为pT2期，1例为pT3a期。细胞表现出独特的免疫表型：核PAX8表达，主要为CK20阳性/CK7阴性表型，局灶性AMACR染色，但无CD117反应性。14例接受随访的患者中，13例在2至138个月（平均53个月；中位值37.5个月）后存活且无疾病进展；1例死于其他原因。尽管与TSC中所见的一部分肾细胞癌（RCC）相似，但我们提出散发性“嗜酸性、实性和囊性RCC”主要发生在女性个体中，具有独特的形态学特征、主要为CK20阳性/CK7阴性免疫表型以及惰性生物学行为，代表了一种新型的RCC亚型。
