Lassaletta Alvaro, Zapotocky Michal, Mistry Matthew, Ramaswamy Vijay, Honnorat Marion, Krishnatry Rahul, Guerreiro Stucklin Ana, Zhukova Nataliya, Arnoldo Anthony, Ryall Scott, Ling Catriona, McKeown Tara, Loukides Jim, Cruz Ofelia, de Torres Carmen, Ho Cheng-Ying, Packer Roger J, Tatevossian Ruth, Qaddoumi Ibrahim, Harreld Julie H, Dalton James D, Mulcahy-Levy Jean, Foreman Nicholas, Karajannis Matthias A, Wang Shiyang, Snuderl Matija, Nageswara Rao Amulya, Giannini Caterina, Kieran Mark, Ligon Keith L, Garre Maria Luisa, Nozza Paolo, Mascelli Samantha, Raso Alessandro, Mueller Sabine, Nicolaides Theodore, Silva Karen, Perbet Romain, Vasiljevic Alexandre, Faure Conter Cécile, Frappaz Didier, Leary Sarah, Crane Courtney, Chan Aden, Ng Ho-Keung, Shi Zhi-Feng, Mao Ying, Finch Elizabeth, Eisenstat David, Wilson Bev, Carret Anne Sophie, Hauser Peter, Sumerauer David, Krskova Lenka, Larouche Valerie, Fleming Adam, Zelcer Shayna, Jabado Nada, Rutka James T, Dirks Peter, Taylor Michael D, Chen Shiyi, Bartels Ute, Huang Annie, Ellison David W, Bouffet Eric, Hawkins Cynthia, Tabori Uri
Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara McKeown, Jim Loukides, James T. Rutka, Peter Dirks, Michael D. Taylor, Shiyi Chen, Ute Bartels, Annie Huang, Eric Bouffet, Cynthia Hawkins, and Uri Tabori, The Hospital for Sick Children, Toronto; Adam Fleming, McMaster Children's Hospital, McMaster University, Hamilton; Shayna Zelcer, Children's Hospital of Western Ontario, London, Ontario; David Eisenstat and Bev Wilson, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta; Anne Sophie Carret, Hospital Sainte Justine; Nada Jabado, McGill University, Montreal; Valerie Larouche, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; Ofelia Cruz and Carmen de Torres, Hospital Sant Joan de Déu, Barcelona, Spain; Cheng-Ying Ho, University of Maryland School of Medicine, Baltimore, MD; Roger J. Packer, Children's National Health System, Washington, DC; Ruth Tatevossian, Ibrahim Qaddoumi, Julie H. Harreld, James D. Dalton, and David W. Ellison, St Jude Children's Research Hospital, Memphis, TN; Jean Mulcahy-Levy and Nicholas Foreman, Children's Hospital Colorado, Aurora, CO; Matthias A. Karajannis, Shiyang Wang, and Matija Snuderl, New York University Langone Medical Center, New York, NY; Amulya Nageswara Rao and Caterina Giannini, The Mayo Clinic, Rochester, MN; Mark Kieran and Keith L. Ligon, Dana-Farber Cancer Institute, Boston Children's Hospital, Boston, MA; Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, and Alessandro Raso, Istituto Giannina Gaslini, Genoa, Italy; Sabine Mueller and Theodore Nicolaides, University of California, San Francisco, San Francisco, CA; Karen Silva and Romain Perbet, Hospices Civils de Lyon; Alexandre Vasiljevic, Cécile Faure Conter, and Didier Frappaz, Institute of Pediatric Hematology and Oncology, Lyon, France; Sarah Leary and Courtney Crane, Seattle Children's Hospital, Seattle, WA; Aden Chan and Ho-Keung Ng, The Chinese University of Hong Kong, Hong Kong; Zhi-Feng Shi and Ying Mao, Huashan Hospital, Fudan University, Shanghai, People's Republic of China; Elizabeth Finch, University of North Carolina, School of Medicine, Chapel Hill, NC; Peter Hauser, Semmelweis University, Budapest, Hungary; and David Sumerauer and Lenka Krskova, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
J Clin Oncol. 2017 Sep 1;35(25):2934-2941. doi: 10.1200/JCO.2016.71.8726. Epub 2017 Jul 20.
Purpose BRAF V600E is a potentially highly targetable mutation detected in a subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group of tumors remains unknown. Patients and Methods A combined clinical and genetic institutional study of patients with PLGGs with long-term follow-up was performed (N = 510). Clinical and treatment data of patients with BRAF V600E mutated PLGG (n = 99) were compared with a large international independent cohort of patients with BRAF V600E mutated-PLGG (n = 180). Results BRAF V600E mutation was detected in 69 of 405 patients (17%) with PLGG across a broad spectrum of histologies and sites, including midline locations, which are not often routinely biopsied in clinical practice. Patients with BRAF V600E PLGG exhibited poor outcomes after chemotherapy and radiation therapies that resulted in a 10-year progression-free survival of 27% (95% CI, 12.1% to 41.9%) and 60.2% (95% CI, 53.3% to 67.1%) for BRAF V600E and wild-type PLGG, respectively ( P < .001). Additional multivariable clinical and molecular stratification revealed that the extent of resection and CDKN2A deletion contributed independently to poor outcome in BRAF V600E PLGG. A similar independent role for CDKN2A and resection on outcome were observed in the independent cohort. Quantitative imaging analysis revealed progressive disease and a lack of response to conventional chemotherapy in most patients with BRAF V600E PLGG. Conclusion BRAF V600E PLGG constitutes a distinct entity with poor prognosis when treated with current adjuvant therapy.
目的 BRAF V600E是在一部分儿童低级别胶质瘤(PLGG)中检测到的一种具有潜在高度可靶向性的突变。其在这一多样肿瘤群体中的生物学和临床效应仍不清楚。
患者与方法 对患有PLGG且进行长期随访的患者开展了一项联合临床和遗传学的机构研究(N = 510)。将BRAF V600E突变型PLGG患者(n = 99)的临床和治疗数据与一个大型国际独立队列中BRAF V600E突变型PLGG患者(n = 180)的数据进行比较。
结果 在405例PLGG患者中的69例(17%)检测到BRAF V600E突变,这些患者具有广泛的组织学类型和部位,包括中线部位,而在临床实践中这些部位通常不常进行常规活检。BRAF V600E PLGG患者在化疗和放疗后的预后较差,BRAF V600E和野生型PLGG的10年无进展生存率分别为27%(95% CI,12.1%至41.9%)和60.2%(95% CI,53.3%至67.1%)(P <.001)。进一步的多变量临床和分子分层显示,切除范围和CDKN2A缺失独立导致BRAF V600E PLGG预后不良。在独立队列中观察到CDKN2A和切除对预后具有类似的独立作用。定量成像分析显示,大多数BRAF V600E PLGG患者出现疾病进展且对传统化疗无反应。
结论 采用当前辅助治疗时,BRAF V600E PLGG构成一个预后不良的独特实体。