دورية أكاديمية
Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.
| العنوان: | Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach. |
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| المؤلفون: | Doe-Tetteh SA; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Camp SY; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Reales D; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Crowdis J; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Noronha AM; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Wolff B; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Nursing, Memorial Sloan Kettering Cancer Center, New York, New York., Alano T; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Nursing, Memorial Sloan Kettering Cancer Center, New York, New York., Galle J; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Selcuklu SD; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Viale A; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Socci ND; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.; Bioinformatics Core, Memorial Sloan Kettering Cancer Center, New York, New York., Liu YL; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Tew WP; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Aghajanian C; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Joan and Sanford I. Weill Medical College of Cornell University, New York, New York., Ladanyi M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., He MX; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Harvard Graduate Program in Biophysics, Boston, Massachusetts., AlDubayan SH; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Mazor RD; Clinic of Histiocytic Neoplasms, Institute of Hematology, Assuta Medical Center, Tel Aviv, Israel., Shpilberg O; Clinic of Histiocytic Neoplasms, Institute of Hematology, Assuta Medical Center, Tel Aviv, Israel.; Adelson School of Medicine, Ariel University, Ariel, Israel., Hershkovitz-Rokah O; Department of Molecular Biology, Faculty of Natural Sciences, Ariel University, Ariel, Israel.; Translational Research Lab, Assuta Medical Center, Tel Aviv, Israel., Riancho JA; Department of Internal Medicine, Hospital U.M. Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Hernandez JL; Department of Internal Medicine, Hospital U.M. Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Gonzalez-Vela MC; Department of Pathology, Hospital U.M. Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Buthorn JJ; Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York., Wilson M; Bioinformatics Core, Memorial Sloan Kettering Cancer Center, New York, New York., Webber AE; Bioinformatics Core, Memorial Sloan Kettering Cancer Center, New York, New York., Yabe M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Petrova-Drus K; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Rosenblum M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Durham BH; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York., Abdel-Wahab O; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York., Berger MF; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Donoghue MTA; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York., Kung AL; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York., Glade Bender J; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York., Shukla NN; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York., Funt SA; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Joan and Sanford I. Weill Medical College of Cornell University, New York, New York., Dogan A; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Soslow RA; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Al-Ahmadie H; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York., Feldman DR; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Joan and Sanford I. Weill Medical College of Cornell University, New York, New York., Van Allen EM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Diamond EL; Joan and Sanford I. Weill Medical College of Cornell University, New York, New York.; Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York., Solit DB; Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Joan and Sanford I. Weill Medical College of Cornell University, New York, New York.; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York. |
| المصدر: | Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2023 Jul 05; Vol. 29 (13), pp. 2445-2455. |
| نوع المنشور: | Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Journal Article; Comment |
| اللغة: | English |
| بيانات الدورية: | Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Denville, NJ : The Association, c1995- |
| مواضيع طبية MeSH: | Ovarian Neoplasms*/drug therapy , Ovarian Neoplasms*/genetics , Neoplasms, Germ Cell and Embryonal*, Humans ; Female ; Mutation ; Genomics ; Exome |
| مستخلص: | Purpose: To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes. Experimental Design: Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation sequencing assay with the return of results to patients and their local physicians. Whole-exome recapture was performed for female patients with GCTs to define the genomic landscape of this rare cancer subtype. Results: A total of 333 patients were enrolled, and tumor tissue was received for 288 (86.4%), with 250 (86.8%) having tumor DNA of sufficient quality for MSK-IMPACT testing. Eighteen patients with histiocytosis have received genomically guided therapy to date, of whom 17 (94%) have had clinical benefit with a mean treatment duration of 21.7 months (range, 6-40+). Whole-exome sequencing of ovarian GCTs identified a subset with haploid genotypes, a phenotype rarely observed in other cancer types. Actionable genomic alterations were rare in ovarian GCT (28%); however, 2 patients with ovarian GCTs with squamous transformation had high tumor mutational burden, one of whom had a complete response to pembrolizumab. Conclusions: Direct-to-patient outreach can facilitate the assembly of cohorts of rare cancers of sufficient size to define their genomic landscape. By profiling tumors in a clinical laboratory, results could be reported to patients and their local physicians to guide treatment. See related commentary by Desai and Subbiah, p. 2339. (©2023 American Association for Cancer Research.) |
| التعليقات: | Comment in: Clin Cancer Res. 2023 Jul 5;29(13):2339-2341. (PMID: 37125861) Comment on: Clin Cancer Res. 2023 Jul 5;29(13):2339-2341. (PMID: 37125861) |
| References: | Nat Med. 2019 Dec;25(12):1839-1842. (PMID: 31768065) JCO Precis Oncol. 2020 Oct 30;4:. (PMID: 33163850) Nature. 2016 Nov 30;540(7631):114-118. (PMID: 27905446) Biol Reprod. 2021 Jul 2;105(1):164-178. (PMID: 33739378) Acta Neuropathol. 2021 Nov;142(5):841-857. (PMID: 34417833) Trends Cancer. 2021 Jan;7(1):15-28. (PMID: 33008795) N Engl J Med. 2015 Aug 20;373(8):726-36. (PMID: 26287849) Nat Rev Genet. 2021 Aug;22(8):483-501. (PMID: 33762738) Cancer Discov. 2017 Jun;7(6):596-609. (PMID: 28336552) Cancer Genet Cytogenet. 2010 Oct 15;202(2):123-8. (PMID: 20875874) Cancer Cell. 2018 Jan 8;33(1):125-136.e3. (PMID: 29316426) Clin Cancer Res. 2019 Aug 1;25(15):4712-4722. (PMID: 31028088) Blood. 2010 Sep 16;116(11):1919-23. (PMID: 20519626) Nat Biotechnol. 2012 May;30(5):413-21. (PMID: 22544022) Cancer Discov. 2017 Aug;7(8):818-831. (PMID: 28572459) Gynecol Oncol. 2018 Oct;151(1):61-68. (PMID: 30170975) Nature. 2014 Jul 31;511(7511):543-50. (PMID: 25079552) Cancer Discov. 2016 Feb;6(2):154-65. (PMID: 26566875) Nat Med. 2017 Jun;23(6):703-713. (PMID: 28481359) Nature. 2014 Jan 23;505(7484):495-501. (PMID: 24390350) Nature. 2019 Mar;567(7749):521-524. (PMID: 30867592) Bioinformatics. 2020 Aug 1;36(15):4348-4349. (PMID: 32502231) JAMA. 2017 Sep 5;318(9):825-835. (PMID: 28873162) Cancer Discov. 2012 May;2(5):401-4. (PMID: 22588877) Nature. 2019 Jul;571(7766):576-579. (PMID: 31292550) Nat Med. 2020 Feb;26(2):181-187. (PMID: 32042194) JAMA Oncol. 2018 Mar 01;4(3):384-388. (PMID: 29188284) Cancer Discov. 2018 Dec;8(12):1548-1565. (PMID: 30322867) Nat Commun. 2022 Jun 15;13(1):3405. (PMID: 35705560) Nature. 2012 Jul 18;487(7407):330-7. (PMID: 22810696) Gynecol Oncol. 2020 Aug;158(2):467-475. (PMID: 32507650) J Clin Invest. 2020 Dec 1;130(12):6668-6676. (PMID: 32897884) Cell. 2015 Nov 5;163(4):1011-25. (PMID: 26544944) N Engl J Med. 2017 Oct 12;377(15):1409-1412. (PMID: 29020592) JCO Precis Oncol. 2017 Jul;2017:. (PMID: 28825054) Mod Pathol. 2021 Apr;34(4):770-785. (PMID: 33012788) Mod Pathol. 2020 Jun;33(6):1193-1206. (PMID: 31911616) J Mol Diagn. 2015 May;17(3):251-64. (PMID: 25801821) |
| معلومات مُعتمدة: | R01 CA127240 United States CA NCI NIH HHS; R37 CA259260 United States CA NCI NIH HHS; P30 CA008748 United States CA NCI NIH HHS; P50 CA221745 United States CA NCI NIH HHS; R01 CA229624 United States CA NCI NIH HHS; R37 CA222574 United States CA NCI NIH HHS |
| تواريخ الأحداث: | Date Created: 20230302 Date Completed: 20230706 Latest Revision: 20240106 |
| رمز التحديث: | 20240106 |
| مُعرف محوري في PubMed: | PMC10330105 |
| DOI: | 10.1158/1078-0432.CCR-22-3247 |
| PMID: | 36862133 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1557-3265 |
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| DOI: | 10.1158/1078-0432.CCR-22-3247 |