Raspollini Maria Rosaria, Montagnani Ilaria, Montironi Rodolfo, Castiglione Francesca, Martignoni Guido, Cheng Liang, Lopez-Beltran Antonio
Histopathology and Molecular Diagnostics, Universitary Hospital Careggi, Florence, Italy.
Department of Biomedical Sciences and Public Health, Section of Pathological Anatomy, Polytechnic University of the Marche Region, School of Medicine, United Hospitals, Ancona, Italy.
J Clin Pathol. 2018 May;71(5):467-471. doi: 10.1136/jclinpath-2017-204931. Epub 2018 Jan 9.
Clear cell renal cell carcinoma (ccRCC) is an heterogeneous tumour at architectural, cellular and molecular level, a reason why the 2014 International Society of Urological Pathology consensus recommended wide sampling of RCC masses to include at least 1 block/cm of tumour together with perpendicular sections of the tumour/perinephric fat interface and the tumour/renal sinus interface. Intratumoural molecular heterogeneity may be a limitation at the moment of defining precision medicine strategies based on gene mutation status. This study analyses the presence of any mutation of and genes in 20 tissue blocks from a case of ccRCC and its metastasis. We observed the presence of the mutation at pH1047R of gene in five samples of the tumour, while the remaining 15 samples did not show any mutation at or any other investigated gene. There is a great need to develop novel RCC sampling strategies to overcome tumour heterogeneity prior to define precision oncology strategies.
透明细胞肾细胞癌（ccRCC）在结构、细胞和分子水平上是一种异质性肿瘤，这就是2014年国际泌尿病理学会共识建议对肾细胞癌肿块进行广泛取材的原因，即每厘米肿瘤至少取1块组织，并同时对肿瘤/肾周脂肪界面和肿瘤/肾窦界面进行垂直切片。肿瘤内分子异质性在基于基因突变状态定义精准医学策略时可能是一个限制因素。本研究分析了1例ccRCC及其转移灶的20个组织块中 基因和 基因的任何突变情况。我们在肿瘤的5个样本中观察到 基因pH1047R位点的突变，而其余15个样本在 基因或任何其他研究基因上均未显示任何突变。在确定精准肿瘤学策略之前，迫切需要开发新的肾细胞癌取材策略以克服肿瘤异质性。
