Franceschini Tania, Giunchi Francesca, Mollica Veronica, Altimari Annalisa, Capizzi Elisa, Banfi Mattia, Schiavina Riccardo, Fiorentino Michelangelo, Massari Francesco
Department of Pathology, IRCCS Azienda Ospedaliero Universitaria di Bologna, Via Albertoni 15, 40138 Bologna, Italy.
Department of Medical Oncology, IRCCS Azienda Ospedaliero Universitaria di Bologna, Via Albertoni 15, 40138 Bologna, Italy.
Diagnostics (Basel). 2021 Jan 28;11(2):184. doi: 10.3390/diagnostics11020184.
The occurrence of kidney oncocytic lesions with an admixed papillary component is not unusual in routine pathology practice. These neoplasms with dual morphology are classically recognized as collision tumors with variable malignant potential. Using immunohistochemistry, we investigated fluorescent in situ hybridization and next generation sequencing of the genetic and phenotypic profiles in the two components of 11 kidney tumors with colliding oncocytic and papillary features. The oncocytic component was CD117 positive, CK7 negative, and AMACR negative; the papillary component was CK7 positive, AMACR positive, and CD117 negative in all cases. Fluorescence in situ hybridization (FISH) results were inconsistent. Next generation sequencing (NGS) analysis demonstrated that the mutations identified in the two tumor components were identical and displayed an allelic frequency of approximately 50%, strongly suspicious for genetic polymorphisms. The two oncocytic and papillary tumor counterparts shared the same genetic profile and did not harbor pathogenic mutations. Clinical confirmation of the biological benign features of these tumors is required. The term collision tumor is not suitable for these neoplasms, and we propose the term oncopapillary tumor for this histological entity.
在常规病理实践中，出现伴有混合性乳头成分的肾嗜酸细胞性病变并不罕见。这些具有双重形态的肿瘤传统上被认为是具有不同恶性潜能的碰撞瘤。我们利用免疫组织化学、荧光原位杂交及二代测序技术，对11例具有嗜酸细胞性和乳头特征碰撞的肾肿瘤的两个成分的基因和表型谱进行了研究。在所有病例中，嗜酸细胞成分CD117阳性、CK7阴性、AMACR阴性；乳头成分CK7阳性、AMACR阳性、CD117阴性。荧光原位杂交（FISH）结果不一致。二代测序（NGS）分析显示，在两个肿瘤成分中鉴定出的突变相同，等位基因频率约为50%，高度怀疑为基因多态性。两个嗜酸细胞性和乳头性肿瘤对应部分具有相同的基因谱，未发现致病突变。需要对这些肿瘤的生物学良性特征进行临床确认。“碰撞瘤”这一术语不适用于这些肿瘤，我们建议将这种组织学实体称为“嗜酸乳头瘤”。
