The following is a summary of “Standardized molecular pathology workflow for ctDNA-based ESR1 testing in HR+/HER2- metastatic breast cancer,” published in the June 2024 issue of Oncology by Guerini-Rocco et al.
Mutations in the estrogen receptor alpha gene (ESR1) play a crucial role in the development of resistance to endocrine therapy (ET) among patients with hormone receptor-positive (HR+)/HER2- metastatic breast cancer (MBC). These mutations, which can be identified in circulating tumor DNA (ctDNA) in a substantial proportion of patients previously treated with ET, significantly impact treatment outcomes. Recent findings from prospective trials highlight the potential benefits of novel therapies like selective estrogen receptor degraders (SERDs) in managing patients with detectable ESR1 mutations, underscoring the critical need for timely and accurate mutation detection to guide treatment decisions effectively.
Given the urgency to integrate real-time clinical insights from ctDNA analysis, optimizing ESR1 testing strategies on liquid biopsy samples has become a paramount concern. This optimization includes standardizing synoptic pathology reporting ensuring findings are clinically actionable and consistently interpretable across different laboratories. The manuscript aims to elucidate the comprehensive clinical and biological rationale driving ESR1 testing in MBC. The researchers critically evaluate existing guidelines and recommendations for molecular testing of ctDNA, emphasizing the importance of harmonizing testing protocols within pathology laboratories.
Central to the discussion is the imperative to streamline and standardize the workflow for ESR1 testing, ensuring efficiency, accuracy, and reproducibility in reporting results. This involves integrating best practices in molecular pathology to enhance diagnostic reliability and facilitate prompt therapeutic decision-making. Moreover, the study group proposes a clear and comprehensive model for reporting ESR1 testing outcomes in ctDNA from HR+/HER2- MBC, aiming to establish a framework that promotes clarity and consistency in clinical practice.
By addressing these critical aspects, the review advances the field’s understanding of ESR1 mutations in MBC and underscores the importance of standardized testing protocols to optimize patient care. Ultimately, the goal is to facilitate the translation of molecular insights into actionable strategies that improve treatment outcomes and patient prognosis in this challenging clinical setting.
Source: sciencedirect.com/science/article/abs/pii/S1040842824001707