中欧和东欧在表皮生长因子受体外显子 20 插入突变方面未满足的需求:报销、诊断程序和治疗的可用性。

Q2 Biochemistry, Genetics and Molecular Biology
Maximilian J Hochmair, Mojca Unk, Jelena Spasic, Timur Cerić, Assia Konsoulova, Mircea Dediu, Krisztina Bogos, Alinta Hegmane, Kersti Oselin, Marko Stojiljkovic, Tina Roblek, Marko Jakopovic
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引用次数: 0

摘要

肺癌仍然是欧洲癌症相关死亡的主要原因,其中非小细胞肺癌(NSCLC)约占 85%。非小细胞肺癌是一种异质性疾病,包含多种致癌基因改变。其中,表皮生长因子受体 20 外显子插入突变占 NSCLC 病例的 0.3-2.2%,是继表皮生长因子受体 19 外显子缺失和 21 外显子 L858R 点突变之后第三大最常见的表皮生长因子受体改变,也被称为 "典型 "表皮生长因子受体改变。最近在了解 NSCLC 分子发病机制方面取得的进展使靶向治疗取得了重大突破,彻底改变了特定基因改变患者的治疗方案。本文介绍了 2022 年 9 月 19 日至 10 月 30 日在在线平台(Within3© 提供)上举行的虚拟会议的成果。会议重点讨论了表皮生长因子受体外显子20插入突变的NSCLC患者在诊断和治疗方面面临的挑战。与会者包括来自十个中欧和东欧国家的医疗保健专业人员,他们就流行病学、治疗方案和各自医疗机构采用的诊断方法等各个方面分享了经验和观点。本文的主要目的是根据与会者的评估,概述与诊断和治疗这种异质性疾病相关的挑战。在讨论的新出现的主要挑战中,下一代测序(NGS)的报销问题(NSCLC 分子诊断的推荐方法)和获批靶向治疗的可用性对提高患者疗效至关重要。此外,提高社区对肺癌的认识和促进协调肺癌护理也被认为是值得更加关注的领域。值得注意的是,随着治疗方法的快速发展,尤其是对患有表皮生长因子受体(EGFR)、ALK、RET、MET、NTRK 和 ROS1 等基因组改变的 NSCLC 患者进行 NGS 治疗,有必要优先开发新药,即使是针对 20 号外显子插入突变的相对较小的亚组。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unmet needs in EGFR exon 20 insertion mutations in Central and Eastern Europe: reimbursement, diagnostic procedures, and treatment availability.

Lung cancer remains the leading cause of cancer-related deaths in Europe, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cases. NSCLC is a heterogeneous disease encompassing various oncogenic alterations. Among them, EGFR exon 20 insertion mutations, constituting 0.3-2.2% of NSCLC cases, rank as the third most common EGFR alteration after exon 19 deletions and the L858R point mutation in exon 21, also known as "typical" EGFR alterations. Recent advancements in understanding the molecular pathogenesis of NSCLC have led to significant breakthroughs in targeted therapies, revolutionizing treatment options for patients with specific genetic alterations.This article presents the outcomes of a Virtual Meeting conducted on the online platform (provided Within3©) from September 19 to October 30, 2022. The meeting focused on addressing the challenges in the diagnosis and treatment of NSCLC patients with EGFR exon 20 insertion mutations. The participants consisted of healthcare professionals from ten Central and Eastern European countries who shared their experiences and opinions on various aspects, including epidemiology, treatment options, and diagnostic approaches employed in their respective healthcare institutions. The discussions were facilitated through open-ended and multiple-choice questions.The primary objective of this article is to provide an overview of the identified challenges associated with the diagnosis and treatment of this heterogeneous disease, based on the assessments of the meeting participants. Among the major emerging challenges discussed, the reimbursement issues concerning next-generation sequencing (NGS), a recommended method in NSCLC molecular diagnosis, and the availability of approved targeted treatments to enhance patient outcomes were of paramount importance. Furthermore, fostering community awareness of lung cancer and promoting harmonized lung cancer care were identified as areas deserving greater attention. Notably, the rapidly evolving treatment landscape, particularly with NGS for NSCLC patients with genomic alterations like EGFR, ALK, RET, MET, NTRK, and ROS1, necessitates prioritizing the development of new drugs, even for the relatively smaller subgroup with exon 20 insertion mutations.

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来源期刊
BMC Proceedings
BMC Proceedings Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
3.50
自引率
0.00%
发文量
6
审稿时长
10 weeks
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