Wang Y, Zhuang J, Li Y J, Ji X B, Li Y X, Zhang Y J, Yu W J, Zhong D C, Zhang W, Jiang Y X
Department of Pathology, the Affiliated Hospital of Qingdao University, Qingdao 266003, China.
Department of Pathology, the 971 Hospital of PLA Navy, Qingdao 266071, China.
Zhonghua Bing Li Xue Za Zhi. 2024 Sep 8;53(9):910-915. doi: 10.3760/cma.j.cn112151-20240201-00074.
To investigate the clinicopathological features and differential diagnosis of eosinophilic vacuolated tumor (EVT). Seven cases of EVT with characteristic morphology and unequivocal diagnosis from the Affiliated Hospital of Qingdao University (6 cases), Qingdao, China and the 971 Hospital of PLA Navy (1 case), Qingdao, China between January 2010 and December 2021 were subject to morphological and immunohistochemical analyses. Additionally, whole exome sequencing (WES) was performed in two cases. Twenty-two cases of renal oncocytoma (RO) and 17 cases of eosinophilic chromophobe renal cell carcinoma (eChRCC) diagnosed at the same time were used as controls. Four males and three females with a mean age of 42 years (range: 29-61 years) were included in the study. The tumors were nodular and well-circumscribed, with sizes ranging from 1.5 to 4.5 cm. On cross-section, they appeared gray-red or gray-white, solid, and soft. Tumor cells were arranged in nests, solid sheets, and acinar or small vesicular structures. These cells exhibited eosinophilic cytoplasm with large, prominent clear vacuoles and round nuclei with prominent nucleoli. Perinuclear halos were focally present in four cases, while small tumor cells with sparse cytoplasm and hyperchromatic nuclei were seen in one case. No necrosis or mitosis was noted. Edematous stroma was detected in three cases. All tumors were positive for CD117 and Cathepsin K, but negative for vimentin and CK7. CK20 was positive in scattered individual cells, and Ki-67 positivity ranged from 1% to 4%. Point mutations in MTOR were identified in both patients who were subject to the molecular analysis. Statistical differences in the expression of Cathepsin K, CD10, S-100A1, and Cyclin D1 between EVT and RO (<0.05) were significant, so were the differences in the expression of Cathepsin K, CD10, CK7 and claudin 7 between EVT and eChRCC (<0.001). Seven patients were followed up for 4 to 96 months (mean, 50 months), with no recurrences or metastases. EVT is a rare renal tumor that shares morphological and immunophenotypic features with RO and eChRCC, and it is closely linked to the TSC/MTOR pathway. The presence of large prominent transparent vacuoles in eosinophilic cytoplasm along with conspicuous nucleoli is its key morphological characteristics. The use of combined immunohistochemical stains greatly aids in its diagnosis. Typically, the tumor exhibits indolent biological behaviors with a favorable prognosis.
探讨嗜酸性空泡状肿瘤(EVT)的临床病理特征及鉴别诊断。对2010年1月至2021年12月期间来自中国青岛大学附属医院(6例)和中国人民解放军海军第九七一医院(1例)的7例具有特征性形态且诊断明确的EVT进行形态学和免疫组化分析。另外,对其中2例进行了全外显子测序(WES)。同时诊断的22例肾嗜酸细胞瘤(RO)和17例嗜酸性嫌色肾细胞癌(eChRCC)作为对照。研究纳入4例男性和3例女性,平均年龄42岁(范围:29 - 61岁)。肿瘤呈结节状,边界清楚,大小为1.5至4.5 cm。切面呈灰红色或灰白色,实性,质地柔软。肿瘤细胞呈巢状、实性片状及腺泡状或小囊状结构排列。这些细胞胞质嗜酸性,有大而明显的透明空泡,细胞核圆形,核仁明显。4例可见核周晕,1例可见胞质稀少、核深染的小肿瘤细胞。未见坏死及核分裂象。3例见水肿性间质。所有肿瘤CD117和组织蛋白酶K均阳性,波形蛋白和CK7均阴性。CK20在散在个别细胞中呈阳性,Ki-67阳性率为1%至4%。接受分子分析的2例患者均检测到MTOR的点突变。EVT与RO之间组织蛋白酶K、CD10、S-100A1和细胞周期蛋白D1表达的统计学差异(<0.05)具有显著性,EVT与eChRCC之间组织蛋白酶K、CD10、CK7和紧密连接蛋白7表达的差异(<0.001)也具有显著性。7例患者随访4至96个月(平均50个月),无复发或转移。EVT是一种罕见的肾肿瘤,与RO和eChRCC具有形态学和免疫表型特征,且与TSC/MTOR通路密切相关。嗜酸性胞质内存在大而明显的透明空泡以及明显的核仁是其关键形态学特征。联合免疫组化染色有助于其诊断。通常,该肿瘤生物学行为惰性,预后良好。