Shah Ahmed, Decoste Ryan, Vanderbeck Kaitlin, Sharma Anurag, Roy Simon F, Naert Karen, Osmond Allison
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada.
Alberta Precision Laboratories, Calgary, AB, Canada.
J Cutan Med Surg. 2025 May-Jun;29(3):290-297. doi: 10.1177/12034754241303057. Epub 2024 Dec 11.
The emergence of pathologist-driven molecular reflex testing for tumoural biomarkers is a significant advancement in cancer diagnostics, facilitating targeted cancer therapy for our patients. Based on our experience, the Canadian landscape of pathologist-driven reflex biomarker testing for melanoma lacks standardization and is plagued by a lack of awareness by pathologists and clinicians. This paper comprehensively examines the approaches to reflex biomarker testing for melanoma patients across Canada, highlighting the regional variations in the criteria for initiating molecular testing, the biomarkers tested, and the molecular techniques employed. We also discuss the clinical relevance of biomarkers, emphasizing their alignment with the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines) as well as ancillary tests such as BRAF VE1 immunohistochemistry to detect BRAF V600E mutation and molecular techniques such as real-time polymerase chain reaction, matrix-assisted laser desorption ionization-time of flight mass spectrometry and next-generation sequencing. Our proposed standardized for reflex testing prioritize melanomas with Breslow thickness >4 mm or disseminated disease, who will most benefit from enhanced delivery of biomarkers and expedited access to targeted therapies while attempting to balance cost-effectiveness and utilization of public healthcare resources with patient outcomes.
由病理学家推动的肿瘤生物标志物分子反射检测的出现是癌症诊断领域的一项重大进展，有助于为我们的患者提供靶向癌症治疗。根据我们的经验，加拿大病理学家推动的黑色素瘤反射生物标志物检测缺乏标准化，且病理学家和临床医生缺乏认识。本文全面研究了加拿大各地针对黑色素瘤患者的反射生物标志物检测方法，突出了启动分子检测的标准、检测的生物标志物以及所采用的分子技术方面的地区差异。我们还讨论了生物标志物的临床相关性，强调它们与美国国立综合癌症网络（NCCN）肿瘤学临床实践指南（NCCN指南）的一致性，以及诸如用于检测BRAF V600E突变的BRAF VE1免疫组织化学等辅助检测和诸如实时聚合酶链反应、基质辅助激光解吸电离飞行时间质谱和下一代测序等分子技术。我们提议的反射检测标准化方案优先考虑Breslow厚度>4mm或播散性疾病的黑色素瘤患者，这些患者将从生物标志物的强化提供和更快获得靶向治疗中获益最大，同时试图在成本效益以及公共医疗资源利用与患者预后之间取得平衡。
