The ideal reporting of RAS testing in colorectal adenocarcinoma: a pathologists' perspective.

IF 4.4 Q1 PATHOLOGY
PATHOLOGICA Pub Date : 2023-06-14 DOI:10.32074/1591-951X-895
Umberto Malapelle, Valentina Angerilli, Francesco Pepe, Gabriella Fontanini, Sara Lonardi, Mario Scartozzi, Lorenzo Memeo, Gianfranco Pruneri, Antonio Marchetti, Giuseppe Perrone, Matteo Fassan
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引用次数: 1

Abstract

RAS gene mutational status represents an imperative predictive biomarker to be tested in the clinical management of metastatic colorectal adenocarcinoma. Even if it is one of the most studied biomarkers in the era of precision medicine, several pre-analytical and analytical factors may still impasse an adequate reporting of RAS status in clinical practice, with significant therapeutic consequences. Thus, pathologists should be aware on the main topics related to this molecular evaluation: (i) adopt diagnostic limit of detections adequate to avoid the interference of sub-clonal cancer cell populations; (ii) choose the most adequate diagnostic strategy according to the available sample and its qualification for molecular testing; (iii) provide all the information regarding the mutation detected, since many RAS mutation-specific targeted therapeutic approaches are in development and will enter into routine clinical practice. In this review, we give a comprehensive description of the current scenario about RAS gene mutational testing in the clinic focusing on the pathologist's role in patient selection for targeted therapies.

Abstract Image

结直肠腺癌RAS检测的理想报告:病理学家的观点。
在转移性结直肠癌的临床治疗中,RAS基因突变状态是一种重要的预测性生物标志物。即使它是精准医学时代研究最多的生物标志物之一,一些分析前和分析因素可能仍然会阻碍临床实践中RAS状态的充分报告,并产生重大的治疗后果。因此,病理学家应该意识到与这种分子评估相关的主要主题:(i)采用足够的诊断检测限制,以避免亚克隆癌细胞群的干扰;(ii)根据可获得的样本及其分子检测资格选择最适当的诊断策略;(iii)提供有关检测到的突变的所有信息,因为许多针对RAS突变的靶向治疗方法正在开发中,并将进入常规临床实践。在这篇综述中,我们对目前临床中RAS基因突变检测的情况进行了全面的描述,重点是病理学家在患者选择靶向治疗中的作用。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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