Cập nhật Hướng dẫn Xét nghiệm Phân tử trong việc Lựa chọn Bệnh nhân Ung thư Phổi cho điều trị bằng các Inhibitor Tyrosine Kinase Đích: Hướng dẫn từ Hội Pathologists Hoa Kỳ, Hiệp hội Quốc tế Nghiên cứu Ung thư Phổi và Hiệp hội Pathology Phân tử

Archives of Pathology and Laboratory Medicine - Tập 142 Số 3 - Trang 321-346 - 2018
Neal I. Lindeman1, Philip T. Cagle, Dara L. Aisner, Maria E. Arcila, Mary Beth Beasley, Eric Bernicker, Carol Colasacco, Sanja Đačić, Fred R. Hirsch, Keith M. Kerr, David J. Kwiatkowski, Marc Ladanyi, Jan A. Nowak, Lynette M. Sholl, Robyn L. Temple-Smolkin, Benjamin Solomon, Lesley Souter, Erik Thunnissen, Ming‐Sound Tsao, Christina B. Ventura, Murry W. Wynes, Yasushi Yatabe
1From the Departments of Pathology (Drs Lindeman and Sholl) and Medicine (Dr Kwiatkowski), Brigham and Women's Hospital, Boston, Massachusetts; the Cancer Center (Dr Bernicker) and the Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Texas (Dr Cagle); the Department of Pathology, University of Colorado School of Medicine, Denver (Dr Aisner); the Diagnostic and Mol; Scientific Affairs, International Association for the Study of Lung Cancer, Aurora, Colorado (Dr Wynes); and the Department of Pathology and Molecular Diagnostics, Aichi Cancer Center, Nagoya, Japan (Dr Yatabe). Dr Souter is in private practice in Wellanport, Ontario, Canada.; the Cancer Center (Dr Bernicker) and the Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Texas (Dr Cagle); the Clinical and Scientific Affairs Division, Association for Molecular Pathology, Bethesda, Maryland (Dr Temple-Smolkin); the Department of Laboratory Medicine and Pathobiology, Princess Margaret Cancer Center, Toronto, Ontario, Canada (Dr Tsao); the Department of Molecular Pathology, Roswell Park Cancer Institute, Buffalo, New York (Dr Nowak); the Department of Pathology & Medicine, Pulmonary, Critical Care and Sleep Medicine, New York, New York (Dr Beasley); the Department of Pathology, University of Aberdeen, Aberdeen, Scotland (Dr Kerr); the Department of Pathology, University of Colorado School of Medicine, Denver (Dr Aisner); the Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania (Dr Dacic); the Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands (Dr Thunnissen); the Diagnostic and Molecular Pathology Laboratory (Dr Arcila) and the Molecular Diagnostics Service (Dr Ladanyi), Memorial Sloan Kettering Cancer Center, New York, New York; the Molecular Therapeutics and Biomarkers Laboratory, Peter Maccallum Cancer Center, Melbourne, Australia (Dr Solomon); the Pathology and Laboratory Quality Center, College of American Pathologists, Northfield, Illinois (Mss Colasacco and Ventura)

Tóm tắt

Ngữ cảnh.—

Vào năm 2013, một hướng dẫn dựa trên bằng chứng đã được xuất bản bởi Hội Pathologists Hoa Kỳ, Hiệp hội Quốc tế Nghiên cứu Ung thư Phổi, và Hiệp hội Pathology Phân tử nhằm thiết lập các tiêu chuẩn cho việc phân tích phân tử của ung thư phổi để hướng dẫn quyết định điều trị bằng các inhibitor đích. Những bằng chứng mới đã thúc đẩy việc đánh giá các công nghệ phòng thí nghiệm bổ sung, các gen có thể nhắm đến, quần thể bệnh nhân và loại khối u để kiểm tra.

Mục tiêu.—

Để hệ thống hóa xem xét và cập nhật hướng dẫn 2013 nhằm xác nhận tính hợp lệ của nó; đánh giá bằng chứng của những phát hiện di truyền mới, công nghệ và liệu pháp; và phát hành một cập nhật dựa trên bằng chứng.

Thiết kế.—

Hội Pathologists Hoa Kỳ, Hiệp hội Quốc tế Nghiên cứu Ung thư Phổi, và Hiệp hội Pathology Phân tử đã triệu tập một ban chuyên gia để phát triển một hướng dẫn dựa trên bằng chứng nhằm giúp định nghĩa các câu hỏi chính và các thuật ngữ tìm kiếm tài liệu, xem xét các tóm tắt và bài báo đầy đủ, và soạn thảo các khuyến nghị.

Kết quả.—

Mười tám khuyến nghị mới đã được soạn thảo. Ban cũng đã cập nhật 3 khuyến nghị từ hướng dẫn 2013.

Kết luận.—

Hướng dẫn 2013 đã được xác nhận phần lớn với các khuyến nghị cập nhật cho phép kiểm tra mẫu tế bào, yêu cầu độ nhạy xét nghiệm được cải thiện, và không khuyến nghị sử dụng miễn dịch hóa mô cho việc kiểm tra EGFR. Các khuyến nghị mới chính bao gồm việc kiểm tra ROS1 cho tất cả bệnh nhân adenocarcinoma; bao gồm các gen bổ sung (ERBB2, MET, BRAF, KRAS, và RET) cho các phòng thí nghiệm thực hiện các bảng giải trình tự thế hệ tiếp theo; miễn dịch hóa mô như một lựa chọn thay thế cho lai hóa huỳnh quang tại chỗ cho việc kiểm tra ALK và/hoặc ROS1; sử dụng các xét nghiệm có độ nhạy 5% cho các đột biến EGFR T790M ở bệnh nhân có kháng thuốc thứ cấp với các inhibitor EGFR; và việc sử dụng DNA tự do trong huyết thanh để "xác nhận" các đột biến có thể nhắm đến khi mô bị hạn chế hoặc khó thu thập.

Từ khóa


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