Assistance Publique-Hôpitaux de Paris (AP-HP) Paris-Centre, Hôpital Européen Georges Pompidou, Service de Pathologie, F-75015, Paris, France.
Université de Paris, F-75006, Paris, France.
Mod Pathol. 2021 Mar;34(3):647-659. doi: 10.1038/s41379-020-0645-6. Epub 2020 Aug 7.
Biphasic squamoid alveolar papillary renal cell carcinoma (BSA-PRCC) is a recently studied lesion considered a morphologic variant of papillary renal cell carcinoma (RCC), more closely related to type 1. Considering the role of proto-oncogene MET in both sporadic type 1 papillary RCC and hereditary papillary RCC, we aimed to explore the role of MET activation in the oncogenesis of BSA-PRCC. We identified 17 patients with either unique (n = 14) or multiple (n = 3) BSA-PRCC, all localized, and performed an integrative analysis of MET status in 18 formalin-fixed paraffin-embedded tumors combining next-generation sequencing analysis, fluorescent in situ hybridization and immunohistochemistry. Trisomy 7 was found in 86% of tumors (14/16) without MET amplification at 7q31 (15/15). A pathogenic MET genetic variant was identified in 60% (9/15) of cases, at the germline level in 57% (4/7) of tested patients or at the somatic level (5/11). MET expression was observed in all tumors with a higher value of combined score in large cells (mean 97%, range 80-100%) than in small cells (mean 74%, range 10-100%) and was lower in two cases without MET copy number gain. In conclusion, our study provides additional evidence to consider biphasic squamoid alveolar papillary RCC as a morphological variant of type 1 papillary renal RCC. Our data strongly suggest that MET represents a major oncogenic driver gene in BSA-PRCC, harboring a higher frequency of MET mutation that encourages to further explore the benefice of anti-MET targeted therapies for aggressive BSA-PRCC.
双相型鳞状肺泡状乳头状肾细胞癌 (BSA-PRCC) 是一种最近研究的病变,被认为是乳头状肾细胞癌 (RCC) 的形态学变异型,与 1 型更为密切相关。鉴于原癌基因 MET 在散发性 1 型乳头状 RCC 和遗传性乳头状 RCC 中的作用,我们旨在探讨 MET 激活在 BSA-PRCC 发生中的作用。我们鉴定了 17 例具有独特(n=14)或多个(n=3)BSA-PRCC 的患者,均为局限性病变,并对 18 例福尔马林固定石蜡包埋肿瘤进行了 MET 状态的综合分析,结合下一代测序分析、荧光原位杂交和免疫组织化学。16 例肿瘤中有 86%(14/16)存在 7 号染色体三体,7q31 无 MET 扩增(15/15)。在 9 例病例中(15/15)发现了致病性 MET 基因突变,其中 57%(4/7)的患者在种系水平,57%(5/11)在体细胞水平。所有肿瘤均观察到 MET 表达,大细胞的组合评分值较高(平均值 97%,范围 80-100%),而小细胞的组合评分值较低(平均值 74%,范围 10-100%),在 2 例无 MET 拷贝数增益的病例中表达较低。总之,我们的研究提供了更多证据表明双相型鳞状肺泡状乳头状 RCC 是 1 型乳头状肾 RCC 的形态学变异型。我们的数据强烈表明,MET 是 BSA-PRCC 的主要致癌驱动基因,MET 突变频率较高,这促使我们进一步探索针对侵袭性 BSA-PRCC 的抗-MET 靶向治疗的益处。