Indiana University Health, Central Pathology Laboratory, Indianapolis, IN, United States.
Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
Pathology. 2018 Jan;50(1):24-36. doi: 10.1016/j.pathol.2017.09.005. Epub 2017 Nov 11.
The list of accepted entities of renal cell neoplasia has burgeoned since the turn of the century through recognition of rare tumour types and the discovery of genetic mutations driving renal neoplasia syndromes. This growth has not finished and in this report we present examples of each of these types which were not included in the 2016 World Health Organization classification of renal neoplasia, but are candidates for inclusion in the next edition of the classification. Thyroid-like follicular renal cell carcinoma is a rare tumour type with a distinctive microscopic appearance resembling follicles of the thyroid gland. Thirty-nine cases have been described and the findings have been reasonably consistent. Oncocytoma-like tumours associated with oncocytosis arise as a result of somatic mutations in the mitochondrial genome. The differential diagnosis is mainly with the renal lesions of the Birt-Hogg-Dubé syndrome, which is the result of germline mutations in the folliculin gene. Patients with oncocytoma-like tumours associated with oncocytosis are at great risk of developing renal failure as the proliferating lesions replace the renal parenchyma. Oncocytoma-like tumours have never been found to metastasise.
自本世纪初以来，随着对罕见肿瘤类型的认识以及对导致肾肿瘤综合征的基因突变的发现，肾细胞肿瘤的可接受实体列表不断增加。这种增长尚未结束，在本报告中，我们介绍了 2016 年世界卫生组织肾肿瘤分类中未包括的每一种类型的例子，但它们是下一个分类版本的候选对象。甲状腺样滤泡性肾细胞癌是一种罕见的肿瘤类型，其微观外观具有独特的特征，类似于甲状腺的滤泡。已经描述了 39 例，其发现结果相当一致。与伴嗜酸细胞增多的肾嗜酸细胞瘤相关的肿瘤是由于线粒体基因组的体细胞突变而产生的。鉴别诊断主要与 Birt-Hogg-Dubé 综合征的肾病变有关，该综合征是由于滤泡素基因的种系突变引起的。伴嗜酸细胞增多的肾嗜酸细胞瘤相关肿瘤的患者发生肾衰竭的风险很大，因为增殖性病变取代了肾实质。肾嗜酸细胞瘤样肿瘤从未发生过转移。
